Results 101 to 110 of about 31,197,963 (238)
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2454-2463, November 2026.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Building a precision therapeutics program at a tertiary care children's hospital
Pediatric Investigation, EarlyView.
Luke Hamilton +8 more
wiley +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2443-2453, November 2026.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
, 2001 Extensive retinal microvascular malformation involving both small and large retinal vessels. (Ref: BJO 2002:86, p282-284). Anatomy: Retina. Pathology: Retinal microvascular malformations. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
core
, 1987 LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
core +1 more source
Clinical Genetics, Volume 110, Issue 5, Page 527-537, November 2026.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome
Scientific ReportsMoyamoya vasculopathy secondary to various genetic disorders is classified as moyamoya syndrome (MMS). Recent studies indicate MMS occurs due to a combination of genetic modifiers and causative mutations for the primary genetic disorders.
Akikazu Nakamura +15 more
doaj +1 more source
Haematologica, 2014 RAS genes encode a family of 21 kDa proteins that are an essential hub for a number of survival, proliferation, differentiation and senescence pathways. Signaling of the RAS-GTPases through the RAF-MEK-ERK pathway, the first identified mitogen-associated
Charlotte M. Niemeyer
doaj +1 more source
Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]
, 2011 Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Barbara Goeggel Simonetti +13 more
core +2 more sources
Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea
Cell Biology International, Volume 50, Issue 10, October 2026.ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco +6 more
wiley +1 more source