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
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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Antonio L,
Priskorn L,
Olesen IA,
Petersen JH,
Vanderschueren D,
Jørgensen N
Bone
2020 Jul;136:115366.
Epub 2020 Apr 15
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PMID: 32304878
Lopes AM,
Aston KI,
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Huang N,
Matthiesen R,
Noordam MJ,
Quintela I,
Ramu A,
Seabra C,
Wilfert AB,
Dai J,
Downie JM,
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Guo X,
Sha J,
Amorim A,
Barros A,
Carracedo A,
Hu Z,
Hurles ME,
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Ober C,
Paduch DA,
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Conrad DF
PLoS Genet
2013 Mar;9(3):e1003349.
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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
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
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
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Dong Y,
Pan Y,
Wang R,
Zhang Z,
Xi Q,
Liu RZ
Genet Mol Res
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Lardone MC,
Piottante A,
Valdevenito R,
Ebensperger M,
Castro A
Andrologia
2013 Dec;45(6):379-85.
Epub 2012 Sep 26
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PMID: 23013062
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
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
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
Prognosis
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
Olesen IA,
Joensen UN,
Petersen JH,
Almstrup K,
Rajpert-De Meyts E,
Carlsen E,
McLachlan R,
Juul A,
Jørgensen N
Hum Reprod
2018 Nov 1;33(11):1963-1974.
doi: 10.1093/humrep/dey283.
PMID: 30247578
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
Glinsky GV
Mol Genet Genomics
2022 Nov;297(6):1711-1740.
Epub 2022 Sep 19
doi: 10.1007/s00438-022-01954-7.
PMID: 36121513Free 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