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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

A milder variant of Pierson syndrome.

artículo científico publicado en 2007

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

artículo científico publicado en 2012

A restricted spectrum of NRAS mutations causes Noonan syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Adams-Oliver syndrome caused by mutations of the EOGT gene

artículo científico publicado en 2019

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

Aplasia cutis congenita in a CDC42-related developmental phenotype

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Biochemical and functional characterization of germ line KRAS mutations

artículo científico publicado en 2007

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

artículo científico publicado en 2012

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2017

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

article published in 2018

Clinical and Molecular Findings of Tunisian Patients with RASopathies

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

Clinical and mutational spectrum of Mowat-Wilson syndrome.

artículo científico publicado en 2005

Clinical utility gene card for: Johanson-Blizzard syndrome

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

Eponym: Johanson-Blizzard syndrome

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Genotype and phenotype spectrum of NRAS germline variants

artículo científico publicado en 2017

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia

Genotype-phenotype correlations in Noonan syndrome

artículo científico publicado en 2004

Germline KRAS mutations cause Noonan syndrome

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Health and quality of life in adults with Noonan syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Identification of genetic loci associated with Helicobacter pylori serologic status

artículo científico publicado en 2013

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

Johanson-Blizzard syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Mutations in GRIP1 cause Fraser syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Mutations in the human UBR1 gene and the associated phenotypic spectrum

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

NEK1 mutations cause short-rib polydactyly syndrome type majewski

artículo científico publicado en 2011

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).

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

article

Noonan syndrome and clinically related disorders

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Oblique facial clefts in Johanson-Blizzard syndrome

Ophthalmological aspects of Pierson syndrome

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2010

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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.

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

The face of Noonan syndrome: Does phenotype predict genotype.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Variable phenotype of Pierson syndrome

artículo científico

Variants in nuclear factor I genes influence growth and development

artículo científico publicado en 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

artículo científico publicado en 2015

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

artículo científico publicado en 2017

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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