Results 111 to 120 of about 66,813 (153)

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. [PDF]

Hum Mol Genet, 2018
Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P.   +14 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

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

Thanatophoric Dysplasia : Antenatal Diagnosis. [PDF]

Med J Armed Forces India, 2009
Sahu S, Kaur P.
europepmc   +1 more source

Prenatal Diagnosis of Thanatophoric Dysplasia Type I Based on Classical Ultrasound Findings During Anomaly Scan: A Case Report

Indian Journal of Radiology and Imaging
Rajat Garg, Rashmi Singh
doaj   +1 more source

Thanatophoric dysplasia type I: a rare case report at fetal autopsy.

J Lab Physicians, 2014
Davanageri RS, Shokeen PD, Bannur HB, Patil KP.   +3 more
europepmc   +1 more source

Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review. [PDF]

Obstet Gynecol Sci, 2014
Cho I, Shim JY, Kim GH, Yoo HW, Lee EJ, Won HS, Lee PR, Kim A.   +7 more
europepmc   +1 more source

P354: Vosoritide as a targeted therapy for FGFR3-related thanatophoric dysplasia

Genetics in Medicine Open
Benjamin Cocanougher, Rose Sharpe, Mariele Anneling, Brooke Baker, Nicole Panosh, Dmitriy Niyazov, Susan Izatt, Jennifer Cohen   +7 more
doaj   +1 more source

A fetal autopsy study on congenital malformations among stillbirths in a tertiary care hospital. [PDF]

Sci Rep
D N, N S, S P V, Patel M C S, R A S, G V M.   +5 more
europepmc   +1 more source