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Items: 7

1.
2.

Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation.

Blondeel E, Molina-Gomes D, Bouhanna P, Fauvert D, Crosnier H, Dessuant H, Vialard F.

Clin Case Rep. 2014 Jun;2(3):98-102. doi: 10.1002/ccr3.71. Epub 2014 May 5.

3.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR.

Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25.

4.

Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cells.

Urbach A, Benvenisty N.

PLoS One. 2009;4(1):e4175. doi: 10.1371/journal.pone.0004175. Epub 2009 Jan 12.

5.

The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome.

Levy MA, Fernandes AD, Tremblay DC, Seah C, Bérubé NG.

BMC Genomics. 2008 Oct 8;9:468. doi: 10.1186/1471-2164-9-468.

6.

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G.

Am J Hum Genet. 1998 Mar;62(3):562-72.

7.

Differential structuring of human populations for homologous X and Y microsatellite loci.

Scozzari R, Cruciani F, Malaspina P, Santolamazza P, Ciminelli BM, Torroni A, Modiano D, Wallace DC, Kidd KK, Olckers A, Moral P, Terrenato L, Akar N, Qamar R, Mansoor A, Mehdi SQ, Meloni G, Vona G, Cole DE, Cai W, Novelletto A.

Am J Hum Genet. 1997 Sep;61(3):719-33.

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