A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.
Hassan MA, Shah AA, Szmida E, Smigiel R, Sasiadek MM, Pfister M, Blin N, Bress A.
J Appl Genet. 2015 Aug;56(3):311-6.

[Personalized molecular medicine: new paradigms in the treatment of cochlear implant and cancer patients].
Zenner HP, Pfister M, Friese N, Zrenner E, Röcken M.
HNO. 2014 Jul;62(7):520-4.

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.
Ealy M, Meyer NC, Corchado JC, Schrauwen I, Bress A, Pfister M, Van Camp G, Smith RJ.
Otol Neurotol. 2014 Mar;35(3):395-400.

Autonomous functions of murine thyroid hormone receptor TRα and TRβ in cochlear hair cells.
Dettling J, Franz C, Zimmermann U, Lee SC, Bress A, Brandt N, Feil R, Pfister M, Engel J, Flamant F, Rüttiger L, Knipper M.
Mol Cell Endocrinol. 2014 Jan 25;382(1):26-37.

Familial aggregation of pure tone hearing thresholds in an aging European population.
Hendrickx JJ, Huyghe JR, Topsakal V, Demeester K, Wienker TF, Laer LV, Eyken EV, Fransen E, Mäki-Torkko E, Hannula S, Parving A, Jensen M, Tropitzsch A, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen PL, Kremer H, Kunst SJ, Diaz-Lacava AN, Steffens M, Pyykkö I, Dhooge I, Stephens D, Orzan E, Pfister MH, Bille M, Sorri M, Cremers CW, Camp GV, de Heyning PV.
Otol Neurotol. 2013 Jul;34(5):838-44.

Ergic2, a brain specific interacting partner of Otoferlin.
Żak M, Bress A, Brandt N, Franz C, Ruth P, Pfister M, Knipper M, Blin N.
Cell Physiol Biochem. 2012;29(5-6):941-8.

Feasibility of simultaneous PET/MR imaging in the head and upper neck area.
Boss A, Stegger L, Bisdas S, Kolb A, Schwenzer N, Pfister M, Claussen CD, Pichler BJ, Pfannenberg C.
Eur Radiol. 2011 Jul;21(7):1439-46.

Functional analysis of a novel I71N mutation in the GJB2 gene among Southern Egyptians causing autosomal recessive hearing loss.
Mohamed MR, Alesutan I, Föller M, Sopjani M, Bress A, Baur M, Salama RH, Bakr MS, Mohamed MA, Blin N, Lang F, Pfister M.
Cell Physiol Biochem. 2010;26(6):959-66.

Zak M, Bress A, Pfister M, Blin N
"Temporal expression pattern of fkbp8 in rodent cochlea."
Cell Physiol Biochem28p1023-30(2011)

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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
"GJB2 mutations and degree of hearing loss: a multicenter study."
Am J Hum Genet77p945-57(2005)