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Select item 29908611.

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

Pascal Philibert, Delphine Zenaty, Lin Lin, Sylvie Soskin, Françoise Audran, Juliane Léger, John C. Achermann, Charles Sultan

Hum Reprod. Author manuscript; available in PMC 2010 Nov 24.

Published in final edited form as: Hum Reprod. 2007 Dec; 22(12): 3255–3261. Published online 2007 Oct 16. doi: 10.1093/humrep/dem278

PMCID:: PMC2990861

Abstract Article PDF–933K

Select item 38279992.

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

Ana Paula dos Santos, Juliana Gabriel Ribeiro Andrade, Cristiane Santos Cruz Piveta, Juliana de Paulo, Gil Guerra-Junior, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra

BMC Med Genet. 2013; 14: 115. Published online 2013 Nov 5. doi: 10.1186/1471-2350-14-115

PMCID:: PMC3827999

Abstract Article PDF–656K

Select item 36964603.

High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia

Marwan Alhalabi, Mazen Kenj, Fawza Monem, Zaina Mahayri, Ghalia Abou Alchamat, Ammar Madania

J Assist Reprod Genet. 2013 Jun; 30(6): 799–805. Published online 2013 Apr 25. doi: 10.1007/s10815-013-9995-z

PMCID:: PMC3696460

Abstract Article PDF–188K

Select item 35962914.

Gadd45g Is Essential for Primary Sex Determination, Male Fertility and Testis Development

Heiko Johnen, Laura González-Silva, Laura Carramolino, Juana Maria Flores, Miguel Torres, Jesús M. Salvador

PLoS One. 2013; 8(3): e58751. Published online 2013 Mar 13. doi: 10.1371/journal.pone.0058751

PMCID:: PMC3596291

Abstract Article PDF–735K

Select item 33813485.

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

Sally Tantawy, Lin Lin, Ilker Akkurt, Guntram Borck, Dietrich Klingmüller, Berthold P Hauffa, Heiko Krude, Heike Biebermann, John C Achermann, Birgit Köhler

Eur J Endocrinol. 2012 Jul; 167(1): 125–130. Prepublished online 2012 Feb 17. doi: 10.1530/EJE-11-0944

PMCID:: PMC3381348

Abstract Article PDF–131K

Select item 31975796.

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo

PLoS One. 2011; 6(10): e24117. Published online 2011 Oct 20. doi: 10.1371/journal.pone.0024117

PMCID:: PMC3197579

Abstract Article PDF–581K

Select item 31960727.

Mammalian Testis-determining Factor SRY and the Enigma of Inherited Human Sex Reversal: FRUSTRATED INDUCED FIT IN A BENT PROTEIN-DNA COMPLEX

Nelson B. Phillips, Joseph Racca, Yen-Shan Chen, Rupinder Singh, Agnes Jancso-Radek, James T. Radek, Nalinda P. Wickramasinghe, Elisha Haas, Michael A. Weiss

J Biol Chem. 2011 Oct 21; 286(42): 36787–36807. Published online 2011 Aug 17. doi: 10.1074/jbc.M111.260091

PMCID:: PMC3196072

Abstract Article PDF–3.7M

Select item 30869278.

Minor Abnormalities of Testis Development in Mice Lacking the Gene Encoding the MAPK Signalling Component, MAP3K1

Nick Warr, Debora Bogani, Pam Siggers, Rachel Brixey, Hilda Tateossian, Asha Dopplapudi, Sara Wells, Michael Cheeseman, Ying Xia, Harry Ostrer, Andy Greenfield

PLoS One. 2011; 6(5): e19572. Published online 2011 May 3. doi: 10.1371/journal.pone.0019572

PMCID:: PMC3086927

Abstract Article PDF–2.0M

Select item 30716299.

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

Jan Idkowiak, Ewa M. Malunowicz, Vivek Dhir, Nicole Reisch, Maria Szarras-Czapnik, Donna M. Holmes, Cedric H. L. Shackleton, John D. Davies, Ieuan A. Hughes, Nils Krone, Wiebke Arlt

J Clin Endocrinol Metab. 2010 Jul; 95(7): 3418–3427. Published online 2010 Apr 21. doi: 10.1210/jc.2010-0058

PMCID:: PMC3071629

Abstract Article

Select item 304979410.

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

Stefan White, Thomas Ohnesorg, Amanda Notini, Kelly Roeszler, Jacqueline Hewitt, Hinda Daggag, Craig Smith, Erin Turbitt, Sonja Gustin, Jocelyn van den Bergen, Denise Miles, Patrick Western, Valerie Arboleda, Valerie Schumacher, Lavinia Gordon, Katrina Bell, Henrik Bengtsson, Terry Speed, John Hutson, Garry Warne, Vincent Harley, Peter Koopman, Eric Vilain, Andrew Sinclair

PLoS One. 2011; 6(3): e17793. Published online 2011 Mar 7. doi: 10.1371/journal.pone.0017793

PMCID:: PMC3049794

Abstract Article PDF–428K

Select item 304722811.

Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

Taninee Sahakitrungruang, Meng Kian Tee, Piers R. Blackett, Walter L. Miller

J Clin Endocrinol Metab. 2011 Mar; 96(3): 792–798. Published online 2010 Dec 15. doi: 10.1210/jc.2010-1828

PMCID:: PMC3047228

Abstract Article

Select item 299736312.

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Alexander Pearlman, Johnny Loke, Cedric Le Caignec, Stefan White, Lisa Chin, Andrew Friedman, Nicholas Warr, John Willan, David Brauer, Charles Farmer, Eric Brooks, Carole Oddoux, Bridget Riley, Shahin Shajahan, Giovanna Camerino, Tessa Homfray, Andrew H. Crosby, Jenny Couper, Albert David, Andy Greenfield, Andrew Sinclair, Harry Ostrer

Am J Hum Genet. 2010 Dec 10; 87(6): 898–904. doi: 10.1016/j.ajhg.2010.11.003

PMCID:: PMC2997363

Abstract Article PDF–825K

Select item 423959613.

Structure-Function Relationships in Human Testis-determining Factor SRY: AN AROMATIC BUTTRESS UNDERLIES THE SPECIFIC DNA-BENDING SURFACE OF A HIGH MOBILITY GROUP (HMG) BOX

Joseph D. Racca, Yen-Shan Chen, James D. Maloy, Nalinda Wickramasinghe, Nelson B. Phillips, Michael A. Weiss

J Biol Chem. 2014 Nov 21; 289(47): 32410–32429. Published online 2014 Sep 25. doi: 10.1074/jbc.M114.597526

PMCID:: PMC4239596

Abstract Article PDF–4.5M

Select item 264653714.

Regulation of P450c17 Expression in the Early Embryo Depends on GATA Factors

Yimin Shi, Marcus D. Schonemann, Synthia H. Mellon

Endocrinology. 2009 Feb; 150(2): 946–956. Published online 2008 Oct 1. doi: 10.1210/en.2008-0573

PMCID:: PMC2646537

Abstract Article

Select item 235962815.

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Birgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, Peter Wieacker, Peter Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters, John C Achermann

Hum Mutat. 2008 Jan; 29(1): 59–64. doi: 10.1002/humu.20588