Scientific publications - HNO Sarnen

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Scientific publications Prof. Pfister

Intralabyrinthine schwannomas : Surgical management and hearing rehabilitation with cochlear implants.

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)

Zak M, Pfister M, Blin N
"The otoferlin interactome in neurosensory hair cells: significance for synaptic vesicle release and trans-Golgi network (Review)."
Int J Mol Med28p311-4(2011)

Lubka-Pathak M, Shah AA, Gallozzi M, Müller M, Zimmermann U, Löwenheim H, Pfister M, Knipper M, Blin N, Schimmang T
"Altered expression of securin (Pttg1) and serpina3n in the auditory system of hearing-impaired Tff3-deficient mice."
Cell Mol Life Scip(2010)

Xia A, Gao SS, Yuan T, Osborn A, Bress A, Pfister M, Maricich SM, Pereira FA, Oghalai JS
"Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation."
Dis Model Mech3p209-23(2010)

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)

Seeliger MW, Fischer MD, Pfister M
"[Usher syndrome: clinical features, diagnostic options, and therapeutic prospects]."
Ophthalmologe106p505-11(2009)

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)

Baur M, Fransen E, Tropitzsch A, van Laer L, Mauz PS, Van Camp G, Blin N, Pfister M
"[Influence of exogenic factors on age-related hearing impairment]."
HNO57p1023-8(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)

Brosch S, Rauffeisen A, Baur M, Michels L, Trefz FK, Pfister M
"[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]."
HNO56p37-42(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)

Brosch S, Baur M, Blin N, Reinert S, Pfister M
"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome."
Int J Mol Med20p85-9(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)

Chen W, Meyer NC, McKenna MJ, Pfister M, McBride DJ Jr, Fukushima K, Thys M, Camp GV, Smith RJ
"Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis."
Clin Genet71p406-14(2007)

Nguyen-Huynh AT, Jackler RK, Pfister M, Tseng J
"The aborted early history of the translabyrinthine approach: a victim of suppression or technical prematurity?"
Otol Neurotol28p269-79(2007)

Palmada M, Schmalisch K, Böhmer C, Schug N, Pfister M, Lang F, Blin N
"Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment."
Neurobiol Dis22p112-8(2006)

Rodriguez Jorge J, Pfister M, Zenner HP, Zalaman IM, Maassen MM
"In vitro model for intraoperative adjustments in an implantable hearing aid (MET)."
Laryngoscope116p473-81(2006)

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)

Zenner HP, Pfister M, Birbaumer N
"Tinnitus sensitization: Sensory and psychophysiological aspects of a new pathway of acquired centralization of chronic tinnitus."
Otol Neurotol27p1054-63(2006)

Nguyen-Huynh AT, Jackler RK, Pfister M, Tseng J
"The aborted early history of the translabyrinthine approach: a victim of suppression or technical prematurity?"
Otol Neurotol28p269-79(2007)

Pfister MH, Jackler RK, Kunda L
"Aggressiveness in cholesterol granuloma of the temporal bone may be determined by the vigor of its blood source."
Otol Neurotol28p232-5(2007)

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)

Schulte C, Geisthoff U, Lux A, Kupka S, Zenner HP, Blin N, Pfister M
"High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients."
Hum Mutat25p595(2005)

Tóth T, Pfister M, Zenner HP, Sziklai I
"Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment."
Int J Pediatr Otorhinolaryngol70p201-6(2006)

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)

Yang T, Pfister M, Blin N, Zenner HP, Pusch CM, Smith RJ
"Genetic heterogeneity of deafness phenotypes linked to DFNA4."
Am J Med Genet A139p9-12(2005)

Pfister M
"[Molecular genetic aspects in otorhinolaryngology]."
HNO50p791-3(2002)

Apaydin F, Bereketoglu M, Turan O, Hribar K, Maassen MM, Günhan O, Zenner HP, Pfister M
"[Waardenburg syndrome. A heterogenic disorder with variable penetrance]."
HNO52p533-7(2004)

Braun S, Riemann K, Pusch CM, Sotlar K, Pfister M, Kupka S
"[Paraganglioma in the area of the head and neck. A review of molecular genetic research]."
HNO52p11-7(2004)

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)

Haack B, Kupka S, Ebauer M, Siemiatkowska A, Pfister M, Kwiatkowska J, Ereciński J, Limon J, Ochman K, Blin N
"Analysis of candidate genes for genotypic diagnosis in the long QT syndrome."
J Appl Genet45p375-81(2004)

Inserra MM, Pfister M, Jackler RK
"Anatomy involved in the jugular foramen approach for jugulotympanic paraganglioma resection."
Neurosurg Focus17pE6(2004)

Kupka S, Bodden-Kamps B, Baur M, Zenner HP, Pfister M
"[Mitochondrial A1555G mutation. Molecular genetic diagnosis in sporadic cases of non-syndromic hearing impairment]."
HNO52p968-72(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)

Pusch CM, Meyer B, Kupka S, Smith RJ, Lalwani AK, Zenner HP, Blin N, Nürnberg P, Pfister M
"Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33."
J Mol Med82p398-402(2004)

Riemann K, Sotlar K, Kupka S, Braun S, Zenner HP, Preyer S, Pfister M, Pusch CM, Blin N
"Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases."
Cancer Genet Cytogenet150p128-35(2004)

Riemann K, Pfister M, Blin N, Kupka S
"[Mitochondrial hearing impairment. Background, genetic predisposition and possibilities for diagnosis]."
HNO52p503-9(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)

Tóth T, Pfister M, Zenner HP, Sziklai I
"Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment."
Int J Pediatr Otorhinolaryngol70p201-6(2006)

Azarschab P, Stembalska A, Loncar MB, Pfister M, Sasiadek MM, Blin N
"Epigenetic control of E-cadherin (CDH1) by CpG methylation in metastasising laryngeal cancer."
Oncol Rep10p501-3(2003)

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)

Mirghomizadeh F, Pfister M, Blin N, Pusch CM
"Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene."
Int J Mol Med11p63-4(2003)

Oh N, Kupka S, Mirghomizadeh F, Arold R, Zimmermann R, Blin N, Zenner HP, Pfister M
"[Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3)]."
HNO51p629-33(2003)

Pfister M
"Selected resources for hereditary hearing impairment on the world wide web."
Ear Hear24p349-50(2003)

Pfister MH, Rehm HL
"Glossary for hereditary hearing impairment."
Ear Hear24p260-5(2003)

Pfister M, Akyildiz S, Gunhan O, Maassen M, Rodriguez JJ, Zenner HP, Apaydin F
"A patient database application for Hereditary Deafness Epidemiology and Clinical Research (H.E.A.R.): an effort for standardization in multiple languages."
Eur Arch Otorhinolaryngol260p81-5(2003)

Tóth T, Kupka S, Sziklai I, Blin N, Zenner HP, Pfister M
"[Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene]."
HNO51p400-4(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, Braun S, Aberle S, Haack B, Ebauer M, Zeissler U, Zenner HP, Blin N, Pfister M
"Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment."
Hum Mutat20p77-8(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)

Maassen MM, Pfister M, Plontke S, Koitschev A, Vögler A, Löwenheim H
"[Recovery of hearing: results of delayed medical treatment in patients with idiopathic sudden hearing loss]."
HNO50p1062-7(2002)

Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP, Blin N
"Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness."
Neurobiol Dis10p157-64(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)

Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S
"A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10."
Mol Med8p607-11(2002)

Pfister M
"[Molecular genetic aspects in otorhinolaryngology]."
HNO50p791-3(2002)

Pfister MH, Lalwani AK
"Clinical phenotype of DFN2, DFN4 and DFN6."
Adv Otorhinolaryngol61p168-71(2002)

Tóth T, Kupka S, Blin N, Pfister M, Sziklai I
"[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary]."
Orv Hetil143p2285-9(2002)

Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK
"Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)."
Hum Mutat18p42-51(2001)

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)

Tóth T, Kupka S, Esmer H, Zeissler U, Sziklai I, Zenner HP, Blin N, Pfister M
"Frequency of the recessive 30delG mutation in the GJB2 gene in Northeast-Hungarian individuals and patients with hearing impairment."
Int J Mol Med8p189-92(2001)

Seeliger M, Pfister M, Gendo K, Paasch S, Apfelstedt-Sylla E, Plinkert P, Zenner HP, Zrenner E
"Comparative study of visual, auditory, and olfactory function in Usher syndrome."
Graefes Arch Clin Exp Ophthalmol237p301-7(1999)

Wareing M, Mhatre AN, Pettis R, Han JJ, Haut T, Pfister MH, Hong K, Zheng WW, Lalwani AK
"Cationic liposome mediated transgene expression in the guinea pig cochlea."
Hear Res128p61-9(1999)

Kupka S, Mirghomizadeh F, Haug T, Braun S, Leistenschneider P, Schmitz-Salue C, Arold R, Blin N, Zenner HP, Pfister M
"[Mutational analysis of the connexin26 gene in sporadic cases of moderate to profound deafness]."
HNO48p671-4(2000)

Pfister MH, Apaydin F, Turan O, Bereketoglu M, Bilgen V, Braendle U, Kose S, Zenner HP, Lalwani AK
"Clinical evidence for dystrophin dysfunction as a cause of hearing loss in locus DFN4."
Laryngoscope109p730-5(1999)

Apaydin F, Pfister M, Iber M, Kandogan T, Leal SM, Brändle U, Cura O, Zenner HP
"[Hereditary deafness in Turkey. Initial results]."
HNO46p809-14(1998)

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)

Pfister M
"[New molecular genetic knowledge on development of hereditary deafness]."
HNO46p782-4(1998)

Pfister MH, Apaydin F, Turan O, Bereketoglu M, Bylgen V, Braendle U, Zenner HP, Lalwani AK
"A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD."
Genomics53p377-82(1998)

Pfister M, Maier H, Gummer AW, Preyer S
"[In vivo cochleoscopy through the round window]."
HNO45p216-21(1997)

Preyer S, Hemmert W, Pfister M, Zenner HP, Gummer AW
"Frequency response of mature guinea-pig outer hair cells to stereociliary displacement."
Hear Res77p116-24(1994)

Preyer S, Pfister M, Hemmert W"Mechanical stimulation of isolated outer hair cells as a test system. Inhibition of transduction by streptomycin treatment]."HNO41p471-4(1993)

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