Results 91 to 100 of about 10,063 (203)

Achondroplasia [PDF]

BMJ, 1906
G, Rankin, E C, Mackay
openaire   +3 more sources

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene

The Turkish Journal of Pediatrics, 2003
Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of ...
Sacide Pehlivan, Ferda Ozkinay, Ozlem Okutman, Ozgür Coğulu, Ali Ozcan, Tufan Cankaya, Ayfer Ulgenalp   +6 more
doaj  

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia

BMC Musculoskeletal Disorders, 2018
Background Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients.
Mi Hyun Song, Tae-Jin Lee, Jong Hyeop Song, Hae-Ryong Song   +3 more
doaj   +1 more source

Achondroplasia: Current concept of orthopaedic management

Journal of Children's Orthopaedics
Achondroplasia, the most common form of inherited disproportionate short stature, is caused by mutations in the fibroblast growth factor receptor 3 gene.
Gabriel T Mindler, Alexandra Stauffer, Catharina Chiari, Kiril Mladenov, Joachim Horn   +4 more
doaj   +1 more source

Alargamientos de los miembros en las hipometrías simétricas [PDF]

, 1992
En este grupo de alteraciones se incluyen aquellas situaciones en que uno o varios segmentos óseos homólogos de las extremidades son igualmente cortos y está constituido fundamentalmente por los enanismos.
Pablos Fernández, Julio de
core  

Successful obstetric and anesthetic management using fluoroscopic-guided epidural anesthesia for cesarean section in a patient with achondroplasia: A case report

Taiwanese Journal of Obstetrics & Gynecology
Objective: Achondroplasia is a skeletal disorder characterized by shortened limbs and short stature. Pregnancy in women with achondroplasia requires individualized management due to its distinctive physical characteristics.
Saeko Ishioka, Tasuku Mariya, Natsumi Kii, Motonobu Kimizuka, Masayuki Someya, Tsuyoshi Saito   +5 more
doaj   +1 more source

Dysplasies osseuses héréditaires et voies de signalisation associées aux récepteurs FGFR3 et PTHR1 [PDF]

, 2005
La croissance des os longs se fait selon un processus complexe impliquant la migration et la condensation de cellules mésenchymateuses en cellules chondrogéniques qui se différencient en chondrocytes produisant la matrice cartilagineuse pour former la ...
Bonaventure, Jacky, Silve, Caroline
core   +1 more source

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America

Genetics in Medicine Open
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden.
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano   +17 more
doaj   +1 more source

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data. [PDF]

, 2015
Autozygosity mapping is a powerful technique for the identification of rare, autosomal recessive, disease-causing genes. The ease with which this category of disease gene can be identified has greatly increased through the availability of genome-wide SNP
Alkuraya, Bellus, Blue, Carr, Carr, Carr, Carr, Görmez, Lander, Li, Li, Matilainen, McKenna, Mueller, Pagnamenta, Pruitt, Pruitt, Seelow, Watson   +18 more
core   +1 more source

Circulating bone biomarkers as indicators of growth in children with achondroplasia

Endocrine and Metabolic Science
Achondroplasia is a hereditary condition caused by a mutation in the FGFR3 receptor leading to impaired growth in children.In a longitudinal study we followed the growth of children with achondroplasia aged from two to fourteen years with regular blood ...
G. Rignol, K. Roberts, A. Slade, C. Czech, M. Ljungberg   +4 more
doaj   +1 more source