Results 91 to 100 of about 1,239 (147)

Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia. [PDF]

J Bone Miner Res
Demuynck B, Shah BP, Mayeux F, Vasseur L, Barbault F, Ding J, Paull M, Reddi T, Muslimova E, Legeai-Mallet L.   +9 more
europepmc   +1 more source

Achondroplasia management in the era of targeted therapies: a meta-analysis of C-type natriuretic peptide analogs. [PDF]

J Endocr Soc
Kamrul-Hasan ABM, Uday S, Nagendra L, Dutta D, Bhattacharya S, Pappachan JM, Ashraf AP.   +6 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

O03: Vosoritide increases growth velocity in hypochondroplasia: Phase 2 trial results

Genetics in Medicine Open
Andrew Dauber, Anqing Zhang, Roopa Kanakatti Shankar, Kimberly Boucher, Tara McCarthy, Niusha Shafaei, Raheem Seaforth, Meryll Castro, Niti Dham, Nadia Merchant   +9 more
doaj   +1 more source

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Case Reports in Endocrinology, 2014
Manal Mustafa, Nabil Moghrabi, Bassam Bin-Abbas   +2 more
doaj   +1 more source

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases. [PDF]

Front Genet
Yu D, Feng D, Qu J, Nie L, Liu Q, Gao L, An W, Liu N, Fang Y.   +8 more
europepmc   +1 more source

A phase II basket trial of vosoritide in children with RASopathies, ACAN, and NPR2 deficiency.

J Clin Endocrinol Metab
Dauber A, Zhang A, Shafaei N, Seaforth R, Pitner K, Dham N, Kanakatti Shankar R, Merchant N.   +7 more
europepmc   +1 more source

Acanthosis Nigricans in Hypochondroplasia Due to <i>FGFR3</i> Mutation. [PDF]

JCEM Case Rep
Junkin JR, Ramirez V, Quintos JB.
europepmc   +1 more source

P368: Design of the ACCEL study: A prospective clinical assessment study in children with hypochondroplasia

Genetics in Medicine Open
Ravi Savarirayan, Andrew Dauber, Liza Bakunina, Elena Muslimova, Julie Hoover-Fong, Melita Irving   +5 more
doaj   +1 more source

Brachydactyly Type A1 Caused by an <i>IHH</i> Variant in a Patient with Disproportionate Short Stature: A Case Report. [PDF]

Reports (MDPI)
García de Pablo I, Ontoria Betancort MC, Martínez Bugallo F, Martín Pérez SE, Martín Pérez IM.   +4 more
europepmc   +1 more source