Volume 3, Number 2C, August 2013 (Special Issue on Medical Genetics)

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The I550V polymorphism in the renal human sodium/dicarboxylate cotransporter 1 (hNaDC-1) gene is associated with the risk for urolithiasis in adults from Southeastern, Mexico

Martha Medina-Escobedo, Diana Franco-Bocanegra, Salha Villanueva-Jorge, Lizbeth González-Herrera

Abstract | References Full-Text HTML   Pub. Date: August 9, 2013

DOI: 10.4236/ojgen.2013.32A3009  2,554 Downloads  3,756 Views   Citations

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Hereditary gastrointestinal polyposis: Diagnosis, genetic test and risk assessment

Marina De Rosa, Francesca Duraturo, Raffaella Liccardo, Paola Izzo

Abstract | References Full-Text HTML   Pub. Date: August 9, 2013

DOI: 10.4236/ojgen.2013.32A3008  3,172 Downloads  4,901 Views   Citations

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Diagnostic challenges in Salla disease

Jessica N. Hartley, Michael S. Salman, Frances A. Booth, Lorne Seargeant, David A. Wenger, Jens Wrogemann, Aizeddin A. Mhanni

Abstract | References Full-Text HTML   Pub. Date: August 9, 2013

DOI: 10.4236/ojgen.2013.32A3007  3,143 Downloads  4,694 Views   Citations

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Hormonally modulated migraine is associated with single-nucleotide polymorphisms within genes involved in dopamine metabolism

Amy K. Sullivan, Elizabeth J. Atkinson, F. Michael Cutrer

Abstract | References Full-Text HTML   Pub. Date: August 9, 2013

DOI: 10.4236/ojgen.2013.32A3006  3,721 Downloads  5,681 Views   Citations

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Cytogenetic abnormalities in 200 male infertile cases in the southern region of India

G. Sreenivasa, Suttur S. Malini, Prasanna Kumari, Usha R. Dutta

Abstract | References Full-Text HTML   Pub. Date: August 7, 2013

DOI: 10.4236/ojgen.2013.32A3005  3,155 Downloads  5,209 Views   Citations

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Review Paper

SRY in an XX male does not influence random chromosome X inactivation: Cytogenetic evidence. Definition of the boundaries of the translocated Y segment through FISH and PCR-RT in a case report and review of the literature

Mariano Stabile, Vincenzo Altieri, Rosa Salzillo, Panfilo Marrollo, Guglielmo Stabile, Tina Iuorio, Bianca Moscato

Abstract | References Full-Text HTML   Pub. Date: August 7, 2013

DOI: 10.4236/ojgen.2013.32A3004  3,714 Downloads  5,930 Views   Citations

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Anxiety and pre-symptomatic testing for neurodegenerative disorders

Lêdo Susana, Leite Ângela, Jorge Sequeiros

Abstract | References Full-Text HTML   Pub. Date: July 22, 2013

DOI: 10.4236/ojgen.2013.32A3003  4,044 Downloads  5,791 Views   Citations

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Predominance of constitutional chromosomal rearrangements in human chromosomal fragile sites

Inês J. Sequeira, João T. Mexia, João Santiago, Rita Mamede, Elisa Silva, Jorge Santos, Daniel Faria, José Rueff, Aldina Brás

Abstract | References Full-Text HTML   Pub. Date: July 22, 2013

DOI: 10.4236/ojgen.2013.32A3002  3,846 Downloads  6,179 Views   Citations

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Fraser Syndrome: Two millennia of cryptophthalmos from Pliny the Elder to FRAS, FREM and GRIP: A historical perspective

George R. Fraser

Abstract | References Full-Text HTML   Pub. Date: July 22, 2013

DOI: 10.4236/ojgen.2013.32A3001  3,662 Downloads  5,496 Views   Citations

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