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chondro dysplasia-disorder of sex development相关文献:
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S.
PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May.
PMID:24784881
Emerging roles of Sox6 in the renal and cardiovascular system.
Saleem M, Barturen-Larrea P, Gomez JA.
Physiol Rep. 2020 Nov;8(22):e14604. doi: 10.14814/phy2.14604.
PMID:33230925
Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.
Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T.
Endocr J. 2013;60(12):1329-34. doi: 10.1507/endocrj.ej13-0334. Epub 2013 Oct 3.
PMID:24088663
Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases.
Holopainen E, Vakkilainen S, Mäkitie O.
J Pediatr Adolesc Gynecol. 2018 Aug;31(4):422-425. doi: 10.1016/j.jpag.2018.02.128. Epub 2018 Feb 17.
PMID:29462708
PRKX, a Novel cAMP-Dependent Protein Kinase Member, Plays an Important Role in Development.
Huang S, Li Q, Alberts I, Li X.
J Cell Biochem. 2016 Mar;117(3):566-73. doi: 10.1002/jcb.25304.
PMID:26252946
Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2.
Herrell S, Novo FJ, Charlton R, Affara NA.
Genomics. 1995 Jan 20;25(2):526-37. doi: 10.1016/0888-7543(95)80054-p.
PMID:7789987
An extended outbreak of congenital chondrodysplasia in calves in South East Australia.
Cave JG, McLaren PJ, Whittaker SJ, Rast L, Stephens A, Parker EM.
Aust Vet J. 2008 Apr;86(4):130-5. doi: 10.1111/j.1751-0813.2008.00266.x.
PMID:18363985
Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females.
Holopainen E, Vakkilainen S, Mäkitie O.
Am J Med Genet A. 2019 Feb;179(2):190-195. doi: 10.1002/ajmg.a.60684. Epub 2018 Dec 18.
PMID:30561899
Four New Patients of HHAT-Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review.
Arı ABD, Arı H, Türkyılmaz A, Teralı K, Büyükyılmaz G, Erdeve ŞS, Kılıç E.
Am J Med Genet A. 2025 May 6:e64107. doi: 10.1002/ajmg.a.64107. Online ahead of print.
PMID:40326711
New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.
Nivelon A, Nivelon JL, Mabille JP, Maroteaux P, Feldman JP, Douvier S, Aymé S.
Clin Dysmorphol. 1992 Oct;1(4):221-7.
PMID:1342874
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