PMID: 11897813Mar 19, 2002Paper

Human gene mutations causing infertility

Journal of Medical Genetics
Lawrence C Layman

Abstract

The identification of gene mutations causing infertility in humans remains noticeably deficient at present. Although most males and females with infertility display normal pubertal development, nearly all of the gene mutations in humans have been characterised in people with deficient puberty and subsequent infertility. Gene mutations are arbitrarily categorised into four different compartments (I, hypothalamic; II, pituitary; III, gonadal; and IV, outflow tract). Diagnoses of infertility include hypogonadotrophic hypogonadism (compartments I and II), hypergonadotrophic hypogonadism (III), and obstructive disorders (compartment IV). Most gene mutations identified to date affect gonadal function, but it is also apparent that a large number of important genes in normal fertility have yet to be realised.

References

Oct 6, 1979·Lancet·F KaufmanU Goebelsmann
Jun 25, 1992·The New England Journal of Medicine·D BickA Ballabio
Jan 16, 1992·The New England Journal of Medicine·J WeissJ L Jameson
Apr 28, 1995·Molecular and Cellular Endocrinology·V M DukeA S Woolf
Jul 26, 1995·JAMA : the Journal of the American Medical Association·W GuoM N Horlick
Jun 1, 1995·The New England Journal of Medicine·M ChillónM Claustres
Dec 8, 1993·JAMA : the Journal of the American Medical Association·E I Rugarli, A Ballabio
Dec 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·Y ItoE R Simpson
Apr 1, 1993·Human Molecular Genetics·J P HardelinC Petit
Oct 1, 1996·The Journal of Clinical Endocrinology and Metabolism·K AittomäkiA de la Chapelle
Nov 1, 1996·The Journal of Clinical Endocrinology and Metabolism·S P ToledoA P Kremer H Themmen
Jan 1, 1997·The Journal of Clinical Endocrinology and Metabolism·N A GeorgopoulosM Vallejo
Feb 1, 1997·Nature Genetics·D P Mortlock, J W Innis
Aug 28, 1997·The New England Journal of Medicine·L C LaymanJ L Jameson
Aug 28, 1997·The New England Journal of Medicine·C Matthews, V K Chatterjee
Dec 17, 1997·Nature Genetics·K NagamineN Shimizu
Dec 17, 1997·Nature Genetics·S BarbauxK McElreavey
Feb 14, 1998·Nature Genetics·W WuM G Rosenfeld
Mar 21, 1998·Nature Genetics·A StrobelA D Strosberg

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Citations

Apr 17, 2009·Biology of Reproduction·Anastasia KuzminSusannah Varmuza
Mar 10, 2010·Reproductive Biology and Endocrinology : RB&E·Olaf SunnotelColum P Walsh
Jan 1, 2008·Hereditary Cancer in Clinical Practice·Martijn F Lutke HolzikHarald J Hoekstra
May 27, 2009·Indian Journal of Urology : IJU : Journal of the Urological Society of India·Poongothai J Sakthivel, Manonayaki Swaminathan
Oct 30, 2008·Asian Journal of Andrology·Bing Yao Jian WangYi-Feng Ge
Jan 21, 2014·Women's Health Issues : Official Publication of the Jacobs Institute of Women's Health·Benjamin M CraigGwendolyn P Quinn
Oct 2, 2012·Fertility and Sterility·Quincy Zhong, Lawrence C Layman
Apr 13, 2010·Reproductive Biomedicine Online·Hridesh DixitLalji Singh
Jun 5, 2007·Endocrinology and Metabolism Clinics of North America·Lawrence C Layman
Aug 16, 2003·Clinical Genetics·D G CrugerG Bruun-Petersen
Jul 10, 2003·Acta Obstetricia Et Gynecologica Scandinavica·Ganesh AcharyaJan Martin Maltau
Jul 3, 2003·Obstetrics and Gynecology Clinics of North America·Clarisa R Gracia, Deborah A Driscoll
Mar 19, 2013·Molecular and Cellular Endocrinology·Lawrence C Layman
Jan 30, 2015·Journal of Assisted Reproduction and Genetics·Merlin G ButlerAnn M Manzardo
May 29, 2012·American Journal of Human Genetics·Gülüm KosovaCarole Ober
Jun 15, 2007·American Journal of Human Genetics·Anna PluzhnikovCarole Ober
Aug 18, 2017·Reproduction, Fertility, and Development·Khairy M El-BayomiMohammed A El-Magd
Mar 5, 2005·Human Reproduction·Olivier PirrelloStéphane Viville
Sep 30, 2005·Cytogenetic and Genome Research·U A Mau-Holzmann
Jun 9, 2005·The Journal of Clinical Endocrinology and Metabolism·Rachel ReynaudThierry Brue
Aug 29, 2020·Human Reproduction·D Cornet-BartoloméR Vassena
Jun 27, 2003·Journal of Andrology·Kumarasamy ThangarajLalji Singh
Oct 3, 2019·Journal of Human Reproductive Sciences·Paresh SinghalAmit Agrawal
Oct 7, 2010·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Sofia BouchlariotouVasileios Liberis
Nov 5, 2003·Journal of Endocrinological Investigation·L StuppiaG Palka
Dec 24, 2018·International Journal of Molecular Sciences·Anaís García-RodríguezStephen Johnston
Nov 15, 2020·Molecular Ecology Resources·Parice A BrandiesKatherine Belov
Dec 14, 2002·Gynécologie, obstétrique & fertilité·B Mandon-PépinM Fellous

❮ Previous
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