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L Tranebjaerg

Explore the profile of L Tranebjaerg including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 110
Citations 1802
Followers 0
Related Specialties
Genetics
General Medicine
Molecular Biology
Top 10 Co-Authors
O Nilssen
M Mikkelsen
C Schwartz
M Van Ghelue
T Fagerheim
M Warburg
M B Petersen
N Tommerup
O K Tollersrud
M Bitner-Glindzicz
Published In
Am J Med Genet
Am J Hum Genet
J Med Genet
Tidsskr Nor Laegeforen
Clin Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients
Teek R, Kruustuk K, Zordania R, Joost K, Kahre T, Tonisson N, et al.
Adv Med Sci . 2013 Nov; 58(2):419-28. PMID: 24222258
Purpose: The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000-2009. Methods: The study group consisted of 233 probands...
2.
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
Rendtorff N, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansen E, et al.
Clin Genet . 2013 Jan; 84(4):388-91. PMID: 23336812
No abstract available.
3.
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome
Husu E, Hove H, Farholt S, Bille M, Tranebjaerg L, Vogel I, et al.
Clin Genet . 2012 Apr; 83(2):125-34. PMID: 22462537
CHARGE (coloboma of the eye, heart defects, choanal atresia, retarded growth and development, genital hypoplasia and ear anomalies and/or hearing loss) syndrome is a rare genetic, multiple-malformation syndrome. About 80%...
4.
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene
Sun C, Van Ghelue M, Tranebjaerg L, Thyssen F, Nilssen O, Torbergsen T
Clin Genet . 2011 Jan; 80(6):574-80. PMID: 21204798
Myotonia is characterized by hyperexcitability of the muscle cell membrane. Myotonic disorders are divided into two main categories: non-dystrophic and dystrophic myotonias. The non-dystrophic myotonias involve solely the muscle system,...
5.
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome
Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff N, et al.
Clin Exp Dermatol . 2010 Sep; 36(2):142-8. PMID: 20846357
Background: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26. The commonest mutation is the p.Asp50Asn...
6.
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, et al.
J Med Genet . 2006 May; 43(5):435-40. PMID: 16648378
Autosomal dominant optic atrophy (ADOA) is genetically heterogeneous, with OPA1 on 3q28 being the most prevalently mutated gene. Additional loci are OPA3, OPA4, and OPA5, located at 19q13.2, 18q12.2, and...
7.
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease
Olsen T, Tranebjaerg L, Kvittingen E, Hagenfeldt L, Moller C, Nilssen O
J Med Genet . 2002 Sep; 39(9):e55. PMID: 12205125
No abstract available.
8.
HLA profile of three ethnic groups living in the North-Western region of Russia
Evseeva I, Spurkland A, Thorsby E, Smerdel A, Tranebjaerg L, Boldyreva M, et al.
Tissue Antigens . 2002 Apr; 59(1):38-43. PMID: 11972877
HLA class II alleles were determined by PCR-SSO and PCR-SSP typing of DNA samples from 55 Nentsy, 81 Saami and 73 Pomor individuals from the North-European part of Russia. The...
9.
[Stickler's syndrome--an underdiagnosed condition?]
Klingenberg C, Fossen K, Tranebjaerg L
Tidsskr Nor Laegeforen . 2002 Mar; 121(27):3172-5. PMID: 11876139
Background: Stickler's syndrome is an autosomal dominantly inherited connective tissue disorder characterised by ocular, orofacial, skeletal and auditory features. The estimated prevalence is 1:10,000. Material And Methods: We present a...
10.
Two families with phenotypically different hereditary low frequency hearing impairment: longitudinal data and linkage analysis
Bille M, Tranebjaerg L, Parving A
Scand Audiol . 2002 Feb; 30(4):246-54. PMID: 11845993
Two families with low frequency hearing impairment have been described previously. Family A (Danish) presented a sensorineural hearing impairment most pronounced for frequencies below 2 kHz and a pedigree typical...