Results 181 to 190 of about 10,063 (203)

Atypical achondroplasia

American Journal of Medical Genetics, 1997
openaire   +2 more sources

Achondroplasia.

2023
Cynthia A. Riccio, Anita Sohn McCormick
openaire   +1 more source

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Nature, 1994
Laurence Legeai-Mallet, Jean-Michel Rozet   +1 more
exaly  

The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*

Endocrine Reviews, 2000
Zoltan Vajo
exaly  

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Cell, 1994
Leslie M Thompson
exaly  

Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway

Nature Medicine, 2003
Akihiro Yasoda, Michio Suda
exaly  

Achondroplasia

Developmental Medicine & Child Neurology, 1983
openaire   +1 more source

First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

Lancet, The, 1994
Clair A Francomano
exaly  

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

American Journal of Human Genetics, 1998
John Loughlin
exaly  

Achondroplasia.

Proceedings of the Royal Society of Medicine, 2010
openaire   +3 more sources