Results 71 to 80 of about 12,084,964 (131)

Type I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report. [PDF]

Cureus
Mesbah K, Ettoini K, Khabbach K, El Boussaadni Y, Oulmaati A.   +4 more
europepmc   +1 more source

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. [PDF]

J Bone Miner Res
Webb RF, McCurry H, Girod A, Hughes M, Wilcox E, Patel M, Broeren EC, Tshering KC, DiStefano M, Botto LD, Burrage LC, Cormier-Daire V, Dong J, Ehmke N, Krakow D, Moosa S, Mortier G, Nagamani S, Pena L, Sanchez-Lara PA, Superti-Furga A, Unger S, Velasco D, Warman ML, Brown K, D'Cunha Burkardt D, Ferreira CR, ClinGen Skeletal Disorders Gene Curation Expert Panel.   +27 more
europepmc   +1 more source

A Case of Short-Rib Thoracic Dysplasia: Diagnostic Clues in Early Pregnancy and Genetic Analysis. [PDF]

J Clin Ultrasound
Li C, Kang X, Tao J, Yang X, Liu C, Song X, Lin X.   +6 more
europepmc   +1 more source

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

Neonatal osteogenesis imperfecta revealed by antenatal fractures: A case report. [PDF]

Radiol Case Rep
El Messari C, Ayad A, Sellouti M, Saghir S, Abilkassem R.   +4 more
europepmc   +1 more source

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source

Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. [PDF]

Cell Signal, 2008
Guo C, Degnin CR, Laederich MB, Lunstrum GP, Holden P, Bihlmaier J, Krakow D, Cho YJ, Horton WA.   +8 more
europepmc   +1 more source

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework. [PDF]

Genet Med
Edoh EYA, Mighton C, Broeren EC, Gitau VN, Ratliff J, DiStefano MT, Gadalla S, Girod A, Hughes MY, McCurry H, Patel MJ, Wilcox EH, Mohammadi M, Paschal CR, Spector E, Wilkie AOM, Zackai E, Zarate YA, Graham JM, Jabs EW, Sanchez-Lara PA, ClinGen Craniofacial Malformations Gene Curation Expert Panel.   +21 more
europepmc   +1 more source

Editorial on Genomic Mosaicism in Human Development and Diseases. [PDF]

Genes (Basel)
Xi X, Yang X.
europepmc   +1 more source

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis. [PDF]

Case Rep Pediatr, 2022
Audu L, Gambo A, Baduku TS, Farouk B, Yahaya A, Jacob K.   +5 more
europepmc   +1 more source