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Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway
(WILEY-BLACKWELLHOBOKEN, 2012)
Noonan syndrome (NS) and Noonan-like syndromes (NLS) are autosomal dominant disorders caused by heterozygous mutations in genes of the RAS/MAPK pathway. The aim of the study was to construct specific growth charts for ...
Etiology and treatment of growth delay in noonan syndrome
(Frontiers Media, 2021)
Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. Longitudinal growth during childhood and adolescence depends ...
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
(Nature Publishing Group, 2009-04-01)
Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations ...
Síndrome de Noonan: do fenótipo à terapêutica com hormônio de crescimento
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
A síndrome de Noonan (SN) é uma síndrome genética comum que constitui importante diagnóstico diferencial em pacientes com baixa estatura, atraso puberal ou criptorquidia. A SN apresenta grande variabilidade fenotípica e é ...
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis
(WILEY-BLACKWELLMALDEN, 2012)
Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental ...
Behavioral disturbances in Noonan Syndrome: Brazilian preliminary data
(FOUNDATION ADVANCEMENT PSYCHOLOGY, 2010)
Different from other countries Of Europe and North American, studies about the behavioral profile of Noonan syndrome`s patients are inexistent. The objective of this study was to report the profiles of behavioral functions ...
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome
(De Gruyter, 2014)
Background: Noonan syndrome (NS) is an autosomal
dominant syndrome characterized by typical dysmorphic
features, cardiac anomalies as well as postnatal growth
retardation, and is associated with Ras-MAPK pathway
gene ...
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
(Wiley-Liss Inc., 2019)
We report the case of a 14 years and 8 months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, ...