Etiology
Parlak S,
Gumeler E,
Sennaroglu L,
Ozgen B
Diagn Interv Radiol
2022 Jan;28(1):50-57.
doi: 10.5152/dir.2021.20791.
PMID: 34914607
Nozu K,
Nakanishi K,
Abe Y,
Udagawa T,
Okada S,
Okamoto T,
Kaito H,
Kanemoto K,
Kobayashi A,
Tanaka E,
Tanaka K,
Hama T,
Fujimaru R,
Miwa S,
Yamamura T,
Yamamura N,
Horinouchi T,
Minamikawa S,
Nagata M,
Iijima K
Clin Exp Nephrol
2019 Feb;23(2):158-168.
Epub 2018 Aug 20
doi: 10.1007/s10157-018-1629-4.
PMID: 30128941Free PMC Article
Plevová P,
Gut J,
Janda J
Medicina (Kaunas)
2017;53(1):1-10.
Epub 2017 Jan 31
doi: 10.1016/j.medici.2017.01.002.
PMID: 28236514
Smeds H,
Wales J,
Asp F,
Löfkvist U,
Falahat B,
Anderlid BM,
Anmyr L,
Karltorp E
Otol Neurotol
2017 Jan;38(1):38-46.
doi: 10.1097/MAO.0000000000001253.
PMID: 27779564
Rheault MN
Pediatr Nephrol
2012 Jan;27(1):41-6.
Epub 2011 Mar 5
doi: 10.1007/s00467-011-1836-7.
PMID: 21380623Free PMC Article
Diagnosis
Yang T,
Guo L,
Wang L,
Yu X
Adv Exp Med Biol
2019;1130:73-92.
doi: 10.1007/978-981-13-6123-4_5.
PMID: 30915702
Nozu K,
Nakanishi K,
Abe Y,
Udagawa T,
Okada S,
Okamoto T,
Kaito H,
Kanemoto K,
Kobayashi A,
Tanaka E,
Tanaka K,
Hama T,
Fujimaru R,
Miwa S,
Yamamura T,
Yamamura N,
Horinouchi T,
Minamikawa S,
Nagata M,
Iijima K
Clin Exp Nephrol
2019 Feb;23(2):158-168.
Epub 2018 Aug 20
doi: 10.1007/s10157-018-1629-4.
PMID: 30128941Free PMC Article
Marini JC,
Forlino A,
Bächinger HP,
Bishop NJ,
Byers PH,
Paepe A,
Fassier F,
Fratzl-Zelman N,
Kozloff KM,
Krakow D,
Montpetit K,
Semler O
Nat Rev Dis Primers
2017 Aug 18;3:17052.
doi: 10.1038/nrdp.2017.52.
PMID: 28820180
Plevová P,
Gut J,
Janda J
Medicina (Kaunas)
2017;53(1):1-10.
Epub 2017 Jan 31
doi: 10.1016/j.medici.2017.01.002.
PMID: 28236514
Lenaers G,
Hamel C,
Delettre C,
Amati-Bonneau P,
Procaccio V,
Bonneau D,
Reynier P,
Milea D
Orphanet J Rare Dis
2012 Jul 9;7:46.
doi: 10.1186/1750-1172-7-46.
PMID: 22776096Free PMC Article
Therapy
Umer M,
Motwani M,
Jefferies JL,
Nagueh SF,
Kalra DK
Curr Probl Cardiol
2023 Jan;48(1):101439.
Epub 2022 Oct 4
doi: 10.1016/j.cpcardiol.2022.101439.
PMID: 36202174
Barua M,
John R,
Stella L,
Li W,
Roslin NM,
Sharif B,
Hack S,
Lajoie-Starkell G,
Schwaderer AL,
Becknell B,
Wuttke M,
Köttgen A,
Cattran D,
Paterson AD,
Pei Y
Am J Kidney Dis
2018 Mar;71(3):441-445.
Epub 2017 Dec 1
doi: 10.1053/j.ajkd.2017.09.005.
PMID: 29198386
Moore NA,
Morral N,
Ciulla TA,
Bracha P
Expert Opin Biol Ther
2018 Jan;18(1):37-49.
Epub 2017 Oct 23
doi: 10.1080/14712598.2018.1389886.
PMID: 29057663
Smeds H,
Wales J,
Asp F,
Löfkvist U,
Falahat B,
Anderlid BM,
Anmyr L,
Karltorp E
Otol Neurotol
2017 Jan;38(1):38-46.
doi: 10.1097/MAO.0000000000001253.
PMID: 27779564
Liu XZ,
Xie D,
Yuan HJ,
de Brouwer AP,
Christodoulou J,
Yan D
Int J Audiol
2013 Jan;52(1):23-8.
Epub 2012 Nov 28
doi: 10.3109/14992027.2012.736032.
PMID: 23190330Free PMC Article
Prognosis
Nicklason E,
Mack H,
Beltz J,
Jacob J,
Farahani M,
Colville D,
Savige J
Ophthalmic Genet
2020 Feb;41(1):13-19.
Epub 2020 Mar 11
doi: 10.1080/13816810.2019.1709126.
PMID: 32159412
Yang T,
Guo L,
Wang L,
Yu X
Adv Exp Med Biol
2019;1130:73-92.
doi: 10.1007/978-981-13-6123-4_5.
PMID: 30915702
Nozu K,
Nakanishi K,
Abe Y,
Udagawa T,
Okada S,
Okamoto T,
Kaito H,
Kanemoto K,
Kobayashi A,
Tanaka E,
Tanaka K,
Hama T,
Fujimaru R,
Miwa S,
Yamamura T,
Yamamura N,
Horinouchi T,
Minamikawa S,
Nagata M,
Iijima K
Clin Exp Nephrol
2019 Feb;23(2):158-168.
Epub 2018 Aug 20
doi: 10.1007/s10157-018-1629-4.
PMID: 30128941Free PMC Article
Barua M,
John R,
Stella L,
Li W,
Roslin NM,
Sharif B,
Hack S,
Lajoie-Starkell G,
Schwaderer AL,
Becknell B,
Wuttke M,
Köttgen A,
Cattran D,
Paterson AD,
Pei Y
Am J Kidney Dis
2018 Mar;71(3):441-445.
Epub 2017 Dec 1
doi: 10.1053/j.ajkd.2017.09.005.
PMID: 29198386
Lenaers G,
Hamel C,
Delettre C,
Amati-Bonneau P,
Procaccio V,
Bonneau D,
Reynier P,
Milea D
Orphanet J Rare Dis
2012 Jul 9;7:46.
doi: 10.1186/1750-1172-7-46.
PMID: 22776096Free PMC Article
Clinical prediction guides
Bosman A,
Appelman-Dijkstra NM,
Boot AM,
de Borst MH,
van de Ven AC,
de Jongh RT,
Bökenkamp A,
van den Bergh JP,
van der Eerden BCJ,
Zillikens MC
Calcif Tissue Int
2024 Mar;114(3):255-266.
Epub 2024 Jan 16
doi: 10.1007/s00223-023-01172-2.
PMID: 38226986Free PMC Article
Kim JH,
Lim SH,
Song JY,
Cho MH,
Hyun H,
Yang EM,
Lee JW,
Cho MH,
Park MJ,
Lee JH,
Jung J,
Yoo KH,
Jang KM,
Pai KS,
Suh JS,
Namgoong MK,
Chung WY,
Kim SJ,
Cho EY,
Kim KM,
Kim NH,
Kim M,
Paik JH,
Kang HG,
Ahn YH,
Cheong HI
Sci Rep
2023 Apr 26;13(1):6827.
doi: 10.1038/s41598-023-34053-7.
PMID: 37100867Free PMC Article
Plevová P,
Gut J,
Janda J
Medicina (Kaunas)
2017;53(1):1-10.
Epub 2017 Jan 31
doi: 10.1016/j.medici.2017.01.002.
PMID: 28236514
Smeds H,
Wales J,
Asp F,
Löfkvist U,
Falahat B,
Anderlid BM,
Anmyr L,
Karltorp E
Otol Neurotol
2017 Jan;38(1):38-46.
doi: 10.1097/MAO.0000000000001253.
PMID: 27779564
Humphries P,
Farrar GJ,
Kenna P,
McWilliam P
Clin Genet
1990 Jul;38(1):1-13.
doi: 10.1111/j.1399-0004.1990.tb03541.x.
PMID: 2201466