Etiology
Riza AL,
Alkhzouz C,
Farcaș M,
Pîrvu A,
Miclea D,
Mihuț G,
Pleșea RM,
Ștefan D,
Drodar M,
Lazăr C,
On Behalf Of The Hint Study,
On Behalf Of The Fuse Study,
Ioana M,
Popp R
Genes (Basel)
2022 Dec 26;14(1)
doi: 10.3390/genes14010069.
PMID: 36672810Free PMC Article
Koohiyan M,
Hashemzadeh-Chaleshtori M,
Salehi M,
Abtahi H,
Reiisi S,
Pourreza MR,
Noori-Daloii MR,
Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol
2018 Apr;107:121-126.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.012.
PMID: 29501291
Batissoco AC,
Abreu-Silva RS,
Braga MC,
Lezirovitz K,
Della-Rosa V,
Alfredo T Jr,
Otto PA,
Mingroni-Netto RC
Ear Hear
2009 Feb;30(1):1-7.
doi: 10.1097/AUD.0b013e31819144ad.
PMID: 19125024
Utrera R,
Ridaura V,
Rodríguez Y,
Rojas MJ,
Mago L,
Angeli S,
Henríquez O
Genet Test
2007 Winter;11(4):347-52.
doi: 10.1089/gte.2006.0526.
PMID: 18294049
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
Souissi A,
Ben Said M,
Ben Ayed I,
Elloumi I,
Bouzid A,
Mosrati MA,
Hasnaoui M,
Belcadhi M,
Idriss N,
Kamoun H,
Gharbi N,
Gibriel AA,
Tlili A,
Masmoudi S
J Adv Res
2021 Jul;31:13-24.
Epub 2021 Jan 12
doi: 10.1016/j.jare.2021.01.005.
PMID: 34194829Free PMC Article
Sommen M,
Schrauwen I,
Vandeweyer G,
Boeckx N,
Corneveaux JJ,
van den Ende J,
Boudewyns A,
De Leenheer E,
Janssens S,
Claes K,
Verstreken M,
Strenzke N,
Predöhl F,
Wuyts W,
Mortier G,
Bitner-Glindzicz M,
Moser T,
Coucke P,
Huentelman MJ,
Van Camp G
Hum Mutat
2016 Aug;37(8):812-9.
Epub 2016 May 6
doi: 10.1002/humu.22999.
PMID: 27068579
Zhao J,
Yuan Y,
Huang S,
Huang B,
Cheng J,
Kang D,
Wang G,
Han D,
Dai P
PLoS One
2014;9(11):e108134.
Epub 2014 Nov 5
doi: 10.1371/journal.pone.0108134.
PMID: 25372295Free 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
Zeviani M,
Tiranti V,
Piantadosi C
Medicine (Baltimore)
1998 Jan;77(1):59-72.
doi: 10.1097/00005792-199801000-00006.
PMID: 9465864
Therapy
Grillo AP,
de Oliveira FM,
de Carvalho GQ,
Medrano RF,
da Silva-Costa SM,
Sartorato EL,
de Oliveira CA
Biomed Res Int
2015;2015:318727.
Epub 2015 May 17
doi: 10.1155/2015/318727.
PMID: 26075227Free PMC Article
Prognosis
Vaché C,
Baux D,
Bianchi J,
Baudoin C,
Faugère V,
Francannet C,
Koenig M,
Kalatzis V,
Roux AF
Eur J Hum Genet
2022 Jan;30(1):34-41.
Epub 2021 Dec 3
doi: 10.1038/s41431-021-01010-9.
PMID: 34857896Free PMC Article
Qu R,
Sang Q,
Xu Y,
Feng R,
Jin L,
He L,
Wang L
Int J Pediatr Otorhinolaryngol
2016 May;84:43-7.
Epub 2016 Mar 5
doi: 10.1016/j.ijporl.2016.02.036.
PMID: 27063751
Woo HM,
Park HJ,
Park MH,
Kim BY,
Shin JW,
Yoo WG,
Koo SK
BMC Med Genet
2014 Apr 28;15:46.
doi: 10.1186/1471-2350-15-46.
PMID: 24767429Free PMC Article
Diaz-Horta O,
Duman D,
Foster J 2nd,
Sırmacı A,
Gonzalez M,
Mahdieh N,
Fotouhi N,
Bonyadi M,
Cengiz FB,
Menendez I,
Ulloa RH,
Edwards YJ,
Züchner S,
Blanton S,
Tekin M
PLoS One
2012;7(11):e50628.
Epub 2012 Nov 30
doi: 10.1371/journal.pone.0050628.
PMID: 23226338Free PMC Article
Clinical prediction guides
Koohiyan M,
Hashemzadeh-Chaleshtori M,
Salehi M,
Abtahi H,
Reiisi S,
Pourreza MR,
Noori-Daloii MR,
Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol
2018 Apr;107:121-126.
Epub 2018 Jan 31
doi: 10.1016/j.ijporl.2018.01.012.
PMID: 29501291
Lebeko K,
Bosch J,
Noubiap JJ,
Dandara C,
Wonkam A
Pan Afr Med J
2015;20:383.
Epub 2015 Apr 17
doi: 10.11604/pamj.2015.20.383.5230.
PMID: 26185573Free PMC Article
Diaz-Horta O,
Duman D,
Foster J 2nd,
Sırmacı A,
Gonzalez M,
Mahdieh N,
Fotouhi N,
Bonyadi M,
Cengiz FB,
Menendez I,
Ulloa RH,
Edwards YJ,
Züchner S,
Blanton S,
Tekin M
PLoS One
2012;7(11):e50628.
Epub 2012 Nov 30
doi: 10.1371/journal.pone.0050628.
PMID: 23226338Free PMC Article
Dodson KM,
Blanton SH,
Welch KO,
Norris VW,
Nuzzo RL,
Wegelin JA,
Marin RS,
Nance WE,
Pandya A,
Arnos KS
Am J Med Genet A
2011 May;155A(5):993-1000.
Epub 2011 Apr 4
doi: 10.1002/ajmg.a.33828.
PMID: 21465647Free PMC Article
Ramzan K,
Shaikh RS,
Ahmad J,
Khan SN,
Riazuddin S,
Ahmed ZM,
Friedman TB,
Wilcox ER,
Riazuddin S
Hum Genet
2005 Jan;116(1-2):17-22.
Epub 2004 Nov 6
doi: 10.1007/s00439-004-1205-8.
PMID: 15538632