Etiology
Tropitzsch A,
Schade-Mann T,
Gamerdinger P,
Dofek S,
Schulte B,
Schulze M,
Battke F,
Fehr S,
Biskup S,
Heyd A,
Müller M,
Löwenheim H,
Vona B,
Holderried M
Ear Hear
2022 May/Jun;43(3):1049-1066.
doi: 10.1097/AUD.0000000000001159.
PMID: 34753855Free PMC Article
Vanniya S P,
Chandru J,
Pavithra A,
Jeffrey JM,
Kalaimathi M,
Ramakrishnan R,
Karthikeyen NP,
C R Srikumari S
Ann Hum Genet
2018 Mar;82(2):119-126.
Epub 2017 Nov 17
doi: 10.1111/ahg.12228.
PMID: 29148562
Xiong Y,
Zhong M,
Chen J,
Yan YL,
Lin XF,
Li X
Genet Mol Res
2017 Feb 8;16(1)
doi: 10.4238/gmr16019165.
PMID: 28198501
Snoeckx RL,
Huygen PL,
Feldmann D,
Marlin S,
Denoyelle F,
Waligora J,
Mueller-Malesinska M,
Pollak A,
Ploski R,
Murgia A,
Orzan E,
Castorina P,
Ambrosetti U,
Nowakowska-Szyrwinska E,
Bal J,
Wiszniewski W,
Janecke AR,
Nekahm-Heis D,
Seeman P,
Bendova O,
Kenna MA,
Frangulov A,
Rehm HL,
Tekin M,
Incesulu A,
Dahl HH,
du Sart D,
Jenkins L,
Lucas D,
Bitner-Glindzicz M,
Avraham KB,
Brownstein Z,
del Castillo I,
Moreno F,
Blin N,
Pfister M,
Sziklai I,
Toth T,
Kelley PM,
Cohn ES,
Van Maldergem L,
Hilbert P,
Roux AF,
Mondain M,
Hoefsloot LH,
Cremers CW,
Löppönen T,
Löppönen H,
Parving A,
Gronskov K,
Schrijver I,
Roberson J,
Gualandi F,
Martini A,
Lina-Granade G,
Pallares-Ruiz N,
Correia C,
Fialho G,
Cryns K,
Hilgert N,
Van de Heyning P,
Nishimura CJ,
Smith RJ,
Van Camp G
Am J Hum Genet
2005 Dec;77(6):945-57.
Epub 2005 Oct 19
doi: 10.1086/497996.
PMID: 16380907Free PMC Article
Diagnosis
Tropitzsch A,
Schade-Mann T,
Gamerdinger P,
Dofek S,
Schulte B,
Schulze M,
Battke F,
Fehr S,
Biskup S,
Heyd A,
Müller M,
Löwenheim H,
Vona B,
Holderried M
Ear Hear
2022 May/Jun;43(3):1049-1066.
doi: 10.1097/AUD.0000000000001159.
PMID: 34753855Free PMC Article
Van Heurck R,
Carminho-Rodrigues MT,
Ranza E,
Stafuzza C,
Quteineh L,
Gehrig C,
Hammar E,
Guipponi M,
Abramowicz M,
Senn P,
Guinand N,
Cao-Van H,
Paoloni-Giacobino A
Genes (Basel)
2021 Aug 20;12(8)
doi: 10.3390/genes12081277.
PMID: 34440452Free PMC Article
Park HR,
Kanwal S,
Lim SO,
Nam DE,
Choi YJ,
Chung KW
Mol Biol Rep
2020 Dec;47(12):9979-9985.
Epub 2020 Dec 2
doi: 10.1007/s11033-020-06037-7.
PMID: 33269433
Seco CZ,
Oonk AM,
Domínguez-Ruiz M,
Draaisma JM,
Gandía M,
Oostrik J,
Neveling K,
Kunst HP,
Hoefsloot LH,
del Castillo I,
Pennings RJ,
Kremer H,
Admiraal RJ,
Schraders M
Eur J Hum Genet
2015 Feb;23(2):189-94.
Epub 2014 Apr 30
doi: 10.1038/ejhg.2014.83.
PMID: 24781754Free PMC Article
Snoeckx RL,
Huygen PL,
Feldmann D,
Marlin S,
Denoyelle F,
Waligora J,
Mueller-Malesinska M,
Pollak A,
Ploski R,
Murgia A,
Orzan E,
Castorina P,
Ambrosetti U,
Nowakowska-Szyrwinska E,
Bal J,
Wiszniewski W,
Janecke AR,
Nekahm-Heis D,
Seeman P,
Bendova O,
Kenna MA,
Frangulov A,
Rehm HL,
Tekin M,
Incesulu A,
Dahl HH,
du Sart D,
Jenkins L,
Lucas D,
Bitner-Glindzicz M,
Avraham KB,
Brownstein Z,
del Castillo I,
Moreno F,
Blin N,
Pfister M,
Sziklai I,
Toth T,
Kelley PM,
Cohn ES,
Van Maldergem L,
Hilbert P,
Roux AF,
Mondain M,
Hoefsloot LH,
Cremers CW,
Löppönen T,
Löppönen H,
Parving A,
Gronskov K,
Schrijver I,
Roberson J,
Gualandi F,
Martini A,
Lina-Granade G,
Pallares-Ruiz N,
Correia C,
Fialho G,
Cryns K,
Hilgert N,
Van de Heyning P,
Nishimura CJ,
Smith RJ,
Van Camp G
Am J Hum Genet
2005 Dec;77(6):945-57.
Epub 2005 Oct 19
doi: 10.1086/497996.
PMID: 16380907Free PMC Article
Therapy
Bindu LH,
Reddy PP
Int J Audiol
2008 Nov;47(11):702-7.
doi: 10.1080/14992020802215862.
PMID: 19031229
Prognosis
Park HR,
Kanwal S,
Lim SO,
Nam DE,
Choi YJ,
Chung KW
Mol Biol Rep
2020 Dec;47(12):9979-9985.
Epub 2020 Dec 2
doi: 10.1007/s11033-020-06037-7.
PMID: 33269433
Clinical prediction guides
Park HR,
Kanwal S,
Lim SO,
Nam DE,
Choi YJ,
Chung KW
Mol Biol Rep
2020 Dec;47(12):9979-9985.
Epub 2020 Dec 2
doi: 10.1007/s11033-020-06037-7.
PMID: 33269433
Seco CZ,
Oonk AM,
Domínguez-Ruiz M,
Draaisma JM,
Gandía M,
Oostrik J,
Neveling K,
Kunst HP,
Hoefsloot LH,
del Castillo I,
Pennings RJ,
Kremer H,
Admiraal RJ,
Schraders M
Eur J Hum Genet
2015 Feb;23(2):189-94.
Epub 2014 Apr 30
doi: 10.1038/ejhg.2014.83.
PMID: 24781754Free PMC Article