Results 241 to 250 of about 135,318 (359)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Does adult lumbar scoliosis affect spine T-score accuracy in osteoporosis diagnosis?-a cross-sectional study of adults aged 50 years and older. [PDF]

J Spine Surg
Liu G, Sim SI, Neo BXB, Huak CY, Hee-Kit W, Tan JH.   +5 more
europepmc   +1 more source

Early-Onset Scoliosis: A Review of History, Current Treatment, and Future Directions

Pediatrics, 2016
Scott Yang, L. Andras, G. Redding, D. Skaggs   +3 more
semanticscholar   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Effects of intermittent corticosteroids on scoliosis, bone density, and vertebral fractures in duchenne muscular dystrophy. [PDF]

J Neuromuscul Dis
Ikelaar NA, Blok LSM, Stoop MHP, Krom YD, Bongers J, Dibbets-Schneider P, van Zwet EW, de Witte PB, Niks EH.   +8 more
europepmc   +1 more source

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Clinical and radiological outcomes of hybrid technique in the management of AIS with double major curves with more than 5 years follow up

Brain and Spine
K. Emre, Y. Bilge Kagan, B. Peker, H. Mraja, U. Yuzuguldu, H. Gok, A. Sepehr, O.L. Ulusoy, T. Sanli, S. Karadereler, M. Enercan, A. Hamzaoglu   +11 more
doaj   +1 more source

Spinal deformities and the "Goel instability concept". [PDF]

J Craniovertebr Junction Spine
Goel A.
europepmc   +1 more source

A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A heterozygous de novo GABBR2 variant was identified in a girl with clinical classical Rett syndrome. Comparison with previously reported cases suggests that GABBR2 variants should be considered in the genetic evaluation of individuals with MECP2‐negative Rett syndrome.
Jenny Klintenstedt, Peter Baeck, Ingegerd Witt Engerström, Cecilia Gunnarsson   +3 more
wiley   +1 more source

Casting, bracing and surgery: A comparative review of treatment approaches for early onset scoliosis. [PDF]

J Clin Orthop Trauma
Gaume M, Richard L, Davaine L, Thouement C, de Saint Denis T, Vialle R.   +5 more
europepmc   +1 more source