Patrick L M Huygen
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Explore the profile of Patrick L M Huygen including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Robijn S, Smits J, Sezer K, Huygen P, Beynon A, van Wijk E, et al.
Biomolecules
. 2022 Feb;
12(2).
PMID: 35204720
Pathogenic missense variants in are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of...
2.
Smits J, van Beelen E, Weegerink N, Oostrik J, Huygen P, Beynon A, et al.
Otol Neurotol
. 2021 Mar;
42(4):e399-e407.
PMID: 33710989
Objective: To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss. Study Design: Genotype-phenotype correlation study. Genetic analysis consisted of linkage analysis, variable number...
3.
Stultiens J, Huygen P, Oonk A, Mylanus E, Kunst H, Hol M, et al.
Otol Neurotol
. 2019 Jun;
40(5S Suppl 1):S43-S50.
PMID: 31225822
Objective: To evaluate short- and long-term hearing results of surgery for acquired atresia of the external auditory canal (EAC) in a large patient cohort and to define preoperative audiometric conditions...
4.
Booth K, Askew J, Talebizadeh Z, Huygen P, Eudy J, Kenyon J, et al.
Genet Med
. 2018 Sep;
21(4):948-954.
PMID: 30245514
Purpose: The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family. Methods: Clinical examination, genome-wide linkage analysis, and...
5.
Hartel B, Lofgren M, Huygen P, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi A, et al.
Hear Res
. 2016 Jun;
339:60-8.
PMID: 27318125
Objectives: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations...
6.
Taylor K, Booth K, Azaiez H, Sloan C, Kolbe D, Glanz E, et al.
Ann Otol Rhinol Laryngol
. 2015 Nov;
125(5):361-8.
PMID: 26530094
Objective: To present audiometric data in 3 dimensions by considering age as an addition dimension. Methods: Audioprofile surfaces (APSs) were fitted to a set of audiograms by plotting each measurement...
7.
Zazo Seco C, Serrao de Castro L, van Nierop J, Morin M, Jhangiani S, Verver E, et al.
Am J Hum Genet
. 2015 Nov;
97(5):647-60.
PMID: 26522471
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286_303delinsT (p.Ser96Ter), in KITLG....
8.
van Beelen E, Oonk A, Leijendeckers J, Hoefsloot E, Pennings R, Feenstra I, et al.
Ear Hear
. 2015 Sep;
37(1):103-11.
PMID: 26331839
Objectives: Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in...
9.
Verver E, Topsakal V, Kunst H, Huygen P, Heller P, Pujol-Moix N, et al.
Ear Hear
. 2015 Jul;
37(1):112-20.
PMID: 26226608
Objectives: MYH9-related disease (MYH9-RD) is an autosomal- dominant disorder deriving from mutations in MYH9, the gene for the nonmuscle myosin heavy chain (NMMHC)-IIA. MYH9-RD has a complex phenotype including congenital...
10.
Azaiez H, Decker A, Booth K, Simpson A, Shearer A, Huygen P, et al.
PLoS Genet
. 2015 Mar;
11(3):e1005137.
PMID: 25816005
Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of targeted genomic enrichment and massively parallel...