Results 201 to 210 of about 188,655 (392)

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Let's chat (GPT) about adolescent idiopathic scoliosis: accuracy and reliability of chat responses to frequently asked questions. [PDF]

BMC Musculoskelet Disord
Giray E, Korkmaz MD, Illeez OG, Capan N, Karadag Saygi E, Aydin AR.   +5 more
europepmc   +1 more source

Incidence of Neuromuscular Scoliosis and Pattern of Medical Institute Utilization by Patients: A Nationwide HIRA Big Data Analysis (The S-KO-IOSIS Study)

, 2019
Hyun Wook Chae, Hye Sun Lee, Sinae Kim, Ji-won Kwon, Byung Ho Lee   +4 more
openalex   +1 more source

Scoliosis

BMJ, 1956
openaire   +2 more sources

What\u27s new in spine surgery [PDF]

, 2005
Anderson, Paul A., Boden, Scott D., Bridwell, Keith H., Vaccaro, Alexander R., Wang, Jeffrey C.   +4 more
core   +7 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

Effect of Minimally Invasive Pectus Correction on Thoracic Spinal Alignment in Pectus Excavatum and Carinatum Patients: A Retrospective Cohort Study. [PDF]

Interdiscip Cardiovasc Thorac Surg
Aydemir S, Mutlu F, Akin E, Karci E, Karacam V, Akcali O.   +5 more
europepmc   +1 more source

Straightening the Facts: Early versus Late Adolescent Surgery in Idiopathic Scoliosis [PDF]

Ji Uk Choi, Choon Sung Lee, Dong‐Ho Lee, Jae Hwan Cho, Sehan Park, Mingeol Je, Chang Ju Hwang   +6 more
openalex   +1 more source

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

Assessing Public Awareness and Social Acceptance of Scoliosis Screening and Treatment Options in Saudi Arabia: A Nationwide Cross-Sectional Study. [PDF]

Healthcare (Basel)
Alsiddiky A, AlNahari AS, Alomrani AA, Alshobaki MB, Alateeq N, Almawash AN, Aldaijy ME, Alsuwaidan SE, Alqifari MK, Aldawsari MN, Alhomaidhi S.   +10 more
europepmc   +1 more source