Etiology
Nagirnaja L,
Lopes AM,
Charng WL,
Miller B,
Stakaitis R,
Golubickaite I,
Stendahl A,
Luan T,
Friedrich C,
Mahyari E,
Fadial E,
Kasak L,
Vigh-Conrad K,
Oud MS,
Xavier MJ,
Cheers SR,
James ER,
Guo J,
Jenkins TG,
Riera-Escamilla A,
Barros A,
Carvalho F,
Fernandes S,
Gonçalves J,
Gurnett CA,
Jørgensen N,
Jezek D,
Jungheim ES,
Kliesch S,
McLachlan RI,
Omurtag KR,
Pilatz A,
Sandlow JI,
Smith J,
Eisenberg ML,
Hotaling JM,
Jarvi KA,
Punab M,
Rajpert-De Meyts E,
Carrell DT,
Krausz C,
Laan M,
O'Bryan MK,
Schlegel PN,
Tüttelmann F,
Veltman JA,
Almstrup K,
Aston KI,
Conrad DF
Nat Commun
2022 Dec 26;13(1):7953.
doi: 10.1038/s41467-022-35661-z.
PMID: 36572685Free PMC Article
Kamiński P,
Baszyński J,
Jerzak I,
Kavanagh BP,
Nowacka-Chiari E,
Polanin M,
Szymański M,
Woźniak A,
Kozera W
Int J Mol Sci
2020 Jul 24;21(15)
doi: 10.3390/ijms21155274.
PMID: 32722328Free 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
Plotton I,
Brosse A,
Cuzin B,
Lejeune H
Ann Endocrinol (Paris)
2014 May;75(2):118-25.
Epub 2014 Apr 29
doi: 10.1016/j.ando.2014.04.004.
PMID: 24786702
Huang WJ,
Yen PH
Sex Dev
2008;2(4-5):251-9.
Epub 2008 Nov 5
doi: 10.1159/000152041.
PMID: 18987499
Diagnosis
Nagirnaja L,
Lopes AM,
Charng WL,
Miller B,
Stakaitis R,
Golubickaite I,
Stendahl A,
Luan T,
Friedrich C,
Mahyari E,
Fadial E,
Kasak L,
Vigh-Conrad K,
Oud MS,
Xavier MJ,
Cheers SR,
James ER,
Guo J,
Jenkins TG,
Riera-Escamilla A,
Barros A,
Carvalho F,
Fernandes S,
Gonçalves J,
Gurnett CA,
Jørgensen N,
Jezek D,
Jungheim ES,
Kliesch S,
McLachlan RI,
Omurtag KR,
Pilatz A,
Sandlow JI,
Smith J,
Eisenberg ML,
Hotaling JM,
Jarvi KA,
Punab M,
Rajpert-De Meyts E,
Carrell DT,
Krausz C,
Laan M,
O'Bryan MK,
Schlegel PN,
Tüttelmann F,
Veltman JA,
Almstrup K,
Aston KI,
Conrad DF
Nat Commun
2022 Dec 26;13(1):7953.
doi: 10.1038/s41467-022-35661-z.
PMID: 36572685Free 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
Kamiński P,
Baszyński J,
Jerzak I,
Kavanagh BP,
Nowacka-Chiari E,
Polanin M,
Szymański M,
Woźniak A,
Kozera W
Int J Mol Sci
2020 Jul 24;21(15)
doi: 10.3390/ijms21155274.
PMID: 32722328Free PMC Article
Cannarella R,
Condorelli RA,
Duca Y,
La Vignera S,
Calogero AE
Hum Genet
2019 Feb;138(2):125-140.
Epub 2019 Jan 17
doi: 10.1007/s00439-019-01974-1.
PMID: 30656449
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
Therapy
Kamiński P,
Baszyński J,
Jerzak I,
Kavanagh BP,
Nowacka-Chiari E,
Polanin M,
Szymański M,
Woźniak A,
Kozera W
Int J Mol Sci
2020 Jul 24;21(15)
doi: 10.3390/ijms21155274.
PMID: 32722328Free PMC Article
Ogedengbe OO,
Naidu ECS,
Azu OO
Eur J Drug Metab Pharmacokinet
2018 Apr;43(2):121-135.
doi: 10.1007/s13318-017-0438-6.
PMID: 28956285
Wang J,
Wang W,
Li S,
Han Y,
Zhang P,
Meng G,
Xiao Y,
Xie L,
Wang X,
Sha J,
Chen Q,
Moore PK,
Wang R,
Xiang W,
Ji Y
Antioxid Redox Signal
2018 Jun 1;28(16):1447-1462.
Epub 2017 Oct 16
doi: 10.1089/ars.2016.6968.
PMID: 28537489
Bansal SK,
Gupta G,
Rajender S
Mutat Res Rev Mutat Res
2016 Apr-Jun;768:78-90.
Epub 2016 May 4
doi: 10.1016/j.mrrev.2016.04.007.
PMID: 27234565
Plotton I,
Brosse A,
Cuzin B,
Lejeune H
Ann Endocrinol (Paris)
2014 May;75(2):118-25.
Epub 2014 Apr 29
doi: 10.1016/j.ando.2014.04.004.
PMID: 24786702
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
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
Arena S,
Impellizzeri P,
Fazzari C,
Peri Flora M,
Enrica A,
Calabrese U,
Centorrino A,
Alibrandi A,
Romeo C
Urol J
2020 Jun 23;17(4):391-396.
doi: 10.22037/uj.v0i0.5351.
PMID: 32207142
Colaco S,
Modi D
J Assist Reprod Genet
2019 Jul;36(7):1329-1337.
Epub 2019 Jun 18
doi: 10.1007/s10815-019-01492-z.
PMID: 31214882Free 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
Kikas T,
Punab AM,
Kasak L,
Poolamets O,
Vihljajev V,
Pomm K,
Reiman M,
Tjagur S,
Korrovits P,
Punab M,
Laan M
Sci Rep
2023 Jan 11;13(1):574.
doi: 10.1038/s41598-023-27750-w.
PMID: 36631630Free PMC Article
Colaco S,
Modi D
J Assist Reprod Genet
2019 Jul;36(7):1329-1337.
Epub 2019 Jun 18
doi: 10.1007/s10815-019-01492-z.
PMID: 31214882Free PMC Article
Wang J,
Wang W,
Li S,
Han Y,
Zhang P,
Meng G,
Xiao Y,
Xie L,
Wang X,
Sha J,
Chen Q,
Moore PK,
Wang R,
Xiang W,
Ji Y
Antioxid Redox Signal
2018 Jun 1;28(16):1447-1462.
Epub 2017 Oct 16
doi: 10.1089/ars.2016.6968.
PMID: 28537489
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
Rozen SG,
Marszalek JD,
Irenze K,
Skaletsky H,
Brown LG,
Oates RD,
Silber SJ,
Ardlie K,
Page DC
Am J Hum Genet
2012 Nov 2;91(5):890-6.
Epub 2012 Oct 25
doi: 10.1016/j.ajhg.2012.09.003.
PMID: 23103232Free PMC Article