M. Ludwig

发表

VARIANT OF THE CHEK2GENE AS A PROGNOSTIC MARKER IN GLIOBLASTOMA MULTIFORME

R. Fimmers, J. Schramm, M. Simon, 2006, Neurosurgery.

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

M. Lentze, M. Ludwig, B. Utsch, 2002, Human Genetics.

Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias

M. Lentze, M. Ludwig, B. Utsch, 2003, Scandinavian journal of urology and nephrology.

Genetic and molecular aspects of hypospadias.

M. Ludwig, B. Utsch, N. Albers, 2004, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?

J. Altmüller, H. Thiele, H. Reutter, 2017, Molecular medicine reports.

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

I. V. van Rooij, D. Tibboel, V. Tasic, 2013, Kidney international.

Dent disease‐like phenotype and the chloride channel ClC‐4 (CLCN4) gene

M. Ludwig, B. Utsch, 2004, American journal of medical genetics. Part A.

Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma

O. Lichtarge, Hongde Liu, M. Gromiha, 2019, Cancers.

Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis

R. Schubert, S. Zielen, T. Wagner, 2020, Frontiers in Genetics.

Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias.

M. Nöthen, L. Wittler, H. Reutter, 2010, Birth defects research. Part A, Clinical and molecular teratology.

Bladder exstrophy–epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients

C. Thauvin-Robinet, H. Reutter, W. Rösch, 2006, Scandinavian journal of urology and nephrology.

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.

R. Topaloğlu, M. Ludwig, A. Çelebi Tayfur, 2013, The Turkish journal of pediatrics.

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

F. Anglani, V. Tasic, M. Litwin, 2015, Pediatric Nephrology.

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

M. Nöthen, S. Moebus, A. Brusco, 2016, BMC Medical Genetics.

A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review

M. Zaniew, B. Hoppe, M. Feldkötter, 2019, Lower urinary tract symptoms.

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Da I Jung, M. Nöthen, I. V. van Rooij, 2022, HGG advances.

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity

H. Biebermann, C. Roth, Zhen‐Chuan Fan, 2009, Endocrine.

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

H. Reutter, M. Ludwig, G. Dworschak, 2021, Orphanet Journal of Rare Diseases.

Dent disease in Poland: what we have learned so far?

M. Zaniew, M. Mizerska-Wasiak, K. Pawlaczyk, 2017, International Urology and Nephrology.

Hypercalciuria in patients with CLCN5 mutations

M. Ludwig, B. Utsch, A. Bökenkamp, 2006, Pediatric Nephrology.

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort

Se Jin Park, F. Anglani, J. Moczko, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system.

A. Ziegler, J. Schramm, A. Boström, 2006, Journal of neurosurgery.

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

L. Kiemeney, P. Tam, I. V. van Rooij, 2019, PloS one.

Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene.

M. Nöthen, H. Reutter, M. Ludwig, 2012, International journal of molecular medicine.

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

S. Heilmann-Heimbach, M. Lacher, Amit Sharma, 2020, PloS one.

Ubiquitin Carboxyl-Terminal Hydrolases (UCHs): Potential Mediators for Cancer and Neurodegeneration

Hongde Liu, Amit Sharma, U. Wüllner, 2020, International journal of molecular sciences.

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.

Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.

M. Ludwig, W. Sippell, N. Krone, 2003, The Journal of clinical endocrinology and metabolism.

Dent-2 disease: a mild variant of Lowe syndrome.

V. Tasic, H. Cheong, B. Hoppe, 2009, The Journal of pediatrics.

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

V. Tasic, E. Levtchenko, D. Bockenhauer, 2008, Clinical journal of the American Society of Nephrology : CJASN.

Disorders of the Renal Proximal Tubule

M. Ludwig, A. Bökenkamp, 2010, Nephron Physiology.

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

F. Hildebrandt, H. Reutter, M. Ludwig, 2016, Pediatric Nephrology.

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

G. Yamada, K. Keppler-Noreuil, H. Thiele, 2015, Current genomics.

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

M. Nöthen, I. V. van Rooij, M. Mattheisen, 2012, Clinical dysmorphology.

Inheritance of the VATER/VACTERL association

M. Nöthen, B. Solomon, N. Zwink, 2012, Pediatric Surgery International.

p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue.

L. Qi, L. Wittler, J. Gearhart, 2010, International journal of molecular medicine.

Towards a Central Role of ISL1 in the Bladder Exstrophy–Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling

H. Fröhlich, Amit Sharma, H. Reutter, 2018, Genes.

Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.

U. Gembruch, H. Reutter, M. Ludwig, 2015, Molecular medicine reports.

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

I. V. van Rooij, G. Kristiansen, W. Newman, 2019, American journal of human genetics.

VATER/VACTERL Association: Evidence for the Role of Genetic Factors

H. Reutter, M. Ludwig, Michael Ludwig, 2012, Molecular Syndromology.

Familial occurrence of the VATER/VACTERL association

M. Nöthen, P. Hoffmann, H. Reutter, 2012, Pediatric Surgery International.

Novel NCCT Gene Mutations as a Cause of Gitelman’s Syndrome and a Systematic Review of Mutant and Polymorphic NCCT Alleles

M. Ludwig, B. Utsch, B. Weisser, 2003, Kidney and Blood Pressure Research.

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

S. Mundlos, T. M. Williams, Davor Mikulić, 2004, Human molecular genetics.

Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome

Colleen D. McCabe, M. Born, J. Dötsch, 2007, American journal of medical genetics. Part A.

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis

M. Ludwig, M. Draaken, F. Ozaltin, 2009, European Journal of Pediatrics.

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.

M. Born, H. Reutter, M. Ludwig, 2013, International journal of molecular medicine.

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

I. V. van Rooij, D. Werring, J. Riancho, 2022, Communications Biology.

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations

R. Pfundt, M. Nöthen, I. V. van Rooij, 2013, American journal of medical genetics. Part A.

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.

M. Nöthen, M. Lacher, N. Zwink, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene

H. Reutter, M. Ludwig, Nirmala Gurung, 2014, American journal of medical genetics. Part A.

The oculocerebrorenal syndrome of Lowe: an update

M. Ludwig, A. Bökenkamp, 2016, Pediatric Nephrology.

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: Evidence for a common cause?

J. Martignetti, A. Difeo, J. Dötsch, 2006, American journal of medical genetics. Part A.

Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations

H. Reutter, M. Ludwig, 2012, Journal of Pediatric Genetics.

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.

M. Nöthen, M. Lacher, N. Zwink, 2014, Birth defects research. Part A, Clinical and molecular teratology.

The Exstrophy-epispadias complex

H. Reutter, W. Rösch, A. Ebert, 2009, Orphanet Journal of Rare Diseases.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Peter Nürnberg, Peter Frommolt, Janine Altmüller, 2011, American journal of human genetics.

Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca

H. Reutter, M. Ludwig, T. Boemers, 2008, Pediatric Surgery International.

Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.

T. Höller, J. Gearhart, S. Boyadjiev, 2008, The Journal of urology.

Hemoglobin Andrew-Minneapolis: Hemolytic Erythrocytosis and Severe Iron Overload in Toxic Liver Cirrhosis

B. Stoffel‐Wagner, M. Ludwig, B. Zur, 2012, Annals of laboratory medicine.

Bladder exstrophy-epispadias complex.

S. Boyadjiev, H. Reutter, M. Ludwig, 2009, Birth defects research. Part A, Clinical and molecular teratology.

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

M. Nöthen, B. Herrmann, L. Wittler, 2013, European Journal of Human Genetics.

De novo microduplication at 22q11.21 in a patient with VACTERL association.

M. Nöthen, S. Aretz, F. Brockschmidt, 2011, European journal of medical genetics.

Investigation of the role of TCF4 rare sequence variants in schizophrenia

D. Rujescu, S. Cichon, M. Rietschel, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Epispadias and the associated embryopathies: genetic and developmental basis

A. Murashima, G. Yamada, H. Reutter, 2017, Clinical genetics.

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

M. Nöthen, S. Moebus, M. Mattheisen, 2015, PLoS genetics.

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

M. Nöthen, I. V. van Rooij, T. Becker, 2014, Human molecular genetics.

Alternative splicing of the p15 cdk inhibitor in glioblastoma multiforme

J. Schramm, M. Watzka, M. Simon, 2001, Acta Neuropathologica.

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency

H. Reutter, M. Ludwig, A. Hilger, 2017, Hormone Research in Paediatrics.

Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2

D. Rujescu, S. Cichon, I. Giegling, 2016, Psychiatric genetics.

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

D. Nilsson, A. Lindstrand, G. Barker, 2015, Human molecular genetics.

WNT 3 involvement in human bladder exstrophy and cloaca development in zebra fi sh

D. Nilsson, A. Lindstrand, G. Barker, 2015 .

X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset

M. Wichers, M. Ludwig, F. Bidlingmaier, 1999, Human Genetics.

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

D. Tibboel, M. Lacher, P. Hoffmann, 2016, European Journal of Human Genetics.

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

K. Chrzanowska, R. Jabs, S. Aretz, 2011, Human Genetics.

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature

M. Nöthen, P. Hoffmann, S. Aretz, 2011, European Journal of Pediatrics.

HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum

F. Hildebrandt, S. Herms, H. Thiele, 2019, Birth defects research.

Genome‐wide analysis for micro‐aberrations in familial exstrophy of the bladder using array‐based comparative genomic hybridization

A. Hoischen, H. Engels, B. Radlwimmer, 2007, BJU international.

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

I. V. van Rooij, W. Newman, M. Lacher, 2020, Frontiers in Cell and Developmental Biology.

Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology

L. Qi, J. Gearhart, S. Boyadjiev, 2007, American journal of medical genetics. Part A.

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

H. Reutter, M. Ludwig, B. Kazmierczak, 2011, Cytogenetic and Genome Research.

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex.

F. Martínez-Murillo, L. Qi, L. Wittler, 2011, International journal of molecular medicine.

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

U. Gembruch, H. Reutter, M. Ludwig, 2016, Journal of Neurodevelopmental Disorders.

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2

H. Engels, H. Reutter, M. Ludwig, 2017, Clinical genetics.

PPAR-Responsive Elements Enriched with Alu Repeats May Contribute to Distinctive PPARγ–DNMT1 Interactions in the Genome

O. Lichtarge, Hongde Liu, Panagiotis Katsonis, 2021, Cancers.

Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.

K. Cremer, A. Zink, H. Engels, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

L. Monnens, M. Ludwig, B. Utsch, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Proteinuria in Dent disease: a review of the literature

M. Ludwig, J. V. van Wijk, A. Bökenkamp, 2016, Pediatric Nephrology.

Four Additional CLCN5 Exons Encode a Widely Expressed Novel Long CLC-5 Isoform but Fail to Explain Dent’s Phenotype in Patients without Mutations in the Short Variant

S. Waldegger, M. Nuutinen, M. Ludwig, 2003, Kidney and Blood Pressure Research.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis

P. Hoffmann, S. Aretz, M. Ludwig, 2012, Human mutation.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

M. Nöthen, J. Gearhart, S. Boyadjiev, 2011, The Journal of pediatrics.

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

M. Nöthen, S. Moebus, P. Hoffmann, 2013, Birth defects research. Part A, Clinical and molecular teratology.

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia

M. Ludwig, A. Bökenkamp, J. V. Wijk, 2005, Pediatric Nephrology.

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.

M. Mattheisen, L. Qi, J. Gearhart, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Genome-wide linkage scan for bladder exstrophy-epispadias complex.

N. Hübner, F. Rüschendorf, K. Saar, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Clinical and laboratory features of Macedonian children with OCRL mutations

Z. Gucev, V. Tasic, M. Ludwig, 2011, Pediatric Nephrology.

A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL

M. Born, V. Tasic, M. Refke, 2012, Klinische Pädiatrie.

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

I. V. van Rooij, H. Brunner, R. Hofstra, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Novel OCRL mutations in patients with Dent-2 disease

T. Sirimanna, R. Unwin, M. Nuutinen, 2012, Journal of Pediatric Genetics.

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

M. Ludwig, N. Stajić, R. Bogdanović, 2010, Pediatric Nephrology.

Vitamin A responsive night blindness in Dent’s disease

A. Bagga, M. Kabra, M. Ludwig, 2009, Pediatric Nephrology.

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

V. Tasic, B. Hoppe, J. Dötsch, 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization

S. Waldegger, M. Nuutinen, M. Ludwig, 2005, Human Genetics.

A case of Type 1 Dent disease presenting with isolated persistent proteinuria

M. Ludwig, E. Çakıcı, F. K. Eroğlu, 2018, Turk pediatri arsivi.

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.

M. Nöthen, B. Herrmann, L. Wittler, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.

M. Nöthen, S. Moebus, P. Hoffmann, 2010, European journal of medical genetics.

[Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)].

H. Reutter, M. Ludwig, B. Utsch, 2005, Der Urologe. Ausg. A.

A novel epithelial sodium channel β-subunit mutation associated with hypertensive Liddle syndrome

M. Ludwig, M. Freundlich, 2005, Pediatric Nephrology.

Identification of an Alu‐mediated 12.2‐kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair

R. Betz, H. Atasoy, S. Pasternack, 2012, Experimental dermatology.

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

Wei Cheng, W. Newman, C. Khor, 2017, Scientific Reports.

Association of Homozygous α-Thalassaemia of the Southeast Asian Type with Hypospadias: Still an Intriguing Enigma

M. Lentze, M. Ludwig, B. Utsch, 2002, Fetal Diagnosis and Therapy.

Homozygous α‐thalassemia associated with hypospadias: SEA‐type deletion does not affect expression of the ‐14 gene and loss of the θ1‐globin gene on 16p13.3 is compensated by its duplicate θ2 on chromosome 10

M. Lentze, M. Ludwig, B. Utsch, 2001 .

Novel techniques and newer markers for the evaluation of “proximal tubular dysfunction”

M. Ludwig, S. Sethi, 2011, International Urology and Nephrology.

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.

A. Becker, B. Herrmann, B. Odermatt, 2018, Birth defects research.

VARIANT OF THE CHEK2GENE AS A PROGNOSTIC MARKERIN GLIOBLASTOMA MULTIFORME

Rolf Fimmers, Michael Ludwig, R. Fimmers, 2006 .

Abstracts of the 51st Annual ESPN Meeting, Antalya, October 2018

Carmine, Pape, W. Newman, 2018, Pediatric nephrology (Berlin, West).

Liddle syndrome in a Serbian family and literature review of underlying mutations

M. Ludwig, A. Hilger, N. Stajić, 2012, European Journal of Pediatrics.

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

F. Recker, H. Reutter, M. Ludwig, 2013, Journal of Pediatric Genetics.

Dent disease in children: diagnostic and therapeutic considerations.

M. Zaniew, M. Mizerska-Wasiak, K. Pawlaczyk, 2015, Clinical Nephrology.

Oxygen Saturation in Pulse Oximetry in Hemoglobin Anomalies

B. Stoffel‐Wagner, M. Ludwig, B. Zur, 2012, Klinische Pädiatrie.

Possible association of Down syndrome and exstrophy–epispadias complex: report of two new cases and review of the literature

H. Reutter, W. Rösch, M. Ludwig, 2009, European Journal of Pediatrics.

MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?

R. Betz, H. Reutter, M. Ludwig, 2006, European Journal of Pediatrics.

Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient

M. Ludwig, M. Bald, M. Holder, 2003, Pediatric Nephrology.

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

M. Nöthen, O. el-Maarri, F. Hildebrandt, 2015, Human mutation.

Frequent detection of Saffold cardiovirus in adenoids

F. Bootz, S. Herberhold, M. Ludwig, 2019, PloS one.

Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder.

M. Nöthen, M. Mattheisen, J. Schumacher, 2012, Birth defects research. Part A, Clinical and molecular teratology.

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.

Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients

Manuel Mattheisen, Markus M. Nöthen, Sven Cichon, 2011, Schizophrenia Research.

Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)

E. Levtchenko, M. Ludwig, A. Bökenkamp, 2014, European Journal of Human Genetics.

Genetics of Lowe Oculocerebrorenal Syndrome

M. Ludwig, A. Bökenkamp, 2019, eLS.

Dent’s disease type 1 in a boy with severe hyperopia and mental dysfunction: a case report

M. Ludwig, M. Zajączkowska, M. Majewski, 2014 .

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

M. Ludwig, R. Bogdanović, M. Samardzic, 2011, Journal of medical case reports.

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.

M. Ludwig, H. Seyberth, F. Ozaltin, 2005, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

A. Hofmann, U. Gembruch, H. Reutter, 2016, Journal of Neurodevelopmental Disorders.

Clinical utility gene card for: Lowe syndrome

E. Levtchenko, F. Recker, M. Ludwig, 2014, European Journal of Human Genetics.

Liddle syndrome in a Turkish family with heterogeneous phenotypes

M. Ludwig, D. Karçaaltıncaba, O. Ozdemir, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

Case–control studies of novel hemoglobin anomalies as differential diagnosis in sleep apnea syndrome

B. Stoffel‐Wagner, M. Ludwig, B. Zur, 2013, Sleep and Breathing.

A 14-year-old boy with chronic cyanosis, mild anemia, and limited physical resistance to stress.

B. Stoffel‐Wagner, M. Ludwig, B. Zur, 2012, Clinical chemistry.

Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers.

H. Reutter, M. Ludwig, A. Hilger, 2018, Asia Pacific journal of clinical nutrition.