Etiology
Peddu D,
Amin S,
Ying YM
Otol Neurotol
2022 Mar 1;43(3):e298-e308.
doi: 10.1097/MAO.0000000000003450.
PMID: 35147601
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Alford RL
Adv Otorhinolaryngol
2011;70:37-42.
Epub 2011 Feb 24
doi: 10.1159/000322867.
PMID: 21358183
Marcocci E,
Uliana V,
Bruttini M,
Artuso R,
Silengo MC,
Zerial M,
Bergesio F,
Amoroso A,
Savoldi S,
Pennesi M,
Giachino D,
Rombolà G,
Fogazzi GB,
Rosatelli C,
Martinhago CD,
Carmellini M,
Mancini R,
Di Costanzo G,
Longo I,
Renieri A,
Mari F
Nephrol Dial Transplant
2009 May;24(5):1464-71.
Epub 2009 Jan 7
doi: 10.1093/ndt/gfn681.
PMID: 19129241
Lemmink HH,
Schröder CH,
Monnens LA,
Smeets HJ
Hum Mutat
1997;9(6):477-99.
doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#.
PMID: 9195222
Diagnosis
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Bhambhani V,
Muenke M
Am Fam Physician
2014 Jan 1;89(1):37-43.
PMID: 24444506Free PMC Article
Alford RL
Adv Otorhinolaryngol
2011;70:37-42.
Epub 2011 Feb 24
doi: 10.1159/000322867.
PMID: 21358183
Marcocci E,
Uliana V,
Bruttini M,
Artuso R,
Silengo MC,
Zerial M,
Bergesio F,
Amoroso A,
Savoldi S,
Pennesi M,
Giachino D,
Rombolà G,
Fogazzi GB,
Rosatelli C,
Martinhago CD,
Carmellini M,
Mancini R,
Di Costanzo G,
Longo I,
Renieri A,
Mari F
Nephrol Dial Transplant
2009 May;24(5):1464-71.
Epub 2009 Jan 7
doi: 10.1093/ndt/gfn681.
PMID: 19129241
Lemmink HH,
Schröder CH,
Monnens LA,
Smeets HJ
Hum Mutat
1997;9(6):477-99.
doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#.
PMID: 9195222
Therapy
Chen X,
Yan K,
Gao Y,
Wang H,
Chen G,
Wu B,
Qin Q,
Yang L,
Zhou W
BMC Med Genet
2019 May 30;20(1):93.
doi: 10.1186/s12881-019-0813-z.
PMID: 31146700Free PMC Article
Amudhavalli SM,
Hanson R,
Angle B,
Bontempo K,
Gripp KW
Am J Med Genet A
2018 Jul;176(7):1648-1656.
doi: 10.1002/ajmg.a.38832.
PMID: 30160832
Hedrich CM,
Fiebig B,
Sallmann S,
Bruck N,
Hahn G,
Roesler J,
Roesen-Wolff A,
Heubner G,
Gahr M
Scand J Rheumatol
2008 Sep-Oct;37(5):385-9.
doi: 10.1080/03009740801978889.
PMID: 18609262
Minárik G,
Ferák V,
Feráková E,
Ficek A,
Poláková H,
Kádasi L
Gen Physiol Biophys
2003 Dec;22(4):549-56.
PMID: 15113126
Prognosis
Lachgar-Ruiz M,
Morín M,
Martelletti E,
Ingham NJ,
Preite L,
Lewis MA,
Serrão de Castro LS,
Steel KP,
Moreno-Pelayo MÁ
Dis Model Mech
2023 Aug 1;16(8)
Epub 2023 Aug 17
doi: 10.1242/dmm.049757.
PMID: 37165931Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Grati M,
Yan D,
Raval MH,
Walsh T,
Ma Q,
Chakchouk I,
Kannan-Sundhari A,
Mittal R,
Masmoudi S,
Blanton SH,
Tekin M,
King MC,
Yengo CM,
Liu XZ
Hum Mutat
2016 May;37(5):481-7.
Epub 2016 Feb 16
doi: 10.1002/humu.22961.
PMID: 26841241Free PMC Article
van Beelen E,
Oonk AM,
Leijendeckers JM,
Hoefsloot EH,
Pennings RJ,
Feenstra I,
Dieker HJ,
Huygen PL,
Snik AF,
Kremer H,
Kunst HP
Ear Hear
2016 Jan-Feb;37(1):103-11.
doi: 10.1097/AUD.0000000000000217.
PMID: 26331839
Marcocci E,
Uliana V,
Bruttini M,
Artuso R,
Silengo MC,
Zerial M,
Bergesio F,
Amoroso A,
Savoldi S,
Pennesi M,
Giachino D,
Rombolà G,
Fogazzi GB,
Rosatelli C,
Martinhago CD,
Carmellini M,
Mancini R,
Di Costanzo G,
Longo I,
Renieri A,
Mari F
Nephrol Dial Transplant
2009 May;24(5):1464-71.
Epub 2009 Jan 7
doi: 10.1093/ndt/gfn681.
PMID: 19129241
Clinical prediction guides
Lachgar-Ruiz M,
Morín M,
Martelletti E,
Ingham NJ,
Preite L,
Lewis MA,
Serrão de Castro LS,
Steel KP,
Moreno-Pelayo MÁ
Dis Model Mech
2023 Aug 1;16(8)
Epub 2023 Aug 17
doi: 10.1242/dmm.049757.
PMID: 37165931Free PMC Article
Mei Y,
Zhang H,
Zhang Z
Front Endocrinol (Lausanne)
2022;13:935905.
Epub 2022 Jul 14
doi: 10.3389/fendo.2022.935905.
PMID: 35909573Free PMC Article
Li Q,
Zhao Z,
Wu B,
Pang Q,
Cui L,
Zhang L,
Jiang Y,
Wang O,
Li M,
Xing X,
Hu Y,
Yu W,
Meng X,
Jiajue R,
Xia W
J Bone Miner Res
2022 Jan;37(1):78-86.
Epub 2021 Sep 28
doi: 10.1002/jbmr.4436.
PMID: 34490910
Nakanishi H,
Kawashima Y,
Kurima K,
Chae JJ,
Ross AM,
Pinto-Patarroyo G,
Patel SK,
Muskett JA,
Ratay JS,
Chattaraj P,
Park YH,
Grevich S,
Brewer CC,
Hoa M,
Kim HJ,
Butman JA,
Broderick L,
Hoffman HM,
Aksentijevich I,
Kastner DL,
Goldbach-Mansky R,
Griffith AJ
Proc Natl Acad Sci U S A
2017 Sep 12;114(37):E7766-E7775.
Epub 2017 Aug 28
doi: 10.1073/pnas.1702946114.
PMID: 28847925Free PMC Article
Grati M,
Yan D,
Raval MH,
Walsh T,
Ma Q,
Chakchouk I,
Kannan-Sundhari A,
Mittal R,
Masmoudi S,
Blanton SH,
Tekin M,
King MC,
Yengo CM,
Liu XZ
Hum Mutat
2016 May;37(5):481-7.
Epub 2016 Feb 16
doi: 10.1002/humu.22961.
PMID: 26841241Free PMC Article