P
Patrick L. M. Huygen
Researcher at Radboud University Nijmegen Medical Centre
Publications - 217
Citations - 7122
Patrick L. M. Huygen is an academic researcher from Radboud University Nijmegen Medical Centre. The author has contributed to research in topics: Hearing loss & Audiometry. The author has an hindex of 44, co-authored 214 publications receiving 6610 citations. Previous affiliations of Patrick L. M. Huygen include Radboud University Nijmegen.
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Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
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.
Erik Fransen,Vedat Topsakal,Jan Hendrickx,Lut Van Laer,Jeroen R. Huyghe,Els Van Eyken,Nele Lemkens,Samuli Hannula,Elina Mäki-Torkko,Mona Jensen,Kelly Demeester,Anke Tropitzsch,Amanda Bonaconsa,Manuela Mazzoli,Angeles Espeso,Katia Verbruggen,Joke Huyghe,Patrick L. M. Huygen,Sylvia J. W. Kunst,Minna Manninen,Amalia Diaz-Lacava,Michael Steffens,Thomas F. Wienker,Ilmari Pyykkö,Cor W. R. J. Cremers,Hannie Kremer,Ingeborg Dhooge,Dafydd Stephens,Eva Orzan,Markus Pfister,Michael Bille,Agnete Parving,Martti Sorri,Paul Van de Heyning,Guy Van Camp +34 more
TL;DR: The results suggest that a healthy lifestyle can protect against age-related hearing impairment and smoking significantly increased high-frequency hearing loss, and the effect was dose-dependent.
Journal ArticleDOI
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Kim Cryns,Eva Orzan,Alessandra Murgia,Patrick L. M. Huygen,F Moreno,I del Castillo,G. Parker Chamberlin,Hela Azaiez,Sai Prasad,Robert A. Cucci,Emanuela Leonardi,Rikkert L. Snoeckx,Paul J. Govaerts,P. Van de Heyning,C M Van De Heyning,Richard J.H. Smith,G. Van Camp +16 more
TL;DR: This study is the first large systematic analysis indicating that the GJB2 genotype has a major impact on the degree of hearing impairment, and identifying mild genotypes.
Journal ArticleDOI
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature.
Annet P. M. van den Elzen,Ben A. Semmekrot,Ernie M.H.F. Bongers,Patrick L. M. Huygen,Henri A. M. Marres +4 more
TL;DR: Ophthalmological and fluorescent in situ hybridisation of chromosome 22 investigations should be performed in all patients, as soon as the diagnosis of PRS is established, because 33% of patients with Pierre Robin sequence plus had Stickler and velocardiofacial syndromes.
Journal ArticleDOI
High Prevalence of Symptoms of Menière's Disease in three Families With a Mutation in the COCH Gene
Erik Fransen,M. Verstreken,Wim I. M. Verhagen,Floris L. Wuyts,Patrick L. M. Huygen,Patrick S. C. D’Haese,Nahid G. Robertson,Cynthia C. Morton,Wyman T. McGuirt,Richard J.H. Smith,Frank Declau,P. Van de Heyning,G. Van Camp +12 more
TL;DR: The genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic progressive sensorineural hearing loss associated with vestibular dysfunction reveals the first report of a mutation in a gene leading to the symptoms of Menière's disease in a significant portion of the carriers.