Results 141 to 150 of about 83,265 (294)

Association of physical activity and sedentary time with scoliosis screening positive in Chinese primary and secondary school students: a cohort study in Shanghai [PDF]

Liting Chu, Dongling Yang, Fengyun Zhang, Wenjuan Qi, Yu-Ting Huang, Yanting Yang, Shuangxiao Qu, Shenglei Huang, Keyang Zheng, Chunyan Luo   +9 more
openalex   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Comments to “Utility of Patient-Specific Rod Instrumentation in Deformity Correction: Single Institution Experience”By Sadrameli et al.

Spine Surgery and Related Research, 2021
Federico Solla, Cédric Y. Barrey, Viriginie Rampal, Vincent Fière   +3 more
doaj   +1 more source

Pedicle Hounsfield Unit Threshold for Predicting Screw Malposition İn Idiopathic and Degenerative Scoliosis Surgery. [PDF]

Global Spine J
Karaoglu Gundogdu D, Sahinoglu M, Harman F, Koktekir E, Karabagli H, Arslan SU, Özyücel FM, Ozkeles EY, Sirin MS, Rustamli N.   +9 more
europepmc   +1 more source

Validation of smartphone inclinometer tools for measuring rib hump in scoliosis patients [PDF]

, 2015
Angela Guardia, Muhammad Imran Khan, Andreas Donauer, Kajsa Duke   +3 more
openalex   +1 more source

The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss

, 2021
Atsushi Murata
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Congenital Scoliosis [PDF]

Proceedings of the Royal Society of Medicine, 1930
openaire   +2 more sources

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot‐Marie‐Tooth Disease: Case Report From South America

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Biallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot‐Marie‐Tooth disease type C (CMT). No South American cases have been previously reported.
Rafael Oliveira Vidon, Pedro José Tomaselli, Caroline Bittar‐Braune, Izabela Jardim Pitta, Glenda Corrêa Borges de Lacerda, Márcia Jardim   +5 more
wiley   +1 more source

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

, 2019
Brooke Sadler, Gabe Haller, Lilian Antunes, Xavier Bledsoe, José A. Morcuende, Philip F. Giampietro, Cathleen Raggio, Nancy H. Miller, Yared H. Kidane, Carol A. Wise, Ina Amarillo, Nephi Walton, Mark A. Seeley, Darren Johnson, Conner Jenkins, T Jenkins, Matthew T. Oetjens, R. Spencer Tong, Todd E. Druley, Matthew B. Dobbs, Christina A. Gurnett   +20 more
openalex   +2 more sources