Results 81 to 90 of about 39,192 (197)
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
Journal of Medical Case Reports, 2019 Background Neurofibromatosis type 1 has a higher prevalence of pheochromocytoma and paraganglioma than the general population: 1.0–5.7% versus 0.2–0.6%.
Juan Wang +3 more
doaj +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
Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study
Oral Diseases, EarlyView.ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna +6 more
wiley +1 more source
A large multilobulated cutaneous nodule in infancy
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Hannah Wahida +2 more
wiley +1 more source
Loose Anagen Hair Syndrome: A Scoping Review
Pediatric Dermatology, EarlyView.ABSTRACT Loose anagen hair syndrome (LAHS) is a rare, non‐scarring alopecia that may occur sporadically or follow autosomal dominant inheritance. The objective of this study was to review the etiology, clinical presentation, diagnostic features (including trichoscopy, trichogram, and microscopy), natural history, and treatment outcomes of LAHS.
Romy Shenderey +12 more
wiley +1 more source
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
Neurofibromatosis type 1: Surgical Perspectives
The Annals of African Surgery, 2011 Introduction: Neurofibromatosis type 1 (NF1) affects about 1 in 3000 people. The indications for surgical intervention in patients with NF1 are not always clear-cut.
Nthumba PM, MMed(Surg),FCS(ECSA), Plastic Surgery Fellowship +1 more
doaj
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