Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
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Impact of MEK inhibition on childhood RASopathy-associated hypertrophic cardiomyopathy
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Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
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Genetic and epigenetic profiling for FSHD diagnosis by nanopore sequencing
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Non-coding variants in HK1 and hyperinsulinism - genotype-phenotype associations
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Die Pilzgemeinschaft im unteren gastrointestinal Tract bei eineiigen und zweieiigen Zwillingen
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Standardvorgehen für gemeinsame Datenelemente bei Gruppen seltener Erkrankungen am Beispiel von SYNGAP1 und RASopathien
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First description of a genetic variant in Semaphorin 7A in a case of intrahepatic cholestasis of pregnancy
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Bifidobacterium shapes antimicrobial T-cell responses during infancy and adulthood
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Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition
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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
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Differential methylation of OPRK1 in borderline personality disorder is associated with childhood trauma
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Epilepsy in cardiofaciocutaneous syndrome - clinical burden and response to anti-seizure medication
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Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia - genetic evidence of driver function and implications for diagnostic workup
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Krebserkrankungen bei Menschen mit einer Intelligenzminderung in Deutschland - Prävalenzen, Genetik und Versorgungslage - Cancer in people with an intellectual disability in Germany - prevalence, genetics, and care situation
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The 8th International RASopathies symposium - expanding research and care practice through global collaboration and advocacy
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RAS-MAPK pathway mutations in congenital pulmonary airway malformations
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Extracranial vascular anomalies ariven by RAS/MAPK variants - spectrum and genotype–phenotype correlations
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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
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Developmental effect of RASopathy mutations on neuronal network activity on a chip
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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Letter
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Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice
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Prediction of anastomotic insufficiency based on the mucosal microbiome prior to colorectal surgery - a proof-of-principle study
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
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Myhre syndrome in adulthood - clinical variability and emerging genotype-phenotype correlations
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Rasopathy-associated mutation Ptpn11D61Y has age-dependent effect on synaptic vesicle recycling
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Cancer in multilineage mosaic RASopathies due to pathogenic variants in HRAS or KRAS - a systematic review and meta-analysis
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Nerve enlargement in patients with Noonan syndrome - a retrospective cohort study
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Veränderungen des mukosalen Mikrobioms bei Patienten mit Anastomoseninsuffizienz nach Resektion von kolorektalen Karzinomen
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Systematische Analyse von microRNA als potenzielle Biomarker im Stuhl und ein neuer Ansatz zur endogenen miRNA-Normalisierung
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Further delineation of the phenotype of Noonan syndrome with loose anagen hair due to de novo missense variants in the PPP1CB gene
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Mikrobiomveränderungen in Gallengangsstents bei Patienten mit Gallengangserkrankungen
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Impact of the COVID-19 pandemic regulations on the health status and medical care of children with trisomy 21 - a parent survey in central Germany - Auswirkungen der COVID-19-Pandemie auf Gesundheitszustand und Versorgung von Kindern mit Trisomie 21 - eine Elternbefragung in Mitteldeutschland
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Congenital and inherited anomalies of the pancreas
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Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum - report of three cases
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Unusual phenotypes in patients with a pathogenic germline variant in DICER1
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C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
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Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy - validation of the HCM risk-kids model and predictors of events
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Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues
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Clinical outcome and quality of life of multimodal treatment of extracranial arteriovenous malformations - the APOLLON study protocol
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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
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X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant
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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
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Editorial - endocrine aspects of Noonan syndrome and related syndromes
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In-vitro-Modellierung der Noonan-Syndrom-assoziierten Kardiomyopathie - Neue Einblicke in die myokardiale Pathophysiologie und Effekte der Inhibition des hyperaktiven RAS/MAPK-Signalwegs - In vitro modeling of Noonan syndrome-associated cardiomyopathy - new insights into the myocardial pathophysiology and effects of inhibition of the hyperactive RAS/MAPK signaling pathway
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Improvement of synaptic plasticity and cognitive function in RASopathies - a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS)
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Adrenocortical carcinoma (ACC) in an infant with Cushing's syndrome and virilization
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Staphylococcus aureus and Bifidobacterium longum are well recognized by T-cells with opposite results
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Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndrome
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AKT/mTOR and MAPK inhibition improves childhood RASopathic cardiomyopathy
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Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome
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Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism
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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
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Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
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Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype - a multinational cohort study
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T cell-specific constitutive active SHP2 enhances T cell memory formation and reduces T cell activation
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Unusual findings in a patient with Carney complex due to a novel PRKAR1A mutation
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Gut microbial similarity in twins is driven by shared environment and aging
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Recurrent mandibular giant cell lesion in neurofibromatosis type 1 - second hit mutation on the NF1 gene in the osseous lesion
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Profiling of the bacterial microbiota along the murine alimentary tract
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WARS1 and SARS1 - two tRNA synthetases implicated in autosomal recessive microcephaly
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Fatal course of a benign mediastinal lipoblastoma in a 20-year-old woman
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The seventh international RASopathies symposium - pathways to a cureexpanding knowledge, enhancing research, and therapeutic discovery
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Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
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Correlation of PET-MRI, pathology, LOH, and surgical success in a case of CHI with atypical large pancreatic focus
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Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos
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Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
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A case report - first long-term treatment with burosumab in a patient with cutaneous-skeletal hypophosphatemia syndrome
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Oral HRAS mutation in orofacial nevus sebaceous syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome) - a case report with a literature survey
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Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model
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European Medical Education Initiative on Noonan syndrome - A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
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Noonan syndrome - improving recognition and diagnosis
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Clinical overview on RASopathies
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Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome - clinical presentation and associations with genotype
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Outcomes in growth hormone-treated Noonan syndrome children - impact of PTPN11 mutation status
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Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe - a sub-analysis of a European clinical practice survey
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Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
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Cardiac electrophysiological anomalies associated with a Noonan syndrome mutation in RAF1 can be rescued partially in vitro by inhibition of RAS/MAPK signaling pathway
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Opposing effects of Bifidobacterium longum and Staphylococcus aureus after recognition by paediatric T cells
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Noonan syndrome patients with short stature at a single pediatric endocrinology centre
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The functional effects of the Rasopathy-related KRASV14l mutation in the brain
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MEK-inhibition treatment with trametinib in a 7.7-year-old girl with Noonan's syndrome and life-threatening lymphangiopathy
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Noonan syndrome-associated hypertrophic cardiomyopathy caused by a mutation in RIT1 can be partially rescued by inhibition of RAS/MAPK signaling pathway in vitro
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Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations
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Neurofibromatosis type 1 with cherubism-like phenotype, multiple osteolytic bone lesions of lower extremities, and Alagille-syndrome - case report with literature survey
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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
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KRAS mutation in an implant-associated peripheral giant cell granuloma of the jaw - implications of genetic analysis of the lesion for treatment concept and surveillance
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Estimated prevalence of harmful alcohol consumption in pregnant and nonpregnant women in Saxony-Anhalt (NorthEast Germany) using biomarkers
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QRICH1 variants in Ververi-Brady syndrome - delineation of the genotypic and phenotypic spectrum
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
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Aplasia cutis congenita in a CDC42-related developmental phenotype
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Eye tumors in childhood as first sign of tumor predisposition syndromes - insights from an observational study conducted in Germany and Austria
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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
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Mutations in PRDM15 are a novel cause of Galloway-Mowat syndrome
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Galloway-Mowat syndrome - new insights from bioinformatics and expression during Xenopus embryogenesis
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Characterization of the modulatory role of LZTR1 in the control of RAS-MAPK signaling
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Modelling Johanson-Blizzard syndrome in a dish
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Identification of a germline interstitial deletion in 14q32.13 in a child and mother with DICER1 syndrome
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Hereditäre Nephropathien
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Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
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Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation
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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
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The mosaic hedgehog spectrum - another lesson on the polymorphy of mosaicism
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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome - phenotype comparison in two related syndromes
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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
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Long-term culture of EBV-induced human lymphoblastoid cell lines reveals chromosomal instability
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Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum
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Mosaic neurofibromatosis type 1 with multiple cutaneous diffuse and plexiform neurofibromas of the lower leg
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Systematized naevoid hypertrichosis may herald HappleTinschert syndrome. Letter to the editor
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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
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The sixth international RASopathies symposium - precision medicine : from promise to practice
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KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
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Pathogenic PTPN11 variants involving the polyglutamine Gln255-Gln256-Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation
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Scientific yield of clinical exome sequencing of neurodevelopmental disorders
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Unravelling the genetic architecture in an extensive cohort of Adams-Oliver syndrome patients
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[18]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
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Identification of novel candidate genes for idiopathic short stature using whole exome sequencing
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Rare diagnosis of autosomal-recessive Pitt-Hopkins-like syndrome 2 by microarray-analysis
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Clinical and molecular analysis of RASopathies in a group of Turkish patients
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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
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Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
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Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1
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Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D
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Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: A clinical, molecular, and immunohistochemical approach
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Oligohydramnios associated with sonographically normal kidneys
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Health and quality of life in adults with Noonan syndrome
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Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
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Neonatal progeria - increased ratio of progerin to lamin A leads to progeria of the newborn
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NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome
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Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR
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A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype
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Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
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MOTA Syndrome: Molecular genetic confirmation of the diagnosis in a newborn with previously unreported clinical features
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Infantile nephrotic syndrome with microcephaly and global developmental delay: The Galloway Mowat Syndrome
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Mutations in GRIP1 cause Fraser syndrome
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Bleeding diathesis in Noonan syndrome: Is acquired von Willebrand syndrome the clue?
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A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development
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Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome
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Noonan syndrome and clinically related disorders
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Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
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Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
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Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
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Eponym - Johanson-Blizzard syndrome
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
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Johanson-Blizzard syndrome
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NEK1 mutations cause short-rib polydactyly syndrome type Majewski
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Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
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Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndromelike phenotype and hyperactivated MAPK signaling in humans and mice
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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
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Le syndrome de Pierson, Michel Pierson
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Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
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Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling
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Vom Noonan-Syndrom bis zur Neurofibromatose - Erkrankungen des RAS-MAPK-Signalweges
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Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectrum
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Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility
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Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
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Phenotype and natural history in Marshall-Smith syndrome
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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
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A restricted spectrum of NRAS mutations causes Noonan syndrome
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
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Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Correspondence
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The face of Noonan syndrome: does phenotype predict genotype
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Neuro-kardio-fazio-kutane Syndrome - überlappende Phänotypen mit gemeinsamem molekularem Signalweg - interdisziplinäres Betreuungskonzept
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Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
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Futher clinical and molecular delineation of the 9q Subtelomeric Deletion _Syndrome syports a major contributation of EHMT1 haploinsufficiency to the core phenotype.
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Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
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Genomic duplikation of PTPN11 is an uncommon cause of Noonan syndrome.
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Craniosynostosis in patient with Noonan syndrome caused by germline KRAS mutation.
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Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
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Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report.
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
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Multiple giant cell lesions in patient with Noonan syndrome and cardio-facio-cutaneous syndrome
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Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
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Infantile hypophosphatasie due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
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Genetic and pathogenetic aspects of Noonan syndrome and related disorders
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The spectra of clinical phenotypes in aplasia curtis congentia and terminal transverse limb defects.
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Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrom.
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A restricted spectrum of NRAS mutations causes Noonan Syndrome.
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SMARCAL1 mutation; A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
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