List of works by Martin Zenker

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

scientific article published on 16 January 2018

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

scientific article published on 23 September 2014

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

scientific article

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

scientific article published on 29 October 2008

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

scientific article published in January 2007

A milder variant of Pierson syndrome.

scientific article published on 18 October 2007

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

scientific article published in April 2012

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

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

scientific article

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

article published in 2015

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

scientific article published on 04 October 2019

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

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

scientific article

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

scientific article

Adams-Oliver syndrome caused by mutations of the EOGT gene

scientific article published on 31 July 2019

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

scientific article published on 9 January 2007

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome

scientific article published on 2 July 2008

Aplasia cutis congenita in a CDC42-related developmental phenotype

scientific article published on 07 December 2020

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

scientific article published on 01 October 2020

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

scientific article published on 22 February 2018

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

scientific article

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

scientific article published on 29 May 2013

Biochemical and functional characterization of germ line KRAS mutations

scientific article published on 17 September 2007

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

scientific article published on 15 September 2012

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

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

scientific article published on 23 June 2017

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

scientific article

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

scientific article published on 01 October 2009

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

scientific article published on 02 June 2020

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

scientific article published on 7 February 2017

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

article published in 2018

Clinical and Molecular Findings of Tunisian Patients with RASopathies

scientific article

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

scientific article published on 10 January 2018

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

scientific article published in August 2008

Clinical and mutational spectrum of Mowat-Wilson syndrome.

scientific article published on 25 February 2005

Clinical utility gene card for: Johanson-Blizzard syndrome

scientific article published on 8 May 2013

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

scientific article published on 01 October 2004

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

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

scientific article published on 11 March 2015

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

scientific article published in May 2009

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

scientific article

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

scientific article published on 21 April 2015

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

scientific article published on 7 August 2015

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

scientific article

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

scientific article published on 8 July 2014

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

scientific article published on 01 September 2005

Developmental and metabolic disorders of the pancreas

scientific article

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

scientific article published in October 2006

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

scientific article

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

scientific article

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

scientific article

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

scientific article published on March 2016

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

Eponym: Johanson-Blizzard syndrome

scientific article published on 17 June 2010

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

scholarly article published in Nature Genetics

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

scientific article published on 24 June 2020

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

scientific article published on 31 July 2017

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

scientific article published on 20 October 2006

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

scientific article published on 19 March 2019

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

scientific article

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

scientific article published on 01 February 2007

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

scientific article published on 01 February 2008

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

scientific article

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

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

scientific article published on 17 January 2018

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

scientific article published on 17 January 2013

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

scientific article

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

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

scientific article

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

scientific article published on 14 August 2017

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome

scientific article

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

scientific article

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

scientific article published on August 2009

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

scientific article published in October 2009

Genotype and phenotype spectrum of NRAS germline variants

scientific article published on 3 May 2017

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia

Genotype-phenotype correlations in Noonan syndrome

scientific article published on March 2004

Germline KRAS mutations cause Noonan syndrome

scientific article

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

scientific article published on 9 December 2010

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

scientific article

Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

scientific article

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

scientific article

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

scientific article published on 5 December 2012

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

scientific article

Health and quality of life in adults with Noonan syndrome

scientific article published on 10 April 2012

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

scientific article

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

scientific article

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.

scientific article published on 22 February 2013

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

scientific article

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

scientific article

Identification of genetic loci associated with Helicobacter pylori serologic status

scientific article published in May 2013

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

Johanson-Blizzard syndrome

scientific article 2011

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

scientific article

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

scientific article

Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype

scientific article published on 20 September 2013

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

scientific article

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

scientific article

Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany.

scientific article published on 8 August 2008

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

scientific article published on 08 July 2015

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

scientific article published on 27 August 2020

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

scientific article

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

scientific article

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

scientific article published on 01 September 2009

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

scientific article published on 29 June 2007

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

scientific article published on 31 October 2015

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

scientific article

Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia

scientific article published on 01 November 2007

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

scientific article

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

scientific article published in January 2010

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

scientific article published on 3 October 2010

Mutations in GRIP1 cause Fraser syndrome

scientific article

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

scientific article published on 14 August 2017

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

scientific article published in June 2010

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

scientific article

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

scientific article published on 06 February 2017

Mutations in the human UBR1 gene and the associated phenotypic spectrum

scientific article published on 09 April 2014

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

scientific article

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

scientific article published on 5 April 2007

NEK1 mutations cause short-rib polydactyly syndrome type majewski

scientific article

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

scientific article published on 15 September 2020

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

scientific article published on 19 March 2007

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

scientific article (publication date: 4 September 2014)

Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome

scientific article published on 01 February 2007

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

scientific article

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

article

Noonan syndrome and clinically related disorders

scientific article

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

scientific article published on 4 May 2009

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

scientific article published on 19 January 2017

Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type

scientific article published in January 2013

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

scientific article published on 17 June 2010

Oblique facial clefts in Johanson-Blizzard syndrome

Ophthalmological aspects of Pierson syndrome

scientific article published on 31 July 2008

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

scientific article published on 09 September 2011

Phenotype and natural history in Marshall-Smith syndrome

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

scientific article published on 08 January 2012

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

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

scientific article published in January 2010

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

scientific article

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

scientific article

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

scientific article

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

scientific article published on 12 November 2014

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

scientific article

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.

scientific article published in October 2007

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

scientific article published on 08 October 2019

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

scientific article published on 23 June 2007

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

scientific article

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

scientific journal article

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

scientific journal article

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

scientific article published on 20 October 2020

The face of Noonan syndrome: Does phenotype predict genotype.

scientific article published in August 2010

The mosaic hedgehog spectrum: another lesson on the polymorphy of mosaicism

scientific article published on 08 September 2019

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.

scientific article published on 22 December 2017

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

scientific article published on 11 December 2019

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

scientific article

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

scientific article published in October 2002

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

scientific article published on 29 July 2010

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

scientific article published on 7 August 2012

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

scientific article published on 3 July 2015

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

scientific article

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene

scientific article published on 30 January 2020

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

scientific article

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

scientific article published on 12 December 2006

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

scientific article

Variable phenotype of Pierson syndrome

scientific article published on June 2008

Variants in nuclear factor I genes influence growth and development

scientific article published on 15 November 2019

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

scientific article published on 12 August 2020

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

scientific article

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

scientific article

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

scholarly article by Fereshteh Haghighi published in December 2018

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