Publicações científicas
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.
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.O
tol Neurotol. 2013 Jul;34(5):838-44.
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.
Schrauwen I, Ealy M, Fransen E, Vanderstraeten K, Thys M, Meyer NC, Cosgarea M, Huber A, Mazzoli M, Pfister M, Smith RJ, Van Camp G
"Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations."
Hum Genet127p155-62(2010)
Heidrych P, Zimmermann U, Kuhn S, Franz C, Engel J, Duncker SV, Hirt B, Pusch CM, Ruth P, Pfister M, Marcotti W, Blin N, Knipper M
"Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell."
Hum Mol Genet18p2779-90(2009)
Winter H, Rüttiger L, Müller M, Kuhn S, Brandt N, Zimmermann U, Hirt B, Bress A, Sausbier M, Conscience A, Flamant F, Tian Y, Zuo J, Pfister M, Ruth P, Löwenheim H, Samarut J, Engel J, Knipper M
"Deafness in TRbeta mutants is caused by malformation of the tectorial membrane."
J Neurosci29p2581-7(2009)
Friedman RA, Van Laer L, Huentelman MJ, Sheth SS, Van Eyken E, Corneveaux JJ, Tembe WD, Halperin RF, Thorburn AQ, Thys S, Bonneux S, Fransen E, Huyghe J, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Makmura L, Ohmen JD, Linthicum FH Jr, Fayad JN, Pearson JV, Craig DW, Stephan DA, Van Camp G
"GRM7 variants confer susceptibility to age-related hearing impairment."
Hum Mol Genet18p785-96(2009)
Huyghe JR, Van Laer L, Hendrickx JJ, Fransen E, Demeester K, Topsakal V, Kunst S, Manninen M, Jensen M, Bonaconsa A, Mazzoli M, Baur M, Hannula S, Mäki-Torkko E, Espeso A, Van Eyken E, Flaquer A, Becker C, Stephens D, Sorri M, Orzan E, Bille M, Parving A, Pyykkö I, Cremers CW, Kremer H, Van de Heyning PH, Wienker TF, Nürnberg P, Pfister M, Van Camp G
"Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait."
Am J Hum Genet83p401-7(2008)
Heidrych P, Zimmermann U, Bress A, Pusch CM, Ruth P, Pfister M, Knipper M, Blin N
"Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form."
Hum Mol Genet17p3814-21(2008)
Van Laer L, Van Eyken E, Fransen E, Huyghe JR, Topsakal V, Hendrickx JJ, Hannula S, Mäki-Torkko E, Jensen M, Demeester K, Baur M, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen P, Kunst S, Manninen M, Konings A, Diaz-Lacava AN, Steffens M, Wienker TF, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Van Camp G
"The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment."
Hum Mol Genet17p159-69(2008)
Lubka M, Müller M, Baus-Loncar M, Hinz M, Blaschke K, Hoffmann W, Pfister M, Löwenheim H, Pusch CM, Knipper M, Blin N
"Lack of Tff3 peptide results in hearing impairment and accelerated presbyacusis."
Cell Physiol Biochem21p437-44(2008)
Fransen E, Topsakal V, Hendrickx JJ, Van Laer L, Huyghe JR, Van Eyken E, Lemkens N, Hannula S, Mäki-Torkko E, Jensen M, Demeester K, Tropitzsch A, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen PL, Kunst S, Manninen M, Diaz-Lacava A, Steffens M, Wienker TF, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning P, Van Camp G
"Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study."
J Assoc Res Otolaryngol9p264-76; discussion 261-3(2008)
Huyghe JR, Van Laer L, Hendrickx JJ, Fransen E, Demeester K, Topsakal V, Kunst S, Manninen M, Jensen M, Bonaconsa A, Mazzoli M, Baur M, Hannula S, Mäki-Torkko E, Espeso A, Van Eyken E, Flaquer A, Becker C, Stephens D, Sorri M, Orzan E, Bille M, Parving A, Pyykkö I, Cremers CW, Kremer H, Van de Heyning PH, Wienker TF, Nürnberg P, Pfister M, Van Camp G
"Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait."
Am J Hum Genet83p401-7(2008)
Hendrickx JJ, Huyghe JR, Demeester K, Topsakal V, Van Eyken E, Fransen E, Mäki-Torkko E, Hannula S, Jensen M, Tropitzsch A, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen PL, Kremer H, Kunst SJ, Manninen M, Diaz-Lacava AN, Steffens M, Parving A, Pyykkö I, Dhooge I, Stephens D, Orzan E, Pfister MH, Bille M, Sorri M, Cremers CW, Van Laer L, Van Camp G, Wienker TF, Van de Heyning P
"Familial aggregation of tinnitus: a European multicentre study."
B-ENT3 Suppl 7p51-60(2007)
Van Eyken E, Van Laer L, Fransen E, Topsakal V, Hendrickx JJ, Demeester K, Van de Heyning P, Mäki-Torkko E, Hannula S, Sorri M, Jensen M, Parving A, Bille M, Baur M, Pfister M, Bonaconsa A, Mazzoli M, Orzan E, Espeso A, Stephens D, Verbruggen K, Huyghe J, Dhooge I, Huygen P, Kremer H, Cremers C, Kunst S, Manninen M, Pyykkö I, Rajkowska E, Pawelczyk M, Sliwinska-Kowalska M, Steffens M, Wienker T, Van Camp G
"The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss."
Otol Neurotol28p970-5(2007)
Van Eyken E, Van Camp G, Fransen E, Topsakal V, Hendrickx JJ, Demeester K, Van de Heyning P, Mäki-Torkko E, Hannula S, Sorri M, Jensen M, Parving A, Bille M, Baur M, Pfister M, Bonaconsa A, Mazzoli M, Orzan E, Espeso A, Stephens D, Verbruggen K, Huyghe J, Dhooge I, Huygen P, Kremer H, Cremers CW, Kunst S, Manninen M, Pyykkö I, Lacava A, Steffens M, Wienker TF, Van Laer L
"Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment."
J Med Genet44p570-8(2007)
Frey A, Lampert A, Waldegger S, Jeck N, Waldegger P, Artunc F, Seebohm G, Lang UE, Kupka S, Pfister M, Hoppe J, Gerloff C, Schaeffeler E, Schwab M, Lang F
"Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds."
Hear Res214p68-75(2006)
Vrijens K, Thys S, De Jeu MT, Postnov AA, Pfister M, Cox L, Zwijsen A, Van Hoof V, Mueller M, De Clerck NM, De Zeeuw CI, Van Camp G, Van Laer L
"Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome."
Neurobiol Dis24p28-40(2006)
Maassen MM, Löwenheim H, Pfister M, Herberhold S, Jorge JR, Baumann I, Nüsser A, Zimmermann R, Brosch S, Zenner HP
"Surgical-handling properties of the titanium prosthesis in ossiculoplasty."
Ear Nose Throat J84p142-4, 147-9(2005)
Van Laer L, Pfister M, Thys S, Vrijens K, Mueller M, Umans L, Serneels L, Van Nassauw L, Kooy F, Smith RJ, Timmermans JP, Van Leuven F, Van Camp G
"Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells."
Neurobiol Dis19p386-99(2005)
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A
"Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)."
Am J Hum Genet74p770-6(2004)
Maassen MM, Rodriguez Jorge J, Herberhold S, Vonthein R, Zimmermann R, Baumann I, Brosch S, Mauz PS, Pfister M, Zalaman IM, Löwenheim H, Zenner HP
"Safe and reliable sound threshold measures with direct vibration of the ossicular chain."
Laryngoscope114p2012-20(2004)
Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nürnberg P, Ozkarakas H, Kupka S
"A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations."
Cell Physiol Biochem14p369-76(2004)
Rüttiger L, Sausbier M, Zimmermann U, Winter H, Braig C, Engel J, Knirsch M, Arntz C, Langer P, Hirt B, Müller M, Köpschall I, Pfister M, Münkner S, Rohbock K, Pfaff I, Rüsch A, Ruth P, Knipper M
"Deletion of the Ca2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing loss."
Proc Natl Acad Sci U S A101p12922-7(2004)
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)
Cryns K, Thys S, Van Laer L, Oka Y, Pfister M, Van Nassauw L, Smith RJ, Timmermans JP, Van Camp G
"The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells."
Histochem Cell Biol119p247-56(2003)
Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G
"Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations."
Hum Genet110p389-94(2002)
Kupka S, Tóth T, Wróbel M, Zeissler U, Szyfter W, Szyfter K, Niedzielska G, Bal J, Zenner HP, Sziklai I, Blin N, Pfister M
"Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients."
Hum Mutat19p308-9(2002)
Mirghomizadeh F, Bardtke B, Devoto M, Pfister M, Oeken J, König E, Vitale E, Riccio A, De Rienzo A, Zenner HP, Blin N
"Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation."
Eur J Hum Genet10p95-9(2002)
Szyfter W, Pruszewicz A, Zenner HP, Pfister M, Szyfter K, Blin N, Wróbel M, Łaczkowska J, Gawlak A, Kupka S, Sekula A
"[An attempt to identify the most frequent genomic mutations responsible for isolated deafness in patients after cochlear implantation]."
Otolaryngol Pol55p79-84(2001)
Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner HP, Vitale E
"A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9."
Eur J Hum Genet6p341-4(1998)
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