Results 111 to 120 of about 1,602 (170)

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review. [PDF]

Int J Mol Sci
Robles-Espinoza K, Esparza-García E, González García JR, Magaña-Torres MT.   +3 more
europepmc   +1 more source

Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies. [PDF]

Int J Mol Sci
Dietmar HF, Dennis EP, Johnson de Sousa Brito FM, Reynard LN, Young DA, Briggs MD.   +5 more
europepmc   +1 more source

Phenotype Variations in a Family with Various Rearrangements in the Locus of the <i>SHOX</i> Gene. [PDF]

Int J Mol Sci
Beskorovainaya TS, Markova TV, Polyakov AV, Shchagina OA, Kenis VM.   +4 more
europepmc   +1 more source

Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports. [PDF]

Prenat Diagn
Larissa LR, Felipe LL, Salvador JC, Manuel GJ, Jose RM, Angelica CD, Alejandra DCK, Lucia YA, Valeria MD, Jesús BH, Rosalba SM.   +10 more
europepmc   +1 more source

Live birth prevalence of major congenital anomalies in the United Arab Emirates. [PDF]

Sci Rep
Adam H, Ghenimi N, Narchi H, Ahmad A, Al Hajeri OM, Elbarazi I, Al-Rifai RH, Ahmed LA.   +7 more
europepmc   +1 more source

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients. [PDF]

Genes (Basel)
Taner HE, Uludağ Alkaya D, Kalyoncu Uçar A, Şeker A, Centel T, Yıldırım T, Güneş N, Tüysüz B.   +7 more
europepmc   +1 more source

From genotype to phenotype: the impact of early management in pycnodysostosis. [PDF]

Endocrinol Diabetes Metab Case Rep
Von Zuben PRGDS, de Sousa SZ, Figueiredo CC, de Araújo Evangelista NM, Fernandes VT, Salmona P, Colares Neto GP.   +6 more
europepmc   +1 more source

Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias

, 2017
Brunoni, Decio, Lederman, Henrique Manoel, Cernach, Mirlene Cecilia S. Pinho, Galera, Marcial Francis, Patricio, Francy Reis da S.   +4 more
core  

The Lethal Osteochondrodysplasias

, 1990
Achondrogenesis was first described in 1936 by Parenti (1936). Lethal cases of osteogenesis imperfecta have been known since Vrolik’s (1849) description. Achondroplasia (formerly chondrodystrophy) was the only other diagnosis for all other dwarfed newborns until thanatophoric dysplasia was recognized as a separate entity (Maroteaux et al., 1967).
Jürgen Spranger, Pierre Maroteaux, P Maroteaux   +2 more
exaly   +4 more sources

The Genetic Basis of the Osteochondrodysplasias

Journal of Pediatric Orthopaedics, 2000
The osteochondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth and remodeling of cartilage and bone, affecting from 2 to 4.7 per 10,000 individuals. Most osteochondrodysplasias are heritable and many have elaborate patterns of genetic transmission.
A C, Baitner, S G, Maurer, M B, Gruen, P E, Di Cesare   +3 more
exaly   +4 more sources