U. Hehr

发表

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

J. Winkler, W. Reardon, E. Phelan, 2005, Journal of Medical Genetics.

ARX mutations in X-linked lissencephaly with abnormal genitalia

J. Winkler, L. Aigner, U. Hehr, 2003, Neurology.

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

A. Ekici, E. Boltshauser, C. Thiel, 2010, Molecular Syndromology.

DCX-Related Disorders

J. Winkler, S. Couillard-Després, L. Aigner, 2011 .

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

M. Hoopmann, G. Schuierer, B. Schoser, 2019, Orphanet Journal of Rare Diseases.

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

J. Winkler, E. Boltshauser, U. Hehr, 2005, European Journal of Pediatrics.

Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum

K. Zerres, S. Rudnik-Schöneborn, L. Graul-Neumann, 2011, Molecular Syndromology.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

T. Wieland, T. Strom, H. Prokisch, 2017, European Journal of Human Genetics.

International consensus recommendations on the diagnostic work-up for malformations of cortical development

E. Aronica, O. Reiner, L. M. Valor, 2020, Nature Reviews Neurology.

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.

M. Ladd, H. Quick, S. Maderwald, 2017, Journal of neurosurgery.

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

H. Topaloglu, G. Kale, T. Willer, 2005, Neuromuscular Disorders.

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

U. Bogdahn, G. Schuierer, J. Winkler, 2007, Neurogenetics.

R. Borgatti, E. Valente, A. Poretti, 2017, European Radiology.

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

R. Borgatti, E. Valente, A. Poretti, 2017, European Radiology.

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Francisco J. Medrano, S. Brunak, V. Moreno, 2022, Human molecular genetics.

47 patients with FLNA associated periventricular nodular heterotopia

J. Winkler, A. Ferbert, G. Schuierer, 2015, Orphanet Journal of Rare Diseases.

Paternal inheritance of classic X‐linked bilateral periventricular nodular heterotopia

H. Hamer, J. Winkler, E. Pauli, 2013, American journal of medical genetics. Part A.

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

P. Bauer, R. Schüle, L. Schöls, 2009, neurogenetics.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

A. Fry, D. Pilz, W. Dobyns, 2013, Brain : a journal of neurology.

Molecular Genetic Testing of Patients with Craniosynostosis

U. Hehr, 2011 .

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

P. Heidemann, U. Hehr, A. Hehr, 2004, European Journal of Pediatrics.

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

L. Willen, H. Schneider, P. Schneider, 2022, Frontiers in genetics.

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

R. Chaoui, D. Wieczorek, U. Grasshoff, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

J. Winkler, U. Bogdahn, P. Bauer, 2007, Annals of neurology.

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

D. Baralle, A. Laquérriere, S. Mansour, 2022, Journal of Medical Genetics.

Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression

T. Lange, L. Maier, M. Evert, 2021, International Journal of Infectious Diseases.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother?

C. Shaw-Smith, A. Coffey, E. Howard, 2007, American journal of medical genetics. Part A.

Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature

U. Bogdahn, J. Winkler, B. Winner, 2006, Clinical Neurology and Neurosurgery.

Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy

M. Blankenburg, A. Bornemann, U. Hehr, 2013, neurogenetics.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

H. van Bokhoven, S. Çırak, T. Voit, 2010, Neurology.

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

J. Winkler, S. Klebe, P. Bauer, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

L. Kaderali, U. Felbor, U. Sure, 2016, Molecular genetics & genomic medicine.

The mutational spectrum of holoprosencephaly‐associated changes within the SHH gene in humans predicts loss‐of‐function through either key structural alterations of the ligand or its altered synthesis

S. Bale, A. Paulussen, D. Pineda-Alvarez, 2009, Human mutation.

CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review

G. Hasenfuss, C. Riedel, M. Bähr, 2020 .

ARX and SHH gene mutation analyses revealed no mutation in patients with agenesis/dysgenesis of the corpus callosum

B. Ertl-Wagner, H. Voss, C. Schell-Apacik, 2010, Journal of Pediatric Neurology.

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

J. Winkler, D. Pineda-Alvarez, M. Muenke, 2010, Human Genetics.

Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed‐lip schizencephaly and partial absence of the corpus callosum

B. Ertl-Wagner, M. Muenke, C. Schell-Apacik, 2009, American journal of medical genetics. Part A.

The full spectrum of holoprosencephaly‐associated mutations within the ZIC2 gene in humans predicts loss‐of‐function as the predominant disease mechanism

S. Bale, A. Paulussen, M. Muenke, 2009, Human mutation.

Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.

J. Winkler, H. Topaloglu, B. Talim, 2004, Acta myologica.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

J. Winkler, U. Bogdahn, G. Schuierer, 2007, Neurology.

An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

J. Winkler, B. Winner, Z. Kohl, 2022, Nature Communications.

Polar Body Diagnosis for Monogenic Disorders in Regensburg

M. Bals-Pratsch, U. Hehr, A. Hehr, 2009 .

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

J. Winkler, K. Zerres, S. Rudnik-Schöneborn, 2009, Neuropediatrics.

Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy

M. Blankenburg, A. Bornemann, U. Hehr, 2013, neurogenetics.

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

M. Nöthen, S. Brunak, V. Moreno, 2021, medRxiv.

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

J. Winkler, B. Winner, B. Anlar, 2006, Neuropediatrics.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

M. Spence, S. Bale, A. Paulussen, 2012, Journal of Medical Genetics.

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

S. Sel, C. Spaich, A. Röpke, 2009, American journal of human genetics.

Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) – Recommendations and Statements for Girls and Women

M. Lux, M. Beckmann, T. Fehm, 2018, Geburtshilfe und Frauenheilkunde.

In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC)

F. Grassmann, C. Brandl, C. Wetzel, 2014, NeuroMolecular Medicine.

Genetic Counseling and Testing Prior to Assisted Reproduction

U. Hehr, S. Markus, 2009 .

Defining the phenotypical spectrum associated with variants in TUBB2A

D. Wieczorek, I. Krägeloh-Mann, G. Mancini, 2020, Journal of Medical Genetics.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

T. Wieland, T. Strom, H. Prokisch, 2016, European Journal of Human Genetics.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Frequency and phenotype of SPG11 and SPG15 in complicated spastic paraplegia (HSP)

P. Bauer, R. Schüle, L. Schöls, 2019 .

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19

Konrad U. Förstner, Philipp H. Schiffer, Joseph M. Johnson, 2021, Immunity.

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype

W. Kress, B. Schoser, S. Rost, 2016, European Journal of Human Genetics.

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Hitesh Shah, D. Lessel, K. Girisha, 2016, BMC Medical Genetics.

Craniosynostosis syndromes: from genes to premature fusion of skull bones.

M. Muenke, U. Hehr, 1999, Molecular genetics and metabolism.

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons

F. Gage, U. Schlötzer-Schrehardt, J. Winkler, 2013, Human molecular genetics.

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.

A. Dufke, K. Mrasek, T. Liehr, 2008, International journal of molecular medicine.

Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7.

I. Hansmann, U. Hehr, M. Hagemann, 2000, American journal of medical genetics.

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

L. Hoefsloot, D. Wieczorek, A. Haeringen, 2011, Nature Genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

Präimplantationsdiagnostik und Polkörperdiagnostik / The current state of preimplantation genetic diagnosis and polar body diagnosis

U. Hehr, A. Hehr, B. Seifert, 2007 .

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints.

K. Mrasek, T. Liehr, R. Wegner, 2007, International journal of molecular medicine.

Doublet‐Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

S. Zuchner, C. Beetz, W. Emberger, 2017, Human mutation.

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

J. Winkler, G. Schuierer, B. Winner, 2004, Archives of neurology.

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

E. Zackai, J. Rommens, T. Wiltshire, 1999, Nature Genetics.

Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox

A. Jauch, C. Evers, H. Steinbeisser, 2014, Clinical genetics.

Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature

D. Wieczorek, D. Lohmann, A. Stein, 2012, European Journal of Pediatrics.

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

B. Hartmann, D. Wieczorek, T. Rosenbaum, 2013, European journal of medical genetics.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

W. Reardon, H. Brunner, A. Mégarbané, 2013, Orphanet Journal of Rare Diseases.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

A. Stein, F. Kaiser, H. Kölbel, 2020, Orphanet Journal of Rare Diseases.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

D. Wieczorek, D. Lohmann, J. Beygo, 2012, Molecular Syndromology.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

S. Kondo, S. Bale, M. Vikkula, 2009, Genetics in Medicine.

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

P. Bauer, Z. Kohl, G. Gillessen‐kaesbach, 2010, European Journal of Human Genetics.

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

D. Wieczorek, K. Sund, C. Lourenço, 2015, American journal of human genetics.

Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood

H. Lanfermann, F. Donnerstag, A. B. Tryc, 2019, Clinical Neuroradiology.

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

J. Winkler, U. Bogdahn, B. Winner, 2006, Neurology.

How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

A. Schäffler, A. Schmid, U. Hehr, 2016, European Thyroid Journal.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation

U. Sure, P. Dammann, U. Hehr, 2013, Neurosurgical Review.

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

J. Winkler, A. Das, T. Lücke, 2004, Neuropediatrics.

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.

B. Neubauer, A. Hahn, U. Hehr, 2004, Neuropediatrics.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation

S. Schneider, J. Winkler, U. Hehr, 2004, Journal of Neurology.

Generation of Highly Purified Human Cardiomyocytes from Peripheral Blood Mononuclear Cell-Derived Induced Pluripotent Stem Cells

C. Hengstenberg, M. Fischer, A. Baessler, 2015, PloS one.

POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.

G. Sedmak, M. Judas, M. Radoš, 2009, Neuropediatrics.

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

E. Ozer, U. Yiş, S. Kurul, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A cross section of autosomal recessive hereditary spastic paraplegias

Juergen Winkler, Ute Hehr, Sebahattin Cirak, 2005 .

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

I. Kurth, M. Elbracht, M. Begemann, 2018, Molecular genetics & genomic medicine.

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

P. Bauer, R. Heller, P. Ray, 2016 .

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

P. Bauer, R. Heller, P. Ray, 2016, Human mutation.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

F. Muntoni, E. Özer, S. Çırak, 2011, Neuromuscular Disorders.

Homozygote Deletion of Fukutin Gene (FKTN) Exon 3 Causes Dilated Cardiomyopathy and Mild Limb-Girdle Muscular Dystrophy without Brain Involvement

E. Wilichowski, U. Hehr, E. Hobbiebrunken, 2016 .

Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature

J. Epplen, S. Hoffjan, U. Hehr, 2015, Molecular Syndromology.

Genetic Assessment of Cortical Malformations

G. Schuierer, U. Hehr, 2011, Neuropediatrics.

LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs

M. Ensslen, G. Schuierer, I. Borggraefe, 2016, Brain and Development.

Familial cardiac valvulopathy due to filamin A mutation

D. Bernstein, L. Hudgins, J. Bernstein, 2011, American journal of medical genetics. Part A.

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

Broad Phenotypic Spectrum of A-Dystroglycanopathies due to POMT1 Mutations in 16 Families

U. Hehr, T. Geis, W. Müller-Felber, 2014 .

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

M. Lux, M. Beckmann, T. Fehm, 2018, Geburtshilfe und Frauenheilkunde.

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

P. Sieg, U. Hehr, A. Busche, 2016, American journal of medical genetics. Part A.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

S. Çırak, T. Voit, T. Willer, 2010, Neurology.

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.