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Items: 1 to 20 of 30

1.

Accuracy and quality assessment of 454 GS-FLX Titanium pyrosequencing.

Gilles A, Meglécz E, Pech N, Ferreira S, Malausa T, Martin JF.

BMC Genomics. 2011 May 19;12:245. doi: 10.1186/1471-2164-12-245.

2.

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.

Cools M, Pleskacova J, Stoop H, Hoebeke P, Van Laecke E, Drop SL, Lebl J, Oosterhuis JW, Looijenga LH, Wolffenbuttel KP; Mosaicism Collaborative Group.

J Clin Endocrinol Metab. 2011 Jul;96(7):E1171-80. doi: 10.1210/jc.2011-0232. Epub 2011 Apr 20.

3.

Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors.

Rodriguez-Nieto S, Cañada A, Pros E, Pinto AI, Torres-Lanzas J, Lopez-Rios F, Sanchez-Verde L, Pisano DG, Sanchez-Cespedes M.

Hum Mutat. 2011 Feb;32(2):E1999-2017. doi: 10.1002/humu.21415. Epub 2010 Dec 7.

PMID:
21280140
4.

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.

Shahid M, Dhillon VS, Khalil HS, Haque S, Batra S, Husain SA, Looijenga LH.

BMC Med Genet. 2010 Sep 19;11:131. doi: 10.1186/1471-2350-11-131.

5.

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.

Nishi MY, Costa EM, Oliveira SB, Mendonca BB, Domenice S.

Horm Res Paediatr. 2011;75(1):26-31. doi: 10.1159/000316536. Epub 2010 Aug 12.

PMID:
20699606
6.

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ.

Hum Genet. 2010 Mar;127(5):573-82. doi: 10.1007/s00439-010-0801-z. Epub 2010 Feb 18.

7.

Laboratory guideline for Turner syndrome.

Wolff DJ, Van Dyke DL, Powell CM; Working Group of the ACMG Laboratory Quality Assurance Committee.

Genet Med. 2010 Jan;12(1):52-5. doi: 10.1097/GIM.0b013e3181c684b2. Erratum in: Genet Med. 2012 Feb;14(2):281.

PMID:
20081420
8.

Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.

Isidor B, Capito C, Paris F, Baron S, Corradini N, Cabaret B, Leclair MD, Giraud M, Martin-Coignard D, David A, Sultan C, Le Caignec C.

J Clin Endocrinol Metab. 2009 Sep;94(9):3467-71. doi: 10.1210/jc.2009-0226. Epub 2009 Jun 16.

PMID:
19531589
9.

Gonadoblastoma locus and the TSPY gene on the human Y chromosome.

Lau YF, Li Y, Kido T.

Birth Defects Res C Embryo Today. 2009 Mar;87(1):114-22. doi: 10.1002/bdrc.20144. Review.

PMID:
19306348
10.

New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD).

Hersmus R, de Leeuw BH, Wolffenbuttel KP, Drop SL, Oosterhuis JW, Cools M, Looijenga LH.

Mol Cell Endocrinol. 2008 Sep 10;291(1-2):1-10. doi: 10.1016/j.mce.2008.02.028. Epub 2008 Mar 4. Review.

PMID:
18403106
11.

Tumor risk in disorders of sex development (DSD).

Looijenga LH, Hersmus R, Oosterhuis JW, Cools M, Drop SL, Wolffenbuttel KP.

Best Pract Res Clin Endocrinol Metab. 2007 Sep;21(3):480-95. Review.

PMID:
17875493
12.

Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads.

Cools M, Boter M, van Gurp R, Stoop H, Poddighe P, Lau YF, Drop SL, Wolffenbuttel KP, Looijenga LH.

Clin Endocrinol (Oxf). 2007 Aug;67(2):184-92. Epub 2007 Jun 4.

PMID:
17547684
13.

Sex determination and gonadal development in mammals.

Wilhelm D, Palmer S, Koopman P.

Physiol Rev. 2007 Jan;87(1):1-28. Review.

14.

Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome.

Shahid M, Dhillon VS, Aslam M, Husain SA.

J Clin Endocrinol Metab. 2005 Apr;90(4):2429-35. Epub 2005 Feb 1.

PMID:
15687343
15.

SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors.

Sekido R, Bar I, Narváez V, Penny G, Lovell-Badge R.

Dev Biol. 2004 Oct 15;274(2):271-9.

16.

Testicular dysgenesis syndrome.

Skakkebaek NE.

Horm Res. 2003;60 Suppl 3:49.

PMID:
14671395
17.

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.

Queipo G, Zenteno JC, Peña R, Nieto K, Radillo A, Dorantes LM, Eraña L, Lieberman E, Söderlund D, Jiménez AL, Ramón G, Kofman-Alfaro S.

Hum Genet. 2002 Sep;111(3):278-83. Epub 2002 Aug 1.

PMID:
12215841
18.

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter).

Fernandez R, Marchal JA, Sanchez A, Pasaro E.

Hum Genet. 2002 Sep;111(3):242-6. Epub 2002 Jul 20.

PMID:
12215836
19.

Testis determination in mammals: more questions than answers.

Veitia RA, Salas-Cortés L, Ottolenghi C, Pailhoux E, Cotinot C, Fellous M.

Mol Cell Endocrinol. 2001 Jun 20;179(1-2):3-16. Review.

PMID:
11420125
20.

A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.

Canto P, de la Chesnaye E, López M, Cervantes A, Chávez B, Vilchis F, Reyes E, Ulloa-Aguirre A, Kofman-Alfaro S, Méndez JP.

J Clin Endocrinol Metab. 2000 May;85(5):1908-11.

PMID:
10843173

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