Results 81 to 90 of about 24,558 (240)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Type 1 Neurofibromatosis Gene: Correction [PDF]
Science, 1990 Margaret R. Wallace +3 more
openaire +2 more sources
Telomere erosion in NF1 tumorigenesis [PDF]
, 2017 Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion.
Baird, Duncan +4 more
core +2 more sources
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1
The Turkish Journal of Pediatrics, 2011 Neurofibromatosis type 1 (NF1) is an autosomal dominant disease where phenotypic heterogeneity is explained by the effect of modifier genes. Thirty to 65% of patients have learning disability.
Yunus Kasim Terzi +4 more
doaj
Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1
Бюллетень сибирской медицины, 2010 To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade ...
A. M. Zaidman +4 more
doaj +1 more source
Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases
Pediatric Investigation, EarlyView.Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang +3 more
wiley +1 more source
Orthopedic Research and Reviews, 2023 Vivian Reinhold,1 Antti Saarinen,2 Eetu Suominen,2 Stina Syrjänen,3,4 Minna Kankuri-Tammilehto1,5 1Institute of Biomedicine, University of Turku, Turku, Finland; 2Department of Paediatric Orthopaedic Surgery, University of Turku and Turku University ...
Reinhold V +4 more
doaj
Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia [PDF]
, 2008 Cataloged from PDF version of article.Heterozygous germ-line variants of DNA mismatch repair (MMR) genes predispose individuals to hereditary non-polyposis colorectal cancer.
Alotaibi, H. +2 more
core +2 more sources
PM&R, EarlyView.Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager +4 more
wiley +1 more source