Anne-Martine R de Heer
Overview
Explore the profile of Anne-Martine R de Heer including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
6
Citations
66
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
de Heer A, Merchant S, Kammeraad J, Cruysberg J, Huygen P, Cremers C
Audiol Neurootol
. 2012 Apr;
17(4):219-27.
PMID: 22487897
The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by...
2.
de Heer A, Schraders M, Oostrik J, Hoefsloot L, Huygen P, Cremers C
Ann Otol Rhinol Laryngol
. 2011 May;
120(4):243-8.
PMID: 21585154
Objectives: We undertook to show that in a family with nonsyndromic autosomal dominant sensorineural hearing loss, genetic analysis can be successful when there is a match with a specific DFNA...
3.
de Heer A, Collin R, Huygen P, Schraders M, Oostrik J, Rouwette M, et al.
Audiol Neurootol
. 2011 Jan;
16(2):93-105.
PMID: 21252500
In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene...
4.
de Heer A, Huygen P, Collin R, Oostrik J, Kremer H, Cremers C
Ann Otol Rhinol Laryngol
. 2009 Jun;
118(5):382-90.
PMID: 19548389
Objectives: We analyzed the phenotype in a 5-generation DFNA20/26 family with a novel missense mutation in the ACTG1 gene (c.151G>A) and compared the findings to previous reports on DFNA20/26 families....
5.
de Heer A, Huygen P, Collin R, Kremer H, Cremers C
Ann Otol Rhinol Laryngol
. 2009 May;
118(4):313-20.
PMID: 19462854
Objectives: Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P. Methods: A 4-generation pedigree was constructed of the Dutch family with the novel L223P...
6.
Collin R, de Heer A, Oostrik J, Pauw R, Plantinga R, Huygen P, et al.
Eur J Hum Genet
. 2008 Jun;
16(12):1430-6.
PMID: 18575463
Autosomal dominant hearing loss is highly heterogeneous. Hearing impairment mainly involves the mid-frequencies (500-2000 Hz) in only a low percentage of the cases. In a Dutch family with autosomal dominant...