Results 51 to 60 of about 3,804 (178)
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Diagnostics, 2021 Purpose: The demonstration of a rare case of bilateral diffuse uveal melanocytic proliferation (BDUMP) due to a lung carcinoma with unusual dermal lesions.
Michelle Prasuhn +5 more
doaj +1 more source
Ecology and Evolution, Volume 16, Issue 3, March 2026.Emerging infectious diseases increasingly threaten giant pandas and cohabiting species. This review analyzes pathogen transmission risks from domestic animals, wildlife, and vectors and proposes an integrated genomic surveillance framework for early warning and biodiversity conservation.
Xiaoli Sun +10 more
wiley +1 more source
Veterinary Ophthalmology, Volume 29, Issue 2, March 2026.ABSTRACT A 15‐week‐old Australian Labradoodle puppy was presented to The University of Queensland Small Animal Hospital for bilateral eyelid agenesis/coloboma and associated ocular complications. Enucleation of the left globe and repair of the right eyelid via a lip‐to‐lid transmucosal flap was performed. Given the subsequent development of prolapse of
Chi Hin Ng +4 more
wiley +1 more source
Prevalence of myocarditis and its contribution to the course of primary myocardial hypertrophy
Российский кардиологический журнал, 2023 Aim. To assess the incidence of myocarditis in patients with primary myocardial hypertrophy and to study its contribution to the disease course.Material and methods. The study included 100 patients with primary left ventricular myocardial hypertrophy, 52
Yu. A. Lutokhina +6 more
doaj +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Phosphatase-independent functions of SHP2 and its regulation by small molecule compounds
Journal of Pharmacological Sciences, 2020 SHP2 is a non-receptor protein tyrosine phosphatase encoded by the PTPN11 gene in human. Clinically, SHP2 has been identified as a causal factor of several diseases, such as Noonan syndrome, LEOPARD syndrome as well as myeloid malignancies. Interestingly,
Wenjie Guo, Qiang Xu
doaj +1 more source
Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
Clinical Case Reports, 2023 Key Clinical Message Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in PTPN11 gene.
Pamela Rivero‐García +2 more
doaj +1 more source
Ecology and Evolution, Volume 16, Issue 1, January 2026.We conducted presence/non‐detection sampling of the Critically Endangered northern white‐cheeked gibbon in Lao PDR. Occupancy was found to be a function of human usage of the site, distance from the nearest road, and the uninterruptedness of forest cover.
Jay White +3 more
wiley +1 more source
Dermatologic Manifestations of the LEOPARD Syndrome
, 2013 The LEOPARD syndrome is an exceptional autosomal dominant genetic disease with a missence mutation of the PTPN11 gene in more than 90% of the cases. The principal clinical manifestations include extensive lentiginosis, heart conduction abnormalities ...
CAO, Sandrine, NIKKELS, Arjen
core +1 more source