M. Zenker

发表

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.

H. Dörr, C. Thiel, B. Knebel, 2008, Molecular genetics and metabolism.

ABO blood type B and fucosyltransferase 2 non-secretor status as genetic risk factors for chronic pancreatitis

H. Völzke, C. Schurmann, G. Homuth, 2015, Gut.

Identifying facial phenotypes of genetic disorders using deep learning

Peter M. Krawitz, Yaron Gurovich, Guy Nadav, 2019, Nature Medicine.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

S. Mane, R. Lifton, V. Tasic, 2018, Clinical journal of the American Society of Nephrology : CJASN.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Mohamed G. Hassan, P. Kwok, S. Baranzini, 2011, Journal of Medical Genetics.

Genotype-phenotype correlations in Noonan syndrome.

W. Kress, M. Zenker, A. Reis, 2004, The Journal of pediatrics.

Clinical and molecular analysis of RASopathies in a group of Turkish patients

M. Zenker, P. Simsek-Kiper, Y. Alanay, 2013, Clinical genetics.

Clinical and Molecular Findings of Tunisian Patients with RASopathies

N. Kharrat, M. Zenker, R. Louati, 2014, Molecular Syndromology.

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features

D. Mitter, M. Zenker, H. Till, 2012, Molecular Syndromology.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

I. Screpanti, S. Checquolo, M. Digilio, 2010, American journal of human genetics.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

Mohammad Reza Ahmadian, Radovan Dvorsky, Alfred Wittinghofer, 2011, Human mutation.

Congenital and Inherited Anomalies of the Pancreas

M. Lerch, M. Zenker, 2018 .

Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X‐chromosomal rearrangements causing hemophilia A

N. Chuzhanova, M. Zenker, H. Schneider, 2007, Human mutation.

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo

E. Gundelfinger, M. Zenker, A. Fejtová, 2015, The EMBO journal.

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

C. Fauth, H. Cavé, M. Tartaglia, 2020, European Journal of Human Genetics.

ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes

I. Tezcan, S. Ozen, M. Zenker, 2019, American journal of medical genetics. Part A.

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

M. Tartaglia, M. Zenker, L. Salviati, 2018, Human molecular genetics.

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

G. Rosenberger, M. Zenker, K. Kutsche, 2018, PLoS genetics.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

M. Zenker, K. Kutsche, D. Amor, 2018, American journal of medical genetics. Part A.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Julie C. Sapp, J. Rosenfeld, E. Zackai, 2017, Genetics in Medicine.

Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

J. Allanson, H. Cavé, K. Gripp, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

M. Loh, A. Carè, H. Cavé, 2014, Human molecular genetics.

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog

B. Gelb, M. Zenker, R. Kandolf, 2015, American journal of medical genetics. Part A.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

D. Horn, S. Mundlos, J. Allanson, 2007, Journal of Medical Genetics.

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

D. Steinemann, B. Burkhardt, S. Pfister, 2017, American journal of medical genetics. Part A.

Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations

E. Mayatepek, M. Zenker, T. Meissner, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Cyst-like cerebral lesions in tuberous sclerosis.

W. Huk, M. Zenker, K. Mayer, 2002, American journal of medical genetics.

Flow cytometric cell‐based assay to preselect antibody constructs for radionuclide conjugation

J. Steinbach, M. Baumann, Jan-Martin Heldt, 2012, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice

D. Tuveson, P. A. Pérez-Mancera, O. Klein, 2020, JCI insight.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

S. Engelmann, R. Lifton, F. Hildebrandt, 2015, Journal of the American Society of Nephrology : JASN.

Genotype and phenotype spectrum of NRAS germline variants

H. Cavé, M. Ahmadian, M. Tartaglia, 2017, European Journal of Human Genetics.

Preparation, 99mTc-labeling and biodistribution studies of a PNA oligomer containing a new ligand derivative of 2,2'-dipicolylamine.

J. Steinbach, R. Bergmann, M. Zenker, 2010, Journal of inorganic biochemistry.

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Bethan E. Hoskins, C. Antignac, F. Hildebrandt, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Studies on pre-hump and main fractions of cellulose-2,5-acetate in acetone

M. Zenker, B. Saake, J. Puls, 2006 .

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

T. Wieland, T. Strom, D. Wieczorek, 2015, European Journal of Human Genetics.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

H. Cavé, M. Ahmadian, M. Tartaglia, 2019, American journal of human genetics.

Health and quality of life in adults with Noonan syndrome.

G. Binder, M. Zenker, R. Kaulitz, 2012, The Journal of pediatrics.

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

P. Gasparini, M. Zenker, K. Kutsche, 2010, European journal of medical genetics.

Neuro-kardio-fazio-kutane Syndrome

V. Mautner, M. Zenker, K. Kutsche, 2010 .

The face of Noonan syndrome: Does phenotype predict genotype

D. Horn, J. Allanson, D. Wieczorek, 2010, American journal of medical genetics. Part A.

Genetic and Pathogenetic Aspects of Noonan Syndrome and Related Disorders

M. Zenker, 2009, Hormone Research in Paediatrics.

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

J. Graham, B. Bejjani, M. Tartaglia, 2009, American journal of medical genetics. Part A.

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

M. Tartaglia, C. Leoni, G. Zampino, 2009, American journal of medical genetics. Part A.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

J. Allanson, M. Tartaglia, B. Kerr, 2009, European Journal of Human Genetics.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Germline Mutations in Components of the Ras Signaling Pathway in Noonan Syndrome and Related Disorders

C. Niemeyer, Suzanne Schubbert, K. Shannon, 2006, Cell cycle.

Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia

R. Stam, C. Niemeyer, M. Zenker, 2007, Haematologica.

An unexpected new role of mutant Ras: perturbation of human embryonic development

C. Niemeyer, M. Zenker, C. Kratz, 2007, Journal of Molecular Medicine.

CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation

F. Klawonn, M. Zenker, D. Schanze, 2017, Cell Death and Differentiation.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype

M. Ahmadian, Z. Stark, M. Zenker, 2012, Clinical genetics.

Developmental and metabolic disorders of the pancreas.

J. Mayerle, M. Lerch, M. Zenker, 2006, Endocrinology and metabolism clinics of North America.

Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility

M. Zenker, P. Mertens, 2010, International Urology and Nephrology.

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

M. Zenker, S. Aydoğdu, F. Ozkinay, 2015, Gene.

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

M. Zenker, K. Dittrich, I. Wieland, 2022, Frontiers in Endocrinology.

Impaired motor cortex plasticity in patients with Noonan syndrome

F. Heinen, I. Delvendahl, N. Jung, 2010, Clinical Neurophysiology.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

T. Strom, A. Ekici, M. Nothnagel, 2018, European Journal of Human Genetics.

Cellular and molecular properties of 90Y-labeled cetuximab in combination with radiotherapy on human tumor cells in vitro

J. Steinbach, M. Baumann, H. Rodemann, 2012, Strahlentherapie und Onkologie.

Cancer Risk and Spectrum in Individuals with RASopathies

M. Zenker, C. Kratz, M. Chao, 2020 .

N. Brown, A. Hamosh, K. Flanigan, 2016, Brain : a journal of neurology.

High‐level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non‐invasive molecular diagnosis in patients with Proteus syndrome

S. Tinschert, M. Zenker, I. Wieland, 2013, American journal of medical genetics. Part A.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

M. Greene, D. Mitter, H. Peters, 2015, British Journal of Cancer.

Inactivation of HNSCC Cells by 90Y-Labeled Cetuximab Strictly Depends on the Number of Induced DNA Double-Strand Breaks

J. Steinbach, M. Baumann, R. Grenman, 2013, The Journal of Nuclear Medicine.

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

D. Wieczorek, C. Spaich, E. Seemanová, 2009, European Journal of Human Genetics.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

U. Kontny, M. Zenker, C. Kratz, 2021, Familial Cancer.

Differences between neonates and adults in tissue-type-plasminogen activator (t-PA)-catalyzed plasminogen activation with various effectors and in carbohydrate sequences of fibrinogen chains.

A. Dell, H. Morris, P. Corran, 2001, Thrombosis research.

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum a

R. Hennekam, C. Antignac, A. Kariminejad, 2010 .

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

C. Antignac, M. Zenker, E. Machuca, 2009, Journal of Molecular Medicine.

Analysis of genes encoding laminin β2 and related proteins in patients with Galloway–Mowat syndrome

T. Shiihara, C. Kiraly-Borri, B. Hoppe, 2008, Pediatric Nephrology.

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.

M. Zenker, L. Al-Gazali, V. Matejas, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[Michel Pierson's syndrome].

M. Zenker, P. Cochat, 2011, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing

H. Klein, M. Liebau, M. Konrad, 2015, Pediatric Nephrology.

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

J. Hodgin, M. Wenk, F. Hildebrandt, 2020, Journal of inherited metabolic disease.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

G. Rosenberger, M. Zenker, P. Simsek-Kiper, 2013, Human molecular genetics.

Gut microbial similarity in twins is driven by shared environment and aging

P. Malfertheiner, M. Zenker, J. Skieceviciene, 2022, EBioMedicine.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

M. Ahmadian, E. Percin, B. Wollnik, 2016, Clinical genetics.

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

M. Spielmann, A. Zibat, J. Altmüller, 2022, Human mutation.

Oblique facial clefts in Johanson–Blizzard syndrome

M. Zenker, E. Richmond, L. Bobadilla-Morales, 2016, American journal of medical genetics. Part A.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Rapid development of hydrops fetalis in the donor twin following death of the recipient twin in twin-twin transfusion syndrome

M. Zenker, M. Ries, E. Beinder, 1999, Journal of perinatal medicine.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

H. Ropers, D. Wieczorek, F. Kortüm, 2010, Nature Genetics.

Deletion 15q24‐26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

M. Zenker, U. Trautmann, E. Beinder, 2001, Prenatal diagnosis.

The landscape of epilepsy-related GATOR1 variants

A. Biraben, F. Bartolomei, P. Striano, 2018, Genetics in Medicine.

Pilot study of association of catechol-O-methyl transferase rs4680 genotypes with acute kidney injury and tubular stress after open heart surgery.

R. Bellomo, R. Hetzer, M. Zenker, 2014, Biomarkers in medicine.

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

V. Tillmann, P. Chanson, M. Dattani, 2020, Orphanet Journal of Rare Diseases.

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

A. Ekici, D. Wieczorek, H. Dörr, 2017, Scientific Reports.

T cell-specific constitutive active SHP2 enhances T cell memory formation and reduces T cell activation

B. Schraven, M. Zenker, D. Bruder, 2022, Frontiers in Immunology.

Bleeding diathesis in Noonan syndrome: is acquired von Willebrand syndrome the clue?

M. Zenker, M. Hofbeck, R. Rauch, 2012, Thrombosis research.

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.

B. Gelb, G. Andelfinger, M. Zenker, 2019, Journal of the American College of Cardiology.

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

H. Cavé, H. Kayserili, M. Tartaglia, 2022, Human molecular genetics.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

F. Hildebrandt, S. Heeringa, G. Chernin, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Jing Liu, T. Sahoo, M. Zenker, 2020, Clinical dysmorphology.

Primary Congenital Glaucoma: Three Case Reports on Novel Mutations and Combinations of Mutations in the GLC3A (CYP1B1) Gene

C. Mardin, B. Rautenstrauss, M. Zenker, 2001, Journal of glaucoma.

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

R. Hochstenbach, M. Poot, E. Obersztyn, 2015, Molecular Syndromology.

Intestinal Perforations in a Premature Infant Caused by Bacillus cereus

M. Zenker, M. Hofbeck, R. Carbon, 2003, Infection.

Genetic basis of hypertrophic cardiomyopathy in children

M. Zenker, J. Thul, D. Schranz, 2018, Clinical Research in Cardiology.

Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model

J. Tuckermann, M. Zenker, I. Cirstea, 2022, Frontiers in Cell and Developmental Biology.

Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists.

C. Wolf, M. Tartaglia, A. Verloes, 2021, European journal of medical genetics.

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

W. Driever, C. Niemeyer, M. Zenker, 2021, Human molecular genetics.

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

M. Zenker, I. Wieland, C. Villanueva-Mendoza, 2019, Molecular genetics & genomic medicine.

Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

M. Patton, S. Huson, M. Vikkula, 2015, American journal of medical genetics. Part A.

Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)

F. Hildebrandt, C. Vlangos, B. Hinkes, 2007, Pediatrics.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

M. Schubach, C. Spaich, M. Zenker, 2014, European Journal of Human Genetics.

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

A. Luebke, R. Friedrich, T. Rosenbaum, 2021, In Vivo.

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

M. Maghnie, M. Zenker, R. Horikawa, 2022, Endocrine connections.

Whole Blood Clot Lysis in Newborns and Adults after Adding Different Concentrations of Recombinant Tissue Plasminogen Activator (Rt-PA)

M. Rauh, M. Zenker, E. Beinder, 1998, Seminars in thrombosis and hemostasis.

Fraser syndrome due to mutations in GRIP1—Clinical phenotype in two families and expansion of the mutation spectrum

H. Kayserili, M. Zenker, D. Schanze, 2014, American journal of medical genetics. Part A.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement

H. Heinze, P. Nestor, I. Krägeloh-Mann, 2015, Journal of the Neurological Sciences.

M. Zenker, J. Klinge, M. Ries, 1995, Journal of pediatric hematology/oncology.

Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?

J. Bacchetta, B. Ranchin, M. Zenker, 2018, Bone.

Differences between neonates and adults in the urokinase-plasminogen activator (u-PA) pathway of the fibrinolytic system.

M. Zenker, P. Gaffney, M. Ries, 2000, Thrombosis research.

Clinical overview on RASopathies

M. Zenker, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.

C. Wolf, M. Tartaglia, A. Verloes, 2021, European journal of medical genetics.

Noonan syndrome: improving recognition and diagnosis

M. Zenker, M. Cappa, J. Blair, 2022, Archives of Disease in Childhood.

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations

M. Wildgruber, M. Zenker, I. Wieland, 2021, American journal of medical genetics. Part A.

Variable phenotype of Pierson syndrome

K. Moon, H. Cheong, M. Zenker, 2008, Pediatric Nephrology.

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family

D. Mackey, M. Zenker, T. Bardakjian, 2013, Clinical genetics.

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

B. Korf, E. I. Pierpont, B. Gelb, 2022, American Journal of Medical Genetics. Part A.

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.

M. Zenker, A. Reis, Egbert Voss, 2007, European journal of medical genetics.

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene

R. Fahsold, M. Zenker, A. Rauch, 2006, American journal of medical genetics. Part A.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma'ayan, Wendy Schackwitz, 2009, Nature Genetics.

LEOPARD Syndrome: Clinical Aspects and Molecular Pathogenesis

M. Zenker, 2008 .

Estimated Prevalence of Harmful Alcohol Consumption in Pregnant and Nonpregnant Women in Saxony-Anhalt (NorthEast Germany) Using Biomarkers.

S. Kropf, M. Zenker, Elina Taneva, 2021, Alcoholism, clinical and experimental research.

Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome

M. Schmeisser, M. Zenker, Sara Greco, 2022, Human mutation.

Differences between neonates and adults in plasmin inhibitory and antifibrinolytic action of aprotinin.

M. Zenker, M. Ries, 2002, Thrombosis research.

Influence of soluble fibrin on reaction kinetics of plasmin type 1 and type 2 with α2-antiplasmin

Martin Zenker, M. Zenker, Martin Ries, 2003, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Functional Consequences of Differences in Carbohydrate Sequences of Fetal and Adult Plasminogen and Fibrinogen

A. Dell, M. Zenker, R. Easton, 2001 .

In Vitro Fibrinolysis After Adding Low Doses of Plasminogen Activators and Plasmin Generation with and without Oxidative Inactivation of Plasmin Inhibitors in Newborns and Adults

M. Zenker, J. Klinge, R. Rauch, 1996, Journal of pediatric hematology/oncology.

Differences between neonates and adults in carbohydrate sequences and reaction kinetics of plasmin and alpha(2)-antiplasmin.

Anne Dell, Howard R Morris, Martin Zenker, 2002, Thrombosis research.

Noonan syndrome and clinically related disorders.

B. Gelb, M. Tartaglia, M. Zenker, 2011, Best practice & research. Clinical endocrinology & metabolism.

Clinical and genetic distinction of Schimke immuno‐osseous dysplasia and cartilage‐hair hypoplasia

I. Kaitila, C. Boerkoel, A. Baradaran‐Heravi, 2008, American journal of medical genetics. Part A.

Genetic variation of the RASGRF1 regulatory region affects human hippocampus-dependent memory

Emrah Düzel, Joram Soch, Hartmut Schütze, 2014, Front. Hum. Neurosci..

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

R. Trembath, W. Wuyts, M. Zenker, 2009, American journal of medical genetics. Part A.

Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey

A. Luebke, R. Friedrich, M. Zenker, 2021, In Vivo.

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

R. Happle, M. Zenker, J. Fischer, 2022, European journal of medical genetics.

Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents.

W. Rascher, M. Zenker, H. Schneider, 2002, The Journal of pediatrics.

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

E. I. Pierpont, M. Tartaglia, A. Roberts, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

N. Bornfeld, D. Reinhardt, Tatsiana Ryl, 2021, Cancers.

Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

M. Zenker, I. Wieland, K. Griewank, 2022, JEADV Clinical Practice.

Identification of genetic loci associated with Helicobacter pylori serologic status.

M. Peters, A. Hofman, A. Uitterlinden, 2013, JAMA.

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

M. Zenker, T. Marquardt, S. Rust, 2012, European Journal of Human Genetics.

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

Martin Zenker, M. Zenker, 2011, Current opinion in pediatrics.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis‐Noonan syndrome

R. Fahsold, C. Thiel, H. Sticht, 2009, American journal of medical genetics. Part A.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

K. Schwarz, T. Giese, R. Lifton, 2017, The Journal of clinical investigation.

Profiling of the Bacterial Microbiota along the Murine Alimentary Tract

M. Zenker, R. Vílchez-Vargas, A. Link, 2022, International journal of molecular sciences.

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

H. Kayserili, A. Bloch-Zupan, M. Zenker, 2020, American journal of medical genetics. Part A.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

C. Vrinten, G. Ceccarini, A. Federico, 2020, Orphanet Journal of Rare Diseases.

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

T. Aigner, J. Dötsch, W. Rascher, 2004, Human molecular genetics.

Prognosis of children born to mothers with HELLP-syndrome

M. Zenker, B. Kevekordes, E. Beinder, 1998, Journal of perinatal medicine.

Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the NF1 Gene in the Osseous Lesion

U. Schüller, A. Luebke, R. Friedrich, 2022, AntiCancer Research.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

A new nonsense mutation in the NF1 gene with neurofibromatosis–Noonan syndrome phenotype

M. Zenker, K. Karaer, K. Carman, 2012, Child's Nervous System.

Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling

J. Mayerle, M. Leichsenring, T. Seufferlein, 2016, Gut.

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

H. Firth, A. Ekici, S. Holder, 2010, Human mutation.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

J. Hebebrand, D. Wieczorek, M. Zenker, 2013, Behavioral and Brain Functions.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning pdf

Peter M. Krawitz, Yaron Gurovich, Omri Bar, 2018, ArXiv.

Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg

R. Friedrich, M. Zenker, C. Hagel, 2020, AntiCancer Research.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

V. Pertegato, Y. Raphael, H. Prokisch, 2011, The Journal of clinical investigation.

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

S. Mundlos, J. Mulliken, A. Aylsworth, 1999, American journal of human genetics.

Pancreatic development and disease.

M. Zenker, M. Hebrok, D. Cano, 2007, Gastroenterology.

REVIEWS IN BASIC AND CLINICAL GASTROENTEROLOGY Pancreatic Development and Disease

M. Zenker, M. Hebrok, D. Cano, 2007 .

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

K. Mathews, A. Toutain, P. Shannon, 2020, Human mutation.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.

G. Smyth, A. Ekici, M. Ahmadian, 2011, The Journal of clinical investigation.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

W. Reardon, M. Simpson, R. Trembath, 2011, American journal of human genetics.

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

M. Zenker, D. Schanze, J. Zenteno, 2017, European journal of medical genetics.

Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism

M. Zenker, T. Meissner, I. Wieland, 2014, Hormone Research in Paediatrics.

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders

E. Zackai, C. Stevens, F. Brancati, 2013, American journal of medical genetics. Part A.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

M. Ryten, M. Tartaglia, M. Anselmi, 2020, Human mutation.

Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy.

K. Klingel, C. Wolf, P. Ewert, 2019, Cardiovascular diagnosis and therapy.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

M. Digilio, B. Gelb, B. Dallapiccola, 2015, Human mutation.

Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.

Brigitte Schlegelberger, Martin Zenker, D. Steinemann, 2007, Human molecular genetics.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Stefan Mundlos, Denise Horn, Dirk Schnabel, 2006, Journal of Medical Genetics.

Germline KRAS mutations cause Noonan syndrome

Kam Y. J. Zhang, Erik Sistermans, Kam Y J Zhang, 2006, Nature Genetics.

European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.

C. Wolf, M. Tartaglia, A. Verloes, 2021, European journal of medical genetics.

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy

M. Ahmadian, O. Stork, M. Zenker, 2017, PLoS genetics.

Juvenile myelomonocytic leukaemia and Noonan syndrome

Corinne Alberti, Alain Verloes, Christine Chomienne, 2014, Journal of Medical Genetics.

Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML.

C. Niemeyer, M. Zenker, H. Hasle, 2010, Blood.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma’ayan, Wendy Schackwitz, 2009 .

Biochemical and Functional Characterization of Germ Line KRAS Mutations

Gideon Bollag, Martin Zenker, Kevin Shannon, 2007, Molecular and Cellular Biology.

Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia

M. Loh, F. Locatelli, O. Haas, 2007, Leukemia.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

P. Marynen, R. Stevenson, C. Schwartz, 2008, Genome research.

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

A. Ekici, F. Rüschendorf, C. Becker, 2007, Journal of Medical Genetics.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human genetics.

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Diana Le Duc, P. Bauer, J. Hentschel, 2019, bioRxiv.

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

Bruce D. Gelb, Hélène Cavé, Mitchell W. Dillon, 2018, Genetics in Medicine.

A restricted spectrum of NRAS mutations causes Noonan syndrome

D. Horn, S. Mundlos, R. Kucherlapati, 2010, Nature Genetics.

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

M. Zenker, I. Wieland, W. Barthlen, 2022, Frontiers in Endocrinology.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

J. Hebebrand, D. Wieczorek, M. Zenker, 2013, Behavioral and Brain Functions.

Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1

A. Straube, F. Heinen, S. Berweck, 2013, BMC Neurology.

Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children

I. Smirnov, Philippe P Roux, R. Mckean-Cowdin, 2019, Genes, chromosomes & cancer.

Variants in nuclear factor I genes influence growth and development

L. Richards, R. Hennekam, R. Gronostajski, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.

Mohammad Reza Ahmadian, Radovan Dvorsky, Martin Zenker, 2013, Human molecular genetics.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

A. Ekici, D. Wieczorek, R. Abou Jamra, 2017, Genetics in Medicine.

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

M. Zenker, C. Kratz, J. Beygo, 2020, British Journal of Cancer.

A macrosomic newborn with a cystic adrenal mass

M. Zenker, H. Hümmer, T. Rupprecht, 1999, European Journal of Pediatrics.

SMARCAL1 Mutations: A Cause of Prepubertal Idiopathic Steroid-resistant Nephrotic Syndrome

J. Ehrich, L. Pape, M. Zenker, 2009, Pediatric Research.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Juliane Hoyer, Peter Nürnberg, André Reis, 2006, American journal of medical genetics. Part A.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

S. Mane, D. Lowy, K. Nakayama, 2018, Nature Communications.

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

H. Brunner, A. Varshavsky, J. Mayerle, 2011, PloS one.

Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus

M. Zenker, I. Wieland, J. Hoefele, 2022, Journal of the Endocrine Society.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

H. Firth, A. Ekici, S. Holder, 2010, Human mutation.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Long-term Culture of EBV-induced Human Lymphoblastoid Cell Lines Reveals Chromosomal Instability

T. Liehr, M. Zenker, M. Volleth, 2020, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.

Gabriele Gillessen-Kaesbach, Kerstin Kutsche, Martin Zenker, 2008, Clinical dysmorphology.

Monosomy 1p36--a recently delineated, clinically recognizable syndrome.

M. Speicher, M. Zenker, A. Rauch, 2002, Clinical dysmorphology.

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

H. Cavé, M. Ahmadian, M. Tartaglia, 2020, Human molecular genetics.

architecture-driven DNA breaks and break-induced replication duplications mediated by genomicMECP 2 Nonrecurrent Material Supplemental

P. Marynen, R. Stevenson, C. Schwartz, 2008 .

The sixth international RASopathies symposium: Precision medicine—From promise to practice

G. Rumbaugh, K. Walsh, N. Rosen, 2019, American journal of medical genetics. Part A.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

Short fragment approach for genotyping KRAS and BRAF genes in Tunisian patients with colorectal cancer

M. Zenker, R. Louati, T. Rebai, 2017 .

Clinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol

M. Wildgruber, M. Zenker, M. Kimm, 2022, CardioVascular and Interventional Radiology.

Percutaneous endovascular catheter aspiration thrombectomy of severe superior vena cava syndrome

M. Zenker, H. Singer, J. Klinge, 2002, Archives of disease in childhood. Fetal and neonatal edition.

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

M. Ahmadian, M. Zenker, C. Kratz, 2007, Journal of Medical Genetics.

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.

I. Tezcan, C. Thiel, M. Zenker, 2009, The Turkish journal of pediatrics.

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome

F. Hildebrandt, M. Zenker, K. Alhasan, 2020, American Journal of Neuroradiology.

Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.

M. Schmeisser, M. Zenker, S. Schumann, 2021, Gene expression patterns : GEP.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, R. Gershoni-baruch, G. Hülskamp, 2005, Nature Genetics.

Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1

D. Luquetti, M. Zenker, D. Cavalcanti, 2007, American journal of medical genetics. Part A.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Barbara N. Pusey, Janice S. Lee, A. V. Vulto-van Silfhout, 2015, American journal of human genetics.

Case report supporting that the Barber–Say and ablepharon macrostomia syndromes could represent one disorder

T. Haaf, R. Ullmann, M. Zenker, 2009, American journal of medical genetics. Part A.

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

A. Ekici, J. Brandstätter, T. Aigner, 2011, American journal of human genetics.

Hydrops fetalis caused by chylothorax: an exception to the rule.

M. Zenker, M. Ries, 1997, Journal of perinatal medicine.

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

S. Tinschert, M. Zenker, T. Tüting, 2019, Pigment cell & melanoma research.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Trevor J Pugh, L. Pennacchio, J. Priest, 2015, Human mutation.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

Novel UBR1 gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome

N. Rezaei, M. Zenker, N. Parvaneh, 2011, European Journal of Pediatrics.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

J. Lupski, G. Ravenscroft, N. Laing, 2020, Nature Communications.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

T. Strom, A. Ekici, M. Nothnagel, 2018, European Journal of Human Genetics.

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Bethan E. Hoskins, A. Bakkaloğlu, F. Hildebrandt, 2006, Kidney international.

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Denny Schanze, Sofia Douzgou, Martin Zenker, 2013, European journal of medical genetics.

Paravertebral and intraspinal malposition of transfemoral central venous catheters in newborns.

M. Zenker, M. Hofbeck, M. Ries, 2000, The Journal of pediatrics.

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.

E. I. Pierpont, A. Roberts, M. Zenker, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome

T. Aigner, J. Weis, R. Bouvier, 2007, American journal of medical genetics. Part A.

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome

J. Dötsch, M. Zenker, A. Reis, 2004, American journal of medical genetics. Part A.

Unilateral Kidney Agenesis in a Child with Fraser Syndrome: A Case Report

M. Zenker, Zahra Metanat, S. Tabatabaei, 2017 .

Mutations in GRIP1 cause Fraser syndrome

P. Scambler, M. Vogel, E. Blair, 2012, Journal of Medical Genetics.

M. Zenker, D. Schanze, T. Sierpińska, 2020, American journal of medical genetics. Part A.

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

R. Hennekam, C. Stevens, F. Brancati, 2017, Molecular Syndromology.

Transmission of Barber–Say syndrome from a mosaic father to his child in an Indian family

S. Kapoor, Royana Singh, M. Zenker, 2016, Clinical dysmorphology.

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

Mitchell W Dillon, H. Cavé, B. Gelb, 2018, Genetics in Medicine.

Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report

A. Bozzato, M. Zenker, K. Bumm, 2009, Cases journal.

Severe, neonatal‐onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)

I. Knerr, M. Zenker, A. Reis, 2005, American journal of medical genetics. Part A.

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.

M. Zenker, D. Schanze, L. C. Zepeda-Romero, 2022, European journal of medical genetics.

bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling

M. Ahmadian, M. Zenker, R. Piekorz, 2018, Cell Communication and Signaling.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

M. Zenker, K. Kutsche, C. Petersen, 2012, European journal of medical genetics.

KRAS Mutation in an Implant-associated Peripheral Giant Cell Granuloma of the Jaw: Implications of Genetic Analysis of the Lesion for Treatment Concept and Surveillance

A. Luebke, R. Friedrich, M. Zenker, 2021, In Vivo.

Food‐Derived Xeno‐microRNAs: Influence of Diet and Detectability in Gastrointestinal Tract—Proof‐of‐Principle Study

P. Malfertheiner, A. Canbay, M. Zenker, 2018, Molecular nutrition & food research.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

F. Hildebrandt, M. Zenker, Shih-Hua Lin, 2018, Orphanet Journal of Rare Diseases.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency

M. Zenker, T. Rohrer, S. Wagenpfeil, 2017, Klinische Pädiatrie.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

L. Vissers, H. Cavé, B. Gelb, 2021, American journal of human genetics.

QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

A. Borkhardt, D. Wieczorek, R. Abou Jamra, 2020, Clinical genetics.

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.

A. Winterpacht, H. Sticht, M. Zenker, 2004, American journal of human genetics.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

A. Ekici, D. Wieczorek, L. Taher, 2019, European Journal of Human Genetics.

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

J. Argente, N. Rezaei, M. Zenker, 2017, Molecular Genetics & Genomic Medicine.

Severe pulmonary hypertension in a neonate caused by premature closure of the ductus arteriosus following maternal treatment with diclofenac: a case report.

J. Scharf, M. Zenker, H. Singer, 1998, Journal of perinatal medicine.

Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling

M. Zenker, 2008 .

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

A. Hoischen, Martin Kircher, D. Horn, 2023, Nature.

Severe bleeding diathesis in a premature baby with extensive hepatic necrosis due to portal vein thrombosis of prenatal onset

M. Zenker, E. Fischer, R. Rauch, 1999, Annals of Hematology.

Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children.

M. Zenker, I. Wieland, W. Barthlen, 2016, Pediatric endocrinology reviews : PER.

Ophthalmological aspects of Pierson syndrome.

Dorothy A. Thompson, R. Hennekam, M. Zenker, 2008, American journal of ophthalmology.

Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study

H. Völzke, C. Schurmann, G. Homuth, 2014, Gut.

Generation of functional cardiomyocytes from rat embryonic and induced pluripotent stem cells using feeder-free expansion and differentiation in suspension culture

A. Schnieke, M. Zenker, M. Volleth, 2018, PloS one.

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.

J. Mayerle, M. Lerch, M. Zenker, 2006, Endocrinology and metabolism clinics of North America.

Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

M. Guitart-Masip, E. Düzel, B. Schott, 2014, Front. Syst. Neurosci..

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males

A. Meindl, H. Hellebrand, W. Rascher, 2007, American journal of medical genetics. Part A.

X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant.

M. Zenker, Shuan-Pei Lin, Jui-Hsing Chang, 2022, Pediatrics and neonatology.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

D. Prayer, A. Mégarbané, D. Wieczorek, 2015, Human mutation.

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

J. Dötsch, H. Dörr, W. Rascher, 2008, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

J. Roach, B. D. de Vries, K. Prescott, 2015, American journal of human genetics.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

M. Skalej, S. Mane, R. Lifton, 2021, Journal of the American Society of Nephrology : JASN.

RASopathien

M. Zenker, K. Kutsche, 2016, medizinische genetik.

Behavioral and Neural Manifestations of Reward Memory in Carriers of Low-Expressing versus High-Expressing Genetic Variants of the Dopamine D2 Receptor

Joram Soch, Denny Schanze, Björn H. Schott, 2017, Front. Psychol..

Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

M. Guitart-Masip, E. Düzel, B. Schott, 2015, Front. Syst. Neurosci..

Impact of the COVID-19 Pandemic Regulations on the Health Status and Medical Care of Children with Trisomy 21

M. Zenker, R. Haase, G. Jorch, 2022, Klinische Pädiatrie.

Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancer

M. Zenker, J. Skieceviciene, R. Vílchez-Vargas, 2023, Scientific Reports.

Alteration of myocardial structure and function in RAF1-associated Noonan syndrome: Insights from cardiac disease modeling based on patient-derived iPSCs

J. Schmitt, A. Reichert, B. Gelb, 2022, bioRxiv.

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Andrew R. Grant, Mitchell W Dillon, H. Cavé, 2018, bioRxiv.

M. Zenker, V. Vetter, R. Rauch, 1999, Acta paediatrica.

bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling

M. Ahmadian, M. Zenker, R. Piekorz, 2018, Cell Communication and Signaling.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1

B. Tüysüz, M. Zenker, G. Yeşil, 2021, American journal of medical genetics. Part A.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

A. Ekici, D. Wieczorek, L. Taher, 2019, European Journal of Human Genetics.

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Andrew R. Grant, Mitchell W Dillon, H. Cavé, 2018, bioRxiv.

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability

Ante Karoglan, C. Bär, M. Zenker, 2019, American journal of medical genetics. Part A.

Phenotype and natural history in Marshall–Smith syndrome

Martin Zenker, Silvija Pušeljić, Geert Mortier, 2010, American journal of medical genetics. Part A.

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

K. Amann, M. Zenker, M. Kemper, 2012, Pediatric Nephrology.

Syndromic forms of congenital hyperinsulinism

M. Zenker, K. Mohnike, Katja Palm, 2023, Frontiers in Endocrinology.

Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?

Z. Stark, M. Zenker, S. Kant, 2015, American journal of medical genetics. Part A.

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

E. Seemanová, M. Zenker, M. Koudova, 2009, European journal of medical genetics.

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria‐congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

H. Nizze, M. Zenker, V. Matejas, 2011, American journal of medical genetics. Part A.

A milder variant of Pierson syndrome

C. Vlangos, M. Zenker, A. Cohen, 2008, Pediatric Nephrology.

Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia

D. Horn, H. Sticht, M. Zenker, 2006, American Journal of Medical Genetics. Part A.

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

P. Jonveaux, M. Zenker, A. Reis, 2005, American journal of medical genetics. Part A.

[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].

M. Zenker, Iga Załuska-Leśniewska, A. Zurowska, 2006, Przeglad lekarski.

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome

D. Steinemann, C. Niemeyer, M. Zenker, 2007, Leukemia.

Oligohydramnios associated with sonographically normal kidneys.

A. Hübler, K. Amann, M. Zenker, 2012, Urology.

Aplasia cutis congenita in a CDC42‐related developmental phenotype

B. Wollnik, M. Zenker, S. Kamphausen, 2020, American journal of medical genetics. Part A.

Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy

J. Ottenkamp, A. Kariminejad, M. Zenker, 2008, American journal of medical genetics. Part A.

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.

M. Zenker, Y. Koda, D. Bertola, 2014, Genetics and molecular research : GMR.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

Clinical utility gene card for: Johanson–Blizzard syndrome

J. Mayerle, M. Zenker, M. Sukalo, 2013, European Journal of Human Genetics.

Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach

R. Moll, H. Rehder, M. Zenker, 2012, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Johanson-Blizzard syndrome.

M. Zenker, Nabeel Almashraki, M. Sukalo, 2011, World journal of gastroenterology.

Eponym: Johanson-Blizzard syndrome.

N. Rezaei, M. Zenker, Zhifeng Liu, 2011 .

Johanson–Blizzard syndrome: Hepatic and hematological features with novel genotype

S. Kapoor, M. Zenker, D. Dhingra, 2013, Indian Journal of Gastroenterology.

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

F. Alkuraya, J. Mayerle, M. Zenker, 2008 .

A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development

M. Zenker, F. Faravelli, F. Forzano, 2012, Clinical Dysmorphology.

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.

M. Zenker, N. Alkhouri, Barbara Kaplan, 2008, World journal of gastroenterology.

case report: Occurrence of the Rare Syndrome of Johanson-Blizzard in a Child - Longitudinal Observations

M. Zenker, L. Baleva, A. Sipyagina, 2015 .

Adams–Oliver syndrome caused by mutations of the EOGT gene

M. Tekin, D. Duman, W. Wuyts, 2019, American journal of medical genetics. Part A.

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues

J. Schmitt, A. Reichert, B. Gelb, 2023, Communications biology.

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

T. Eggermann, M. Zenker, C. Kratz, 2020, British Journal of Cancer.

NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.

Ameneh Zare-Shahabadi, N. Rezaei, M. Zenker, 2012, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

S. Robertson, K. Devriendt, G. Scarano, 2012, Human mutation.

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations

Z. Stark, M. Zenker, A. Rauch, 2015, American journal of medical genetics. Part A.

Fraser syndrome due to homozygosity for a splice site mutation of FREM2

M. Zenker, G. Vakili, Y. Shafeghati, 2008, American journal of medical genetics. Part A.

Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome

M. Zenker, A. Reis, K. Mark, 2006, Prenatal diagnosis.

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, A. Ekici, R. Gershoni-baruch, 2006, Nature Genetics.

Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients

M. Zenker, P. Mertens, D. Schanze, 2018, Nephron.

Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome.

H. Thieme, M. Hoffmann, M. Zenker, 2015, Investigative ophthalmology & visual science.

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

M. Weedon, S. Ellard, M. Wabitsch, 2020, Wellcome open research.

Heterozygous Loss-of-Function Mutations in DLL 4 Cause Adams-Oliver Syndrome Report

J. Roach, K. Prescott, P. Itin, 2018 .

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.

M. Zenker, Y. Koda, D. Bertola, 2014 .

Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

M. Zenker, M. Sukalo, C. A. Kim, 2014 .

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

S. Shvartsman, J. Albeck, M. Therrien, 2018, American Journal of Medical Genetics. Part A.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf‐Hirschhorn syndrome

M. Zenker, M. Volleth, I. Wieland, 2014, American journal of medical genetics. Part A.

[Primary central nervous system lymphomas].

James V. Leonard, A. L. Wong, I. Módy, 2010, Vnitrni lekarstvi.

UBR1, the N-End-Rule Pathway, and the Johanson-Blizzard Syndrome

M. Zenker, 2016 .

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.

E. Percin, M. Zenker, G. Kayhan, 2019, European journal of medical genetics.

Johanson-Blizzard syndrome.

M. Zenker, Nabeel Almashraki, M. Sukalo, 2011, World journal of gastroenterology.

Correction to: The landscape of epilepsy-related GATOR1 variants

Anne de Saint Martin, A. Biraben, F. Bartolomei, 2018, Genetics in Medicine.

Germline RRAS2 mutations are not associated with Noonan syndrome

M. Loh, M. Zenker, C. Lissewski, 2016, Journal of Medical Genetics.

Improvement of synaptic plasticity and cognitive function in RASopathies—a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS)

N. Jung, V. Mall, M. Zenker, 2023, Trials.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis‐Noonan syndrome

R. Fahsold, C. Thiel, H. Sticht, 2009, American journal of medical genetics. Part A.

The face of Noonan syndrome: Does phenotype predict genotype

D. Horn, J. Allanson, D. Wieczorek, 2010, American journal of medical genetics. Part A.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

E. Seemanová, M. Zenker, M. Koudova, 2009, European journal of medical genetics.

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

A. Wittinghofer, M. Ahmadian, M. Zenker, 2011, Human mutation.

Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation

M. Zenker, C. Lissewski, K. Karaer, 2015, American journal of medical genetics. Part A.

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo

E. Gundelfinger, M. Zenker, R. Frischknecht, 2015, The EMBO journal.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Juvenile myelomonocytic leukaemia and Noonan syndrome

A. Baruchel, H. Cavé, S. Gazal, 2014, Journal of Medical Genetics.

Magnetic resonance lung function – a breakthrough for lung imaging and functional assessment? A phantom study and clinical trial

Bernhard Geiger, Rainer Kuth, Michael Deimling, 2006, Respiratory research.

Bleeding diathesis in Noonan syndrome: is acquired von Willebrand syndrome the clue?

M. Zenker, M. Hofbeck, R. Rauch, 2012, Thrombosis Research.

Identifying facial phenotypes of genetic disorders using deep learning

Yaron Gurovich, N. Fleischer, P. Krawitz, 2019, Nature Medicine.

H. Völzke, C. Schurmann, G. Homuth, 2014, Gut.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

Phenotype and natural history in Marshall–Smith syndrome

R. Hennekam, G. Mortier, S. Knight, 2010, American journal of medical genetics. Part A.

[Primary liver cancer].

James V. Leonard, A. L. Wong, I. Módy, 1989, Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

W. Reardon, M. Simpson, R. Trembath, 2011, American Journal of Human Genetics.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria‐congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

H. Nizze, M. Zenker, M. Wigger, 2011, American journal of medical genetics. Part A.