Etiology
Bryant D,
Pauzuolyte V,
Ingham NJ,
Patel A,
Pagarkar W,
Anderson LA,
Smith KE,
Moulding DA,
Leong YC,
Jafree DJ,
Long DA,
Al-Yassin A,
Steel KP,
Jagger DJ,
Forge A,
Berger W,
Sowden JC,
Bitner-Glindzicz M
JCI Insight
2022 Feb 8;7(3)
doi: 10.1172/jci.insight.148586.
PMID: 35132964Free PMC Article
Hsueh CY,
Huang CY,
Yang CF,
Chang CC,
Lin WS,
Cheng HL,
Wu SL,
Cheng YF,
Niu DM
Orphanet J Rare Dis
2021 Aug 5;16(1):348.
doi: 10.1186/s13023-021-01817-1.
PMID: 34353347Free PMC Article
Srivastava S,
D'Amore A,
Cohen JS,
Swanson LC,
Ricca I,
Pini A,
Fatemi A,
Ebrahimi-Fakhari D,
Santorelli FM
Ann Clin Transl Neurol
2020 Apr;7(4):573-578.
Epub 2020 Mar 8
doi: 10.1002/acn3.51007.
PMID: 32147972Free PMC Article
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article
Paparella MM,
Shea D,
Meyerhoff WL,
Goycoolea MV
Laryngoscope
1980 Jul;90(7 Pt 1):1089-98.
doi: 10.1288/00005537-198007000-00003.
PMID: 7392745
Diagnosis
Drovandi S,
Lipska-Ziętkiewicz BS,
Ozaltin F,
Emma F,
Gulhan B,
Boyer O,
Trautmann A,
Ziętkiewicz S,
Xu H,
Shen Q,
Rao J,
Riedhammer KM,
Heemann U,
Hoefele J,
Stenton SL,
Tsygin AN,
Ng KH,
Fomina S,
Benetti E,
Aurelle M,
Prikhodina L,
Schijvens AM,
Tabatabaeifar M,
Jankowski M,
Baiko S,
Mao J,
Feng C,
Deng F,
Rousset-Rouviere C,
Stańczyk M,
Bałasz-Chmielewska I,
Fila M,
Durkan AM,
Levart TK,
Dursun I,
Esfandiar N,
Haas D,
Bjerre A,
Anarat A,
Benz MR,
Talebi S,
Hooman N,
Ariceta G;
PodoNet Consortium;
mitoNET Consortium;
CCGKDD Consortium,
Schaefer F
Kidney Int
2022 Sep;102(3):592-603.
Epub 2022 Apr 26
doi: 10.1016/j.kint.2022.02.040.
PMID: 35483523
Bryant D,
Pauzuolyte V,
Ingham NJ,
Patel A,
Pagarkar W,
Anderson LA,
Smith KE,
Moulding DA,
Leong YC,
Jafree DJ,
Long DA,
Al-Yassin A,
Steel KP,
Jagger DJ,
Forge A,
Berger W,
Sowden JC,
Bitner-Glindzicz M
JCI Insight
2022 Feb 8;7(3)
doi: 10.1172/jci.insight.148586.
PMID: 35132964Free PMC Article
Hsueh CY,
Huang CY,
Yang CF,
Chang CC,
Lin WS,
Cheng HL,
Wu SL,
Cheng YF,
Niu DM
Orphanet J Rare Dis
2021 Aug 5;16(1):348.
doi: 10.1186/s13023-021-01817-1.
PMID: 34353347Free PMC Article
Ralli M,
Rolesi R,
Anzivino R,
Turchetta R,
Fetoni AR
Acta Otorhinolaryngol Ital
2017 Dec;37(6):500-508.
doi: 10.14639/0392-100X-1574.
PMID: 29327735Free PMC Article
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article
Therapy
Hsueh CY,
Huang CY,
Yang CF,
Chang CC,
Lin WS,
Cheng HL,
Wu SL,
Cheng YF,
Niu DM
Orphanet J Rare Dis
2021 Aug 5;16(1):348.
doi: 10.1186/s13023-021-01817-1.
PMID: 34353347Free PMC Article
Wubben TJ,
Branham KH,
Besirli CG,
Bohnsack BL
Ophthalmic Genet
2018 Oct;39(5):615-618.
Epub 2018 Aug 21
doi: 10.1080/13816810.2018.1509355.
PMID: 30130436
Ralli M,
Rolesi R,
Anzivino R,
Turchetta R,
Fetoni AR
Acta Otorhinolaryngol Ital
2017 Dec;37(6):500-508.
doi: 10.14639/0392-100X-1574.
PMID: 29327735Free PMC Article
Prater SN,
Banugaria SG,
DeArmey SM,
Botha EG,
Stege EM,
Case LE,
Jones HN,
Phornphutkul C,
Wang RY,
Young SP,
Kishnani PS
Genet Med
2012 Sep;14(9):800-10.
Epub 2012 Apr 26
doi: 10.1038/gim.2012.44.
PMID: 22538254Free PMC Article
van Capelle CI,
Goedegebure A,
Homans NC,
Hoeve HL,
Reuser AJ,
van der Ploeg AT
J Inherit Metab Dis
2010 Oct;33(5):597-602.
Epub 2010 Jul 2
doi: 10.1007/s10545-010-9144-0.
PMID: 20596893Free PMC Article
Prognosis
Salvago P,
Immordino A,
Vaccaro D,
Plescia F,
Dispenza F,
Sireci F,
Martines F
Eur Arch Otorhinolaryngol
2024 Jan;281(1):163-170.
Epub 2023 Jul 12
doi: 10.1007/s00405-023-08119-1.
PMID: 37436499
Bryant D,
Pauzuolyte V,
Ingham NJ,
Patel A,
Pagarkar W,
Anderson LA,
Smith KE,
Moulding DA,
Leong YC,
Jafree DJ,
Long DA,
Al-Yassin A,
Steel KP,
Jagger DJ,
Forge A,
Berger W,
Sowden JC,
Bitner-Glindzicz M
JCI Insight
2022 Feb 8;7(3)
doi: 10.1172/jci.insight.148586.
PMID: 35132964Free PMC Article
Keshavan N,
Abdenur J,
Anderson G,
Assouline Z,
Barcia G,
Bouhikbar L,
Chakrapani A,
Cleary M,
Cohen MC,
Feillet F,
Fratter C,
Hauser N,
Jacques T,
Lam A,
McCullagh H,
Phadke R,
Rötig A,
Sharrard M,
Simon M,
Smith C,
Sommerville EW,
Taylor RW,
Yue WW,
Rahman S
Genet Med
2020 Jan;22(1):199-209.
Epub 2019 Aug 29
doi: 10.1038/s41436-019-0613-z.
PMID: 31462754
Wubben TJ,
Branham KH,
Besirli CG,
Bohnsack BL
Ophthalmic Genet
2018 Oct;39(5):615-618.
Epub 2018 Aug 21
doi: 10.1080/13816810.2018.1509355.
PMID: 30130436
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article
Clinical prediction guides
Drovandi S,
Lipska-Ziętkiewicz BS,
Ozaltin F,
Emma F,
Gulhan B,
Boyer O,
Trautmann A,
Ziętkiewicz S,
Xu H,
Shen Q,
Rao J,
Riedhammer KM,
Heemann U,
Hoefele J,
Stenton SL,
Tsygin AN,
Ng KH,
Fomina S,
Benetti E,
Aurelle M,
Prikhodina L,
Schijvens AM,
Tabatabaeifar M,
Jankowski M,
Baiko S,
Mao J,
Feng C,
Deng F,
Rousset-Rouviere C,
Stańczyk M,
Bałasz-Chmielewska I,
Fila M,
Durkan AM,
Levart TK,
Dursun I,
Esfandiar N,
Haas D,
Bjerre A,
Anarat A,
Benz MR,
Talebi S,
Hooman N,
Ariceta G;
PodoNet Consortium;
mitoNET Consortium;
CCGKDD Consortium,
Schaefer F
Kidney Int
2022 Sep;102(3):592-603.
Epub 2022 Apr 26
doi: 10.1016/j.kint.2022.02.040.
PMID: 35483523
Hsueh CY,
Huang CY,
Yang CF,
Chang CC,
Lin WS,
Cheng HL,
Wu SL,
Cheng YF,
Niu DM
Orphanet J Rare Dis
2021 Aug 5;16(1):348.
doi: 10.1186/s13023-021-01817-1.
PMID: 34353347Free PMC Article
Sakaguchi Y,
Yoshihashi H,
Uehara T,
Miyama S,
Kosaki K,
Takenouchi T
Am J Med Genet A
2021 Mar;185(3):884-888.
Epub 2020 Dec 27
doi: 10.1002/ajmg.a.62020.
PMID: 33369122
Yaramis A
Med Hypotheses
2020 Sep;142:109796.
Epub 2020 Apr 30
doi: 10.1016/j.mehy.2020.109796.
PMID: 32388477
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article