Etiology
Lillepea K,
Juchnewitsch AG,
Kasak L,
Valkna A,
Dutta A,
Pomm K,
Poolamets O,
Nagirnaja L,
Tamp E,
Mahyari E,
Vihljajev V,
Tjagur S,
Papadimitriou S,
Riera-Escamilla A,
Versbraegen N,
Farnetani G,
Castillo-Madeen H,
Sütt M,
Kübarsepp V,
Tennisberg S,
Korrovits P,
Krausz C,
Aston KI,
Lenaerts T,
Conrad DF,
Punab M,
Laan M
Am J Hum Genet
2024 May 2;111(5):877-895.
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PMID: 38614076Free PMC Article
Krausz C,
Casamonti E
Hum Genet
2017 May;136(5):637-655.
Epub 2017 Apr 29
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PMID: 28456834
Heyn H,
Ferreira HJ,
Bassas L,
Bonache S,
Sayols S,
Sandoval J,
Esteller M,
Larriba S
PLoS One
2012;7(10):e47892.
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Visser L,
Repping S
Reproduction
2010 Feb;139(2):303-7.
Epub 2009 Sep 23
doi: 10.1530/REP-09-0229.
PMID: 19776097
Bartoloni L,
Cazzadore C,
Ferlin A,
Garolla A,
Foresta C
Mol Hum Reprod
2004 Aug;10(8):613-5.
Epub 2004 Jun 25
doi: 10.1093/molehr/gah073.
PMID: 15220464
Diagnosis
Lillepea K,
Juchnewitsch AG,
Kasak L,
Valkna A,
Dutta A,
Pomm K,
Poolamets O,
Nagirnaja L,
Tamp E,
Mahyari E,
Vihljajev V,
Tjagur S,
Papadimitriou S,
Riera-Escamilla A,
Versbraegen N,
Farnetani G,
Castillo-Madeen H,
Sütt M,
Kübarsepp V,
Tennisberg S,
Korrovits P,
Krausz C,
Aston KI,
Lenaerts T,
Conrad DF,
Punab M,
Laan M
Am J Hum Genet
2024 May 2;111(5):877-895.
Epub 2024 Apr 12
doi: 10.1016/j.ajhg.2024.03.013.
PMID: 38614076Free PMC Article
Riera-Escamilla A,
Vockel M,
Nagirnaja L,
Xavier MJ,
Carbonell A,
Moreno-Mendoza D,
Pybus M,
Farnetani G,
Rosta V,
Cioppi F,
Friedrich C,
Oud MS,
van der Heijden GW,
Soave A,
Diemer T,
Ars E,
Sánchez-Curbelo J,
Kliesch S,
O'Bryan MK,
Ruiz-Castañe E;
GEMINI Consortium,
Azorín F,
Veltman JA,
Aston KI,
Conrad DF,
Tüttelmann F,
Krausz C
Am J Hum Genet
2022 Aug 4;109(8):1458-1471.
Epub 2022 Jul 8
doi: 10.1016/j.ajhg.2022.06.007.
PMID: 35809576Free PMC Article
Krausz C,
Casamonti E
Hum Genet
2017 May;136(5):637-655.
Epub 2017 Apr 29
doi: 10.1007/s00439-017-1793-8.
PMID: 28456834
Anawalt BD
J Clin Endocrinol Metab
2013 Sep;98(9):3532-42.
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PMID: 24014811Free PMC Article
Massart A,
Lissens W,
Tournaye H,
Stouffs K
Asian J Androl
2012 Jan;14(1):40-8.
Epub 2011 Dec 5
doi: 10.1038/aja.2011.67.
PMID: 22138898Free PMC Article
Therapy
Kasak L,
Lillepea K,
Nagirnaja L,
Aston KI,
Schlegel PN,
Gonçalves J,
Carvalho F,
Moreno-Mendoza D,
Almstrup K,
Eisenberg ML,
Jarvi KA,
O'Bryan MK,
Lopes AM,
Conrad DF;
GEMINI Consortium,
Punab M,
Laan M
Hum Reprod
2022 Jun 30;37(7):1652-1663.
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PMID: 35535697Free PMC Article
Alsubaie LM,
Alsuwat HS,
Almandil NB,
AlSulaiman A,
AbdulAzeez S,
Borgio JF
Mol Biol Rep
2020 Oct;47(10):7623-7632.
Epub 2020 Sep 29
doi: 10.1007/s11033-020-05832-6.
PMID: 32996047
Sapkota Y,
Wilson CL,
Zaidi AK,
Moon W,
Fon Tacer K,
Lu L,
Liu Q,
Baedke J,
Dhaduk R,
Wang Z,
Chemaitilly W,
Krasin MJ,
Berry FB,
Zhang J,
Hudson MM,
Robison LL,
Green DM,
Yasui Y
Cancer Res
2020 Sep 1;80(17):3755-3764.
Epub 2020 Jun 17
doi: 10.1158/0008-5472.CAN-20-0093.
PMID: 32554749Free PMC Article
Kumar R
Clinics (Sao Paulo)
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Poongothai J,
Gopenath TS,
Manonayaki S
Singapore Med J
2009 Apr;50(4):336-47.
PMID: 19421675
Prognosis
Wyrwoll MJ,
Gaasbeek CM,
Golubickaite I,
Stakaitis R,
Oud MS,
Nagirnaja L,
Dion C,
Sindi EB,
Leitch HG,
Jayasena CN,
Sironen A,
Dicke AK,
Rotte N,
Stallmeyer B,
Kliesch S,
Grangeiro CHP,
Araujo TF,
Lasko P;
Genetics of Male Infertility Initiative (GEMINI) consortium,
D'Hauwers K,
Smits RM,
Ramos L,
Xavier MJ,
Conrad DF,
Almstrup K,
Veltman JA,
Tüttelmann F,
van der Heijden GW
Am J Hum Genet
2022 Oct 6;109(10):1850-1866.
Epub 2022 Sep 22
doi: 10.1016/j.ajhg.2022.09.002.
PMID: 36150389Free PMC Article
Kasak L,
Laan M
Hum Genet
2021 Jan;140(1):135-154.
Epub 2020 Jan 18
doi: 10.1007/s00439-020-02112-y.
PMID: 31955275
Shiraishi K,
Matsuyama H
Int J Urol
2020 Dec;27(12):1124-1129.
Epub 2020 Sep 11
doi: 10.1111/iju.14368.
PMID: 32914440
Sapkota Y,
Wilson CL,
Zaidi AK,
Moon W,
Fon Tacer K,
Lu L,
Liu Q,
Baedke J,
Dhaduk R,
Wang Z,
Chemaitilly W,
Krasin MJ,
Berry FB,
Zhang J,
Hudson MM,
Robison LL,
Green DM,
Yasui Y
Cancer Res
2020 Sep 1;80(17):3755-3764.
Epub 2020 Jun 17
doi: 10.1158/0008-5472.CAN-20-0093.
PMID: 32554749Free PMC Article
Krausz C,
Casamonti E
Hum Genet
2017 May;136(5):637-655.
Epub 2017 Apr 29
doi: 10.1007/s00439-017-1793-8.
PMID: 28456834
Clinical prediction guides
Lillepea K,
Juchnewitsch AG,
Kasak L,
Valkna A,
Dutta A,
Pomm K,
Poolamets O,
Nagirnaja L,
Tamp E,
Mahyari E,
Vihljajev V,
Tjagur S,
Papadimitriou S,
Riera-Escamilla A,
Versbraegen N,
Farnetani G,
Castillo-Madeen H,
Sütt M,
Kübarsepp V,
Tennisberg S,
Korrovits P,
Krausz C,
Aston KI,
Lenaerts T,
Conrad DF,
Punab M,
Laan M
Am J Hum Genet
2024 May 2;111(5):877-895.
Epub 2024 Apr 12
doi: 10.1016/j.ajhg.2024.03.013.
PMID: 38614076Free PMC Article
Krausz C,
Casamonti E
Hum Genet
2017 May;136(5):637-655.
Epub 2017 Apr 29
doi: 10.1007/s00439-017-1793-8.
PMID: 28456834
Heyn H,
Ferreira HJ,
Bassas L,
Bonache S,
Sayols S,
Sandoval J,
Esteller M,
Larriba S
PLoS One
2012;7(10):e47892.
Epub 2012 Oct 24
doi: 10.1371/journal.pone.0047892.
PMID: 23112866Free PMC Article
Massart A,
Lissens W,
Tournaye H,
Stouffs K
Asian J Androl
2012 Jan;14(1):40-8.
Epub 2011 Dec 5
doi: 10.1038/aja.2011.67.
PMID: 22138898Free PMC Article
Sachdeva K,
Saxena R,
Majumdar A,
Chadda S,
Verma IC
Genet Test Mol Biomarkers
2011 Jun;15(6):451-9.
Epub 2011 Mar 4
doi: 10.1089/gtmb.2010.0159.
PMID: 21375402