Genetics of Human Infertility
Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects.
Translating those basic research ?ndings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods.
This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.
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1 - 16: Genetic Basis of Male and Female InfertilityByRathika Mallepaly;Rathika MallepalybScott Department of Urology andSearch for other works by this author on:Peter R. Butler;Peter R. ButleraCenter for Reproductive Medicine,bScott Department of Urology andSearch for other works by this author on:Amin S. Herati;Amin S. HeratiaCenter for Reproductive Medicine,bScott Department of Urology andSearch for other works by this author on:Dolores J. LambDolores J. LambaCenter for Reproductive Medicine,bScott Department of Urology andcDepartment of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USASearch for other works by this author on:
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17 - 39: Genetics of Premature Ovarian Failure: New Developments in EtiologyByYinying Qin;Yinying QinaCenter for Reproductive Medicine, Shandong Provincial Hospital, Shandong University,bNational Research Center for Assisted Reproductive Technology and Reproductive Genetics,cThe Key Laboratory for Reproductive Endocrinology of the Ministry of Education, anddShandong Provincial Key Laboratory of Reproductive Medicine, Jinan, andSearch for other works by this author on:Joe Leigh Simpson;Joe Leigh SimpsongThe March of Dimes Foundation, White Plains, NY, andhHerbert Wertheim College of Medicine, Florida International University, Miami, FL, USASearch for other works by this author on:Zi-Jiang ChenZi-Jiang ChenaCenter for Reproductive Medicine, Shandong Provincial Hospital, Shandong University,bNational Research Center for Assisted Reproductive Technology and Reproductive Genetics,cThe Key Laboratory for Reproductive Endocrinology of the Ministry of Education, anddShandong Provincial Key Laboratory of Reproductive Medicine, Jinan, andeCenter for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, andfShanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China;Search for other works by this author on:
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40 - 56: Genetics of Klinefelter Syndrome: Experimental ExplorationByJoachim Wistuba;Joachim WistubaCentre of Reproductive Medicine and Andrology, University of Muenster, Muenster, GermanySearch for other works by this author on:Cristin Brand;Cristin BrandCentre of Reproductive Medicine and Andrology, University of Muenster, Muenster, GermanySearch for other works by this author on:Michael Zitzmann;Michael ZitzmannCentre of Reproductive Medicine and Andrology, University of Muenster, Muenster, GermanySearch for other works by this author on:Oliver S. DammOliver S. DammCentre of Reproductive Medicine and Andrology, University of Muenster, Muenster, GermanySearch for other works by this author on:
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57 - 73: Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene FunctionByPeter H. Vogt;Peter H. VogtReproduction Genetics Unit, Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Heidelberg, GermanySearch for other works by this author on:U. Bender;U. BenderReproduction Genetics Unit, Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Heidelberg, GermanySearch for other works by this author on:J. Zimmer;J. ZimmerReproduction Genetics Unit, Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Heidelberg, GermanySearch for other works by this author on:T. StrowitzkiT. StrowitzkiReproduction Genetics Unit, Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Heidelberg, GermanySearch for other works by this author on:
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74 - 85: Genetics and Pathophysiology of the Cystic Fibrosis Transmembrane Conductance Regulator in Male Reproduction: New Evidence of a Direct Effect on the Male GermlineByAminata TouréAminata TouréInstitut Cochin, INSERM U1016, CNRS UMR8104, and Université Paris Descartes, Sorbonne Paris Cité, Paris, FranceSearch for other works by this author on:
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86 - 100: The Genetics of Androgen Receptor Signalling in Male FertilityByLaura O'Hara;Laura O'HaraMedical Research Council Centre for Reproductive Health, University of Edinburgh, Edinburgh, UKSearch for other works by this author on:Lee B. SmithLee B. SmithMedical Research Council Centre for Reproductive Health, University of Edinburgh, Edinburgh, UKSearch for other works by this author on:
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101 - 115: The Genetics of Postmeiotic Male Germ Cell Differentiation from Round Spermatids to Mature SpermByTiina Lehtiniemi;Tiina LehtiniemiInstitute of Biomedicine, University of Turku, Turku, FinlandSearch for other works by this author on:Noora KotajaNoora KotajaInstitute of Biomedicine, University of Turku, Turku, FinlandSearch for other works by this author on:
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116 - 127: The Epigenetics of Sperm ChromatinByMonis B. Shamsi;Monis B. ShamsiaAndrology and IVF Laboratory, Department of Surgery (Urology),Search for other works by this author on:Luke Simon;Luke SimonaAndrology and IVF Laboratory, Department of Surgery (Urology),Search for other works by this author on:Douglas T. CarrellDouglas T. CarrellaAndrology and IVF Laboratory, Department of Surgery (Urology),bDepartment of Obstetrics and Gynecology, andcDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USASearch for other works by this author on:
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128 - 142: Characteristic Features of Male Germline Development in PrimatesByRüdiger BehrRüdiger BehrPlatform Degenerative Diseases, German Primate Center - Leibniz Institute for Primate Research, and DZHK (German Center for Cardiovascular Research), Göttingen, GermanySearch for other works by this author on:
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143 - 161: Genetic and Epigenetic Mouse Models of Human Male InfertilityByMaren Godmann;Maren GodmannCenter for Molecular Biomedicine (CMB), Department of Biochemistry, Friedrich Schiller University Jena, Jena, GermanySearch for other works by this author on:Sandra Zemter;Sandra ZemterCenter for Molecular Biomedicine (CMB), Department of Biochemistry, Friedrich Schiller University Jena, Jena, GermanySearch for other works by this author on:Christian KosanChristian KosanCenter for Molecular Biomedicine (CMB), Department of Biochemistry, Friedrich Schiller University Jena, Jena, GermanySearch for other works by this author on:
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162 - 172: In vitro Spermatogenesis and Its Potential Clinical Implication for PatientsByJan-Bernd Stukenborg;Jan-Bernd StukenborgaDepartment of Women's and Children's Health, Paediatric Endocrinology Unit, NORDFERTIL Research Lab Stockholm; Q2:08, Karolinska Institute and University Hospital, Stockholm, Sweden;Search for other works by this author on:Kirsi JahnukainenKirsi JahnukainenaDepartment of Women's and Children's Health, Paediatric Endocrinology Unit, NORDFERTIL Research Lab Stockholm; Q2:08, Karolinska Institute and University Hospital, Stockholm, Sweden;bDivision of Haematology-Oncology and Stem Cell Transplantation, Children's Hospital, University of Helsinki, Helsinki University Central Hospital, Helsinki, FinlandSearch for other works by this author on: