Results 171 to 180 of about 83,265 (294)

Idiopathic scoliosis [PDF]

Annals of Translational Medicine, 2020
openaire   +2 more sources

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Current Knowledge of Respiratory Function in Early Onset Scoliosis and the Effect of Its Contemporary Surgical Treatment. [PDF]

J Clin Med
Balasubramanian SG, Fender D, Rushton P.
europepmc   +1 more source

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report [PDF]

Z. Chen, Xiaowei Chen, Xiyun Liang, Qiang Niu, Yauwai Chan, Xuebing Xu   +5 more
openalex   +1 more source

Adolescent Scoliosis [PDF]

BMJ, 1938
openaire   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

<i>ScolioClass</i>: data-driven development of a new classification tool to evaluate adolescent idiopathic scoliosis optically diagnosed. [PDF]

Front Digit Health
Ćuković S, Neghina M, Petruse RE, Luković V, Stojić D, Zou Y.   +5 more
europepmc   +1 more source

Scoliosis Round Table: What are Your Optimal Surgical Strategies for a Double Major Curve in Adolescent Idiopathic Scoliosis?

, 2020
Matthew E. Oetgen, Stuart L. Weinstein, Lindsay M. Andras, Suken A. Shah, Daniel J. Sucato   +4 more
openalex   +2 more sources

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Posterior Release Surgery Further Improves the Efficacy of Halo-Pelvic Traction in the Treatment of Patients With Severe Spinal Deformity. [PDF]

Cureus
Song P, Du C, Zhang Z, Liang YJ.
europepmc   +1 more source