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sex chromosome dysplasia相关文献:
Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.
Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K.
Eur J Med Genet. 2021 Nov;64(11):104332. doi: 10.1016/j.ejmg.2021.104332. Epub 2021 Sep 2.
PMID:34481091
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.
Ninomiya S, Isomura M, Narahara K, Seino Y, Nakamura Y.
Hum Mol Genet. 1996 Jan;5(1):69-72. doi: 10.1093/hmg/5.1.69.
PMID:8789441
Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.
Schafer AJ, Foster JW, Kwok C, Weller PA, Guioli S, Goodfellow PN.
Ann N Y Acad Sci. 1996 Jun 8;785:137-49. doi: 10.1111/j.1749-6632.1996.tb56252.x.
PMID:8702120
Sex linked valvular dysplasia.
Newbury-Ecob RA, Zuccollo JM, Rutter N, Young ID.
J Med Genet. 1993 Oct;30(10):873-4. doi: 10.1136/jmg.30.10.873.
PMID:8230166
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.
Foster JW.
Acta Paediatr Jpn. 1996 Aug;38(4):405-11. doi: 10.1111/j.1442-200x.1996.tb03515.x.
PMID:8840554
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature.
Kanno J, Miura A, Kawashima S, Shima H, Suzuki D, Kamimura M, Fujiwara I, Kamimura M, Uematsu M, Kudo M, Kikuchi A.
Endocr J. 2024 Jul 12;71(7):721-727. doi: 10.1507/endocrj.EJ24-0015. Epub 2024 Apr 26.
PMID:38684424
Pituitary gigantism: Causes and clinical characteristics.
Rostomyan L, Daly AF, Beckers A.
Ann Endocrinol (Paris). 2015 Dec;76(6):643-9. doi: 10.1016/j.ando.2015.10.002. Epub 2015 Nov 14.
PMID:26585365
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al.
Nature. 1994 Dec 8;372(6506):525-30. doi: 10.1038/372525a0.
PMID:7990924
[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality].
Feng L, Guo Y, Ma H, He L, Song F, Zhou Y, Tang L.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):768-772. doi: 10.3760/cma.j.cn511374-20210513-00409.
PMID:35810439
X-linked disorders with cerebellar dysgenesis.
Zanni G, Bertini ES.
Orphanet J Rare Dis. 2011 May 15;6:24. doi: 10.1186/1750-1172-6-24.
PMID:21569638
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