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.
Epub 2024 Apr 12
doi: 10.1016/j.ajhg.2024.03.013.
PMID: 38614076Free PMC Article
Muranishi Y,
Kobori Y,
Katoh-Fukui Y,
Tamaoka S,
Hattori A,
Osaka A,
Okada H,
Nakabayashi K,
Hata K,
Kawai T,
Ogata-Kawata H,
Iwahata T,
Saito K,
Kon M,
Shinohara N,
Fukami M
Hum Reprod
2024 May 2;39(5):1131-1140.
doi: 10.1093/humrep/deae057.
PMID: 38511217
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
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.
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Mäkelä S,
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Mikkola M,
Hovatta O,
Kere J
Mol Hum Reprod
2005 Feb;11(2):129-32.
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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
Muranishi Y,
Kobori Y,
Katoh-Fukui Y,
Tamaoka S,
Hattori A,
Osaka A,
Okada H,
Nakabayashi K,
Hata K,
Kawai T,
Ogata-Kawata H,
Iwahata T,
Saito K,
Kon M,
Shinohara N,
Fukami M
Hum Reprod
2024 May 2;39(5):1131-1140.
doi: 10.1093/humrep/deae057.
PMID: 38511217
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
Dong Y,
Pan Y,
Wang R,
Zhang Z,
Xi Q,
Liu RZ
Genet Mol Res
2015 Dec 7;14(4):16041-9.
doi: 10.4238/2015.December.7.17.
PMID: 26662397
Qureshi SJ,
Ross AR,
Ma K,
Cooke HJ,
Intyre MA,
Chandley AC,
Hargreave TB
Mol Hum Reprod
1996 Oct;2(10):775-9.
doi: 10.1093/molehr/2.10.775.
PMID: 9239696
Therapy
Muranishi Y,
Kobori Y,
Katoh-Fukui Y,
Tamaoka S,
Hattori A,
Osaka A,
Okada H,
Nakabayashi K,
Hata K,
Kawai T,
Ogata-Kawata H,
Iwahata T,
Saito K,
Kon M,
Shinohara N,
Fukami M
Hum Reprod
2024 May 2;39(5):1131-1140.
doi: 10.1093/humrep/deae057.
PMID: 38511217
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.
doi: 10.1093/humrep/deac100.
PMID: 35535697Free PMC Article
Achermann APP,
Pereira TA,
Esteves SC
Int Urol Nephrol
2021 Nov;53(11):2193-2210.
Epub 2021 Aug 19
doi: 10.1007/s11255-021-02979-4.
PMID: 34410586
Andreassi MG,
Borghini A,
Vecoli C,
Piccaluga E,
Guagliumi G,
Del Greco M,
Gaita F,
Picano E
Environ Mol Mutagen
2020 Mar;61(3):361-368.
Epub 2019 Oct 25
doi: 10.1002/em.22341.
PMID: 31605552
Gu Y,
Liang X,
Wu W,
Liu M,
Song S,
Cheng L,
Bo L,
Xiong C,
Wang X,
Liu X,
Peng L,
Yao K
J Clin Endocrinol Metab
2009 Jun;94(6):1910-5.
Epub 2009 Mar 17
doi: 10.1210/jc.2008-1846.
PMID: 19293262
Prognosis
Plata-Peña L,
López-Rodrigo O,
Bassas L,
Larriba S
Andrology
2023 May;11(4):668-676.
Epub 2022 Sep 17
doi: 10.1111/andr.13286.
PMID: 36057114
Cannarella R,
Caruso M,
Crafa A,
Timpanaro TA,
Lo Bianco M,
Presti S,
Condorelli RA,
La Vignera S,
Calogero AE
Front Endocrinol (Lausanne)
2021;12:619895.
Epub 2021 Apr 2
doi: 10.3389/fendo.2021.619895.
PMID: 33868165Free PMC Article
Arshad MA,
Majzoub A,
Esteves SC
Int Urol Nephrol
2020 Nov;52(11):2015-2038.
Epub 2020 Jun 9
doi: 10.1007/s11255-020-02529-4.
PMID: 32519242
Antonio L,
Priskorn L,
Olesen IA,
Petersen JH,
Vanderschueren D,
Jørgensen N
Bone
2020 Jul;136:115366.
Epub 2020 Apr 15
doi: 10.1016/j.bone.2020.115366.
PMID: 32304878
Sharma H,
Mavuduru RS,
Singh SK,
Prasad R
Gene
2014 Sep 10;548(1):43-7.
Epub 2014 Jul 7
doi: 10.1016/j.gene.2014.07.005.
PMID: 25010724
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
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
Arshad MA,
Majzoub A,
Esteves SC
Int Urol Nephrol
2020 Nov;52(11):2015-2038.
Epub 2020 Jun 9
doi: 10.1007/s11255-020-02529-4.
PMID: 32519242
Imken L,
Rouba H,
El Houate B,
Louanjli N,
Barakat A,
Chafik A,
McElreavey K
Mol Hum Reprod
2009 Nov;15(11):733-8.
Epub 2009 Jul 14
doi: 10.1093/molehr/gap056.
PMID: 19602509
Qureshi SJ,
Ross AR,
Ma K,
Cooke HJ,
Intyre MA,
Chandley AC,
Hargreave TB
Mol Hum Reprod
1996 Oct;2(10):775-9.
doi: 10.1093/molehr/2.10.775.
PMID: 9239696