Results 31 to 40 of about 264 (130)
Distinct and overlapping functions of ptpn11 genes in Zebrafish development. [PDF]
PLoS ONE, 2014 The PTPN11 (protein-tyrosine phosphatase, non-receptor type 11) gene encodes SHP2, a cytoplasmic PTP that is essential for vertebrate development. Mutations in PTPN11 are associated with Noonan and LEOPARD syndrome.
Monica Bonetti +6 more
doaj +1 more source
Noonan syndrome:
Molecular Genetics & Genomic Medicine, 2023 AbstractObjectiveTo analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment.MethodsWe collected clinical data from 8 children with Noonan syndrome diagnosed from November 2017 to June 2021.
Xian Wu +4 more
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A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy [PDF]
BMC Gastroenterology, 2020 Abstract Background Noonan syndrome is an autosomal dominant, variably expressed multisystem disorder characterized by specific facial and cardiac defects, delayed growth, ectodermal abnormalities, and lymphatic dysplasias.
Na Wang, Wen Shi, Yang Jiao
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Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2016 PurposeNoonan syndrome (NS) is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of recombinant human growth hormone (rhGH)
Insook Jeong +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2019 Background The RASopathies are a class of developmental disorders caused by germline mutations in the RAS-mitogen-activated protein kinase (MAPK) pathway.
Hao Chen +10 more
doaj +1 more source
BMC Medical Genomics, 2017 Background Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11 ...
Shanshan Xu +5 more
doaj +1 more source
Platelets, 2023 Essential thrombocythemia (ET) with double driver mutations is a rare disease. ET patients with both MPL and Type 1 CALR mutations have been reported.
Jing Wang +7 more
doaj +1 more source
Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome
Journal of the Formosan Medical Association, 2013 Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes
Mona L. Essawi +5 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer +4 more
wiley +1 more source
A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome
Clinical Pediatric Endocrinology, 2008 LEOPARD syndrome (LS) is a congenital developmental disorder and is an acronym for multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness (1).
Yoshida, Rie, Ogata, Tsutomu
openaire +3 more sources