Results 81 to 90 of about 1,239 (147)

Growth disorders analysis in hypochondroplasia mouse model and its therapeutic approaches

, 2020
L'hypochondroplasie (HCH) est un nanisme rhizomélique caractérisé par un raccourcissement des membres, une lordose lombaire et des troubles cognitifs avec des anomalies de l'hippocampe et une dysgénésie des lobes frontaux.
Loisay, Léa
core  

New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant

Arquivos de Neuro-Psiquiatria, 2021
Paula Maria Preto Mimura, José Thiago de Souza de Castro, Vinicius de Menezes Jarry, Marcondes Cavalcanti França Júnior, Fabiano Reis   +4 more
doaj   +1 more source

Metacarpophalangeal pattern profile analysis in hypochondroplasia, dyschondrosteosis and Turner syndrome [Elektronisk resurs]

, 2004
The skeletal system, including the hand skeleton, is affected by a large number of skeletal dysplasias. Clinical and radiological abnormalities of the skeletal system in hypochondroplasia (HCP), dyschondrosteosis (LWD) and Turner syndrome (TS) may be ...
Laurencikas, E,
core  

Diagnostic guide to hypochondroplasia. [PDF]

Clin Pediatr Endocrinol
Kubota T, Nishimura G, Kitoh H, Ohata Y, Isojima T, Okada K, Dateki S, Hasegawa K, Fujiwara I, Matsushita M, Namba N, Ozono K, Michigami T.   +12 more
europepmc   +1 more source

Response to letter to the editor for "Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia". [PDF]

J Bone Miner Res
Legeai-Mallet L, Shah BP.
europepmc   +1 more source

Navepegritide: First Approval. [PDF]

Drugs
Kang C.
europepmc   +1 more source

Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia

, 2008
　　 Achondroplasia and hypochondroplasia are common types of dwarfism in the Chinese population (Hwu and Wang, 1991). Rcently, a mutation (G1138A) in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) gene was found in most of the ...
WANG, TSO-REN;WANG, WEN-PING;HWU, WUH-LIANG;LEE, MING-LIANG, 王作仁;王文炳;胡務亮;李明亮   +1 more
core  

Navepegritide in children with achondroplasia. [PDF]

Transl Pediatr
Semler O, Hoyer-Kuhn H.
europepmc   +1 more source

Idiopathic short stature in the genomic era: a focused narrative review of genotype-phenotype correlation, selective neuroimaging, IGF-1 biology, and growth hormone responsiveness. [PDF]

Clin Pediatr Endocrinol
Soliman A, Alyafei F, Elawwa A, Alaaraj N, Hamed N, Mohamed S.   +5 more
europepmc   +1 more source

Severity of Prenatal Femur Length Shortening Predicts Postnatal Diagnosis: Experience From a Japanese Tertiary Perinatal Center. [PDF]

Congenit Anom (Kyoto)
Matsui S, Iwatani S, Yoshimoto S.
europepmc   +1 more source