PMC Links for OMIM (Select 415000) - PMC

Select item 36166401.

Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

Julian Lange, Helen Skaletsky, Saskia K.M. van Daalen, Stephanie L. Embry, Cindy M. Korver, Laura G. Brown, Robert D. Oates, Sherman Silber, Sjoerd Repping, David C. Page

Cell. Author manuscript; available in PMC 2013 Apr 4.

Published in final edited form as: Cell. 2009 Sep 4; 138(5): 855–869. doi: 10.1016/j.cell.2009.07.042

PMCID:: PMC3616640

Article PDF–3.6M

Select item 34871432.

AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes

Steven G. Rozen, Janet D. Marszalek, Kathryn Irenze, Helen Skaletsky, Laura G. Brown, Robert D. Oates, Sherman J. Silber, Kristin Ardlie, David C. Page

Am J Hum Genet. 2012 Nov 2; 91(5): 890–896. doi: 10.1016/j.ajhg.2012.09.003

PMCID:: PMC3487143

Article PDF–301K

Select item 26982923.

Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background

Csilla Krausz, Claudia Giachini, Yali Xue, Moira K. O’Brya, Joerg Gromoll, Ewa Rajpert-de Meyts, Rafael Oliva, Isabelle Aknin-Seifer, Edit Erdei, Niels Jorgensen, Manuela Simoni, José Luis Ballescà, Rachel Levy, Giancarlo Balercia, Paola Piomboni, Eberhard Nieschlag, Gianni Forti, Rob McLachlan, Chris Tyler-Smith

J Med Genet. Author manuscript; available in PMC 2009 Jul 1.

Published in final edited form as: J Med Genet. 2009 Jan; 46(1): 21–31. Published online 2008 Sep 9. doi: 10.1136/jmg.2008.059915

PMCID:: PMC2698292

Article PDF–728K

Select item 25980194.

Y‐chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population

Barbara Arredi, Alberto Ferlin, Elena Speltra, Chiara Bedin, Daniela Zuccarello, Francesco Ganz, Eleonora Marchina, Liborio Stuppia, Csilla Krausz, Carlo Foresta

J Med Genet. 2007 Mar; 44(3): 205–208. Published online 2006 Dec 8. doi: 10.1136/jmg.2006.046433

PMCID:: PMC2598019

Article PDF–200K

Select item 25980095.

Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility

Feng Zhang, Chuncheng Lu, Zheng Li, Pingxing Xie, Yankai Xia, Xiaobin Zhu, Bin Wu, Xiaoyun Cai, Xiaofeng Wang, Ji Qian, Xinru Wang, Li Jin

J Med Genet. 2007 Jul; 44(7): 437–444. Published online 2007 Apr 5. doi: 10.1136/jmg.2007.049056

PMCID:: PMC2598009

Article PDF–861K

Select item 17360696.

The gr/gr deletion(s): a new genetic test in male infertility?

C Giachini, E Guarducci, G Longepied, S Degl'Innocenti, L Becherini, G Forti, M Mitchell, C Krausz

J Med Genet. 2005 Jun; 42(6): 497–502. doi: 10.1136/jmg.2004.028191

PMCID:: PMC1736069

Summary PDF–114K

Select item 17360097.

Association of partial AZFc region deletions with spermatogenic impairment and male infertility

A Ferlin, A Tessari, F Ganz, E Marchina, S Barlati, A Garolla, B Engl, C Foresta

J Med Genet. 2005 Mar; 42(3): 209–213. doi: 10.1136/jmg.2004.025833

PMCID:: PMC1736009

Summary PDF–119K

Select item 17356248.

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

N Machev, N Saut, G Longepied, P Terriou, A Navarro, N Levy, M Guichaoua, C Metzler-Guillemai..., P Collignon, A Frances, J Belougne, E Clemente, J Chiaroni, C Chevillard, C Durand, A Ducourneau, N Pech, K McElreavey, M Mattei, M Mitchell

J Med Genet. 2004 Nov; 41(11): 814–825. doi: 10.1136/jmg.2004.022111

Correction in:: J Med Genet. 2004 Dec; 41(12): 960.

PMCID:: PMC1735624

Summary PDF–432K

Select item 17352539.

The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men

A Ferlin, E Moro, A Rossi, B Dallapiccola, C Foresta

J Med Genet. 2003 Jan; 40(1): 18–24. doi: 10.1136/jmg.40.1.18

PMCID:: PMC1735253

Summary PDF–225K

Select item 173515110.

A new case of Yq microdeletion transmitted from a normal father to two infertile sons

V Gatta, L Stuppia, G Calabrese, E Morizio, P Guanciali-Franchi, G Palka

J Med Genet. 2002 Jun; 39(6): e27. doi: 10.1136/jmg.39.6.e27

PMCID:: PMC1735151

Summary PDF–91K

Select item 173441811.

The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences

C. Sargent, C. Boucher, S. Kirsch, G. Brown, B. Weiss, A. Trundley, P. Burgoyne, N. Saut, C. Durand, N. Levy, P. Terriou, T. Hargreave, H. Cooke, M. Mitchell, G. Rappold, N. Affara

J Med Genet. 1999 Sep; 36(9): 670–677.

PMCID:: PMC1734418

Summary PDF–233K

Select item 168474912.

A deletion map of the human Y chromosome based on DNA hybridization.

G Vergnaud, D C Page, M C Simmler, L Brown, F Rouyer, B Noel, D Botstein, A de la Chapelle, J Weissenbach

Am J Hum Genet. 1986 Feb; 38(2): 109–124.

PMCID:: PMC1684749

Article PDF–1.8M

Select item 141875513.

Population study of causes, treatment, and outcome of infertility.

M G Hull, C M Glazener, N J Kelly, D I Conway, P A Foster, R A Hinton, C Coulson, P A Lambert, E M Watt, K M Desai

Br Med J (Clin Res Ed) 1985 Dec 14; 291(6510): 1693–1697. doi: 10.1136/bmj.291.6510.1693

PMCID:: PMC1418755

Article PDF–1.0M

Select item 128516114.

The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor

Katherine L. Nathanson, Peter A. Kanetsky, Rachel Hawes, David J. Vaughn, Richard Letrero, Kathy Tucker, Michael Friedlander, Kelly-Anne Phillips, David Hogg, Michael A. S. Jewett, Radka Lohynska, Gedske Daugaard, Stéphane Richard, Agnès Chompret, Catherine Bonaïti-Pellié, Axel Heidenreich, Edith Olah, Lajos Geczi, Istvan Bodrogi, Wilma J. Ormiston, Peter A. Daly, J. Wolter Oosterhuis, Ad J. M. Gillis, Leendert H. J. Looijenga, Parry Guilford, Sophie D. Fosså, Ketil Heimdal, Sergei A. Tjulandin, Ludmila Liubchenko, Hans Stoll, Walter Weber, Matthew Rudd, Robert Huddart, Gillian P. Crockford, David Forman, D. Timothy Oliver, Lawrence Einhorn, Barbara L. Weber, Joan Kramer, Mary McMaster, Mark H. Greene, Malcolm Pike, Victoria Cortessis, Chu Chen, Stephen M. Schwartz, D. Timothy Bishop, Douglas F. Easton, Michael R. Stratton, Elizabeth A. Rapley

Am J Hum Genet. 2005 Dec; 77(6): 1034–1043. Published online 2005 Oct 24. doi: 10.1086/498455

PMCID:: PMC1285161

Article PDF–316K

Select item 101557415.

Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs).

A C Chandley, J R Gosden, T B Hargreave, G Spowart, R M Speed, S McBeath

J Med Genet. 1989 Mar; 26(3): 145–153. doi: 10.1136/jmg.26.3.145

PMCID:: PMC1015574

Article PDF–2.4M

Select item 41999716.

Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure

Sjoerd Repping, Helen Skaletsky, Julian Lange, Sherman Silber, Fulco van der Veen, Robert D. Oates, David C. Page, Steve Rozen

Am J Hum Genet. 2002 Oct; 71(4): 906–922. Published online 2002 Sep 20. doi: 10.1086/342928

PMCID:: PMC419997

Article PDF–766K

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