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References

These sources were used to develop the Genetics Home Reference gene summary on the SRY gene.

Assumpção JG, Benedetti CE, Maciel-Guerra AT, Guerra G Jr, Baptista MT, Scolfaro MR, de Mello MP. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. J Mol Med (Berl). 2002 Dec;80(12):782-90. Epub 2002 Oct 1. PubMed citation
Entrez Gene
Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Eur J Hum Genet. 2007 Jan;15(1):76-80. Epub 2006 Oct 25. PubMed citation
Kellermayer R, Halvax L, Czakó M, Shahid M, Dhillon VS, Husain SA, Süle N, Gömöri E, Mammel M, Kosztolányi G. A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. Diagn Mol Pathol. 2005 Sep;14(3):159-63. PubMed citation
OMIM: SEX-DETERMINING REGION Y
Phillips NB, Jancso-Radek A, Ittah V, Singh R, Chan G, Haas E, Weiss MA. SRY and human sex determination: the basic tail of the HMG box functions as a kinetic clamp to augment DNA bending. J Mol Biol. 2006 Apr 21;358(1):172-92. Epub 2006 Feb 6. PubMed citation
Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballescá JL, Oliva R, Soler A, Sánchez A, Margarit E. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion. Am J Med Genet A. 2008 May 15;146A(10):1335-40. doi: 10.1002/ajmg.a.32284. PubMed citation
Rizvi AA. 46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management. Am J Med Sci. 2008 Apr;335(4):307-9. doi: 10.1097/MAJ.0b013e31811ec1b4. PubMed citation
Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA. Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod. 2004 Jul;10(7):521-6. Epub 2004 May 21. PubMed citation
Waters PD, Wallis MC, Marshall Graves JA. Mammalian sex--Origin and evolution of the Y chromosome and SRY. Semin Cell Dev Biol. 2007 Jun;18(3):389-400. Epub 2007 Feb 24. Review. PubMed citation


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