Results 41 to 50 of about 1,159 (180)

Molecular genetic testing of FGFR3 gene mutation in the differential diagnosis of achondroplasia and hypochondroplasia

, 2015
Aims. The differential diagnosis of achondroplasia and hypochondroplasia in Ukraine is based on the typical clinical and radiologic features that limits accurate diagnosis and leads to many false-positive diagnoses when checked against a complete ...
Дмитрук, І.М., Лялюк, О.В., Макух, Г.В., Тиркус, М.Я., Шуварська, В.І., Маркевич, Н.В.   +5 more
core   +2 more sources

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.
ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

Genotype phenotype correlation in achondroplasia and hypochondroplasia

, 1998
Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the
T. Kimura, N. Yasui, N. Tsumaki, Y. Matsui, T. Ochi, H. Kawabata   +5 more
core   +1 more source

Growth reference charts for children with hypochondroplasia [PDF]

, 2023
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population.
Cole, Trevor, McDonnell, Ciara, Bridges, Nicola, Hulse, Anthony, Burren, Christine P, Mohnike, Klaus, Skae, Mars, Irving, Melita, Sabir, Ataf, Cheung, Moira S, Cole, Tim J, Hagenäs, Lars, Davies, Justin Huw, Mason, Avril, Högler, Wolfgang, Arundel, Paul, Merker, Andrea, Warner, Justin, Rothenbuhler, Anya   +18 more
core  

Молекулярно-генетична діагностика мутацій гена FGFR3 при ахондроплазії та гіпохондроплазії

Фактори експериментальної еволюції організмів, 2015
Aims. The differential diagnosis of achondroplasia and hypochondroplasia in Ukraine is based on the typical clinical and radiologic features that limits accurate diagnosis and leads to many false-positive diagnoses when checked against a complete ...
І. М. Дмитрук, Г. В. Макух, М. Я. Тиркус, В. І. Шуварська, Н. В. Маркевич, О. В. Лялюк   +5 more
doaj  

Granulomatous cholangitis mimicking hilar cholangiocarcinoma: a case report

BMC Gastroenterology, 2020
Background Hilar biliary stricture caused by isolated fungal infections in immunocompetent patients are considered to be extremely rare and difficult to the diagnose from the outset.
Shigeru Fujisaki, Motoi Takashina, Ken-ichi Sakurai, Ryouichi Tomita, Tadatoshi Takayama   +4 more
doaj   +1 more source

Reference Values of Arm Span and Arm Span to Height Ratio of Japanese Population in Childhood and Adolescence: Comparison With Dutch and Turkish Population

American Journal of Human Biology, Volume 37, Issue 4, April 2025.
ABSTRACT Objectives To establish age‐specific reference values for the arm span and arm span/height ratio of the Japanese population in children and adolescence and elucidate their characteristics compared with those of other populations. Study Design We analyzed data from a national survey on the body sizes of Japanese people conducted between 1992 ...
Yasuhiro Hirano, Mikako Inokuchi, Satoshi Narumi, Tomonobu Hasegawa   +3 more
wiley   +1 more source

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

BMC Pediatrics, 2012
Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized.
Ros-Pérez Purificación, Regidor Francisco J, Colino Esmeralda, Martínez-Payo Cristina, Barroso Eva, Heath Karen E   +5 more
doaj   +1 more source

Uptake rates for non‐invasive prenatal screening for single‐gene disorders associated with advanced paternal age

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract This study sought to quantify uptake rates of non‐invasive prenatal screening for de novo single‐gene disorders (NIPS‐SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates.
Kylie Katz, Justin S. Brandt, Gary Heiman, Laurie Simone, Shama Khan, Pranali Shingala, Elena Ashkinadze   +6 more
wiley   +1 more source

Parental Somatic Mosaicism Detected During Prenatal Diagnosis

Prenatal Diagnosis, Volume 45, Issue 2, Page 171-177, February 2025.
ABSTRACT Objective Accurate recurrence risks are essential for genomic counselling and parental reproductive choices. Historically, Sanger sequencing was used to test parental samples, which has a limited sensitivity of ∼ 10% for detecting somatic mosaicism.
Natalie J. Chandler, Elizabeth Scotchman, Fiona McKay, Vijaya Ramachandran, Lyn S. Chitty   +4 more
wiley   +1 more source