N. D. Rendtorff

发表

WFS1 Wolfram Syndrome Spectrum Disorder

T. Barrett, L. Tranebjærg, N. D. Rendtorff, 1993 .

Assignment1 of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33→q23

Z. Tümer, N. Tommerup, H. Vissing, 2000, Cytogenetic and Genome Research.

Usher syndrome in Denmark

T. Rosenberg, L. Møller, K. Grønskov, 2018 .

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

P. Mattar, S. Daiger, M. Cayouette, 2022, Science advances.

WFS1-Related Disorders

T. Barrett, L. Tranebjærg, N. D. Rendtorff, 2013 .

Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.

N. Miller, T. Albini, V. Carelli, 2013, Mitochondrion.

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

P. Hu, S. Agrawal, T. Young, 2021, Human genetics.

Effects of Human Deafness γ-Actin Mutations (DFNA20/26) on Actin Function*

L. Tranebjaerg, Mei Zhu, P. Rubenstein, 2006, Journal of Biological Chemistry.

Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations

A. Zarowski, V. Topsakal, J. van Dinther, 2009, Audiology and Neurotology.

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

K. Lage, H. Eiberg, K. Kjaer, 2007, European Journal of Human Genetics.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

J. Tolmie, N. Tommerup, H. Karstensen, 2022, Scientific Reports.

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

K. Arnos, A. Pandya, M. Bitner-Glindzicz, 2011, American journal of medical genetics. Part A.

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

M. Dogan, L. Tranebjærg, H. Boulahbel, 2012, European journal of medical genetics.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

M. Bitner-Glindzicz, C. Möller, T. Bek, 2018, Human Genetics.

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.

L. Tranebjærg, Ø. Nilssen, P. Torring, 2021, European journal of medical genetics.

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome

U. Koppelhus, L. Tranebjærg, M. Sommerlund, 2011, Clinical and experimental dermatology.

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

P. Cayé-Thomasen, L. Tranebjaerg, M. Bille, 2019, The Laryngoscope.

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

I. Schrijver, N. Chen, L. Tranebjærg, 2011, The Journal of molecular diagnostics : JMD.

Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation.

N. Tommerup, M. Vekemans, T. Attié-Bitach, 2001, Genomics.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

L. Hoefsloot, R. Hofstra, C. V. van Ravenswaaij-Arts, 2012, Human mutation.

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

B. No̸rgaard-Pedersen, L. Larsen, A. Parving, 2004, Genetic testing.

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

B. Menten, G. Arno, M. De Bruyne, 2021, Frontiers in Cell and Developmental Biology.

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

M. Matsuo, K. Kusuhara, A. Shirahata, 2010, Pediatric Nephrology.

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

C. Möller, F. Cremers, A. Puschmann, 2019, Parkinsonism & related disorders.

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Z. Tümer, K. Brøndum‐Nielsen, A. Ronan, 2011, American journal of medical genetics. Part A.

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

K. Steel, S. Leal, N. Tommerup, 2015, PLoS genetics.

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

C. Möller, N. Katsanis, F. Cremers, 2017, Ophthalmic genetics.

Functional Assessment of Variants Associated with Wolfram Syndrome.

M. Bitner-Glindzicz, K. Hussain, Erdal Kurnaz, 2019, Human molecular genetics.

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland

H. Eiberg, P. Homøe, L. Tranebjærg, 2012, International journal of audiology.

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long‐range PCR sequencing, and report of 28 novel mutations

M. Schwartz, B. Bjerregaard, S. Kjaergaard, 2005, Human mutation.

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

H. Eiberg, G. Nürnberg, P. Nürnberg, 2008, American journal of medical genetics. Part A.

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

N. Dahl, J. Klar, L. Tranebjærg, 2015, Gene.

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

Tanya M. Teslovich, E. Gillanders, D. Stephan, 2006, European Journal of Human Genetics.

Phenotypic subregions within the split-hand/foot malformation 1 locus

Malene B. Rasmussen, S. Kreiborg, E. Budtz-Jørgensen, 2016, Human Genetics.

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

C. Möller, M. Koenig, D. Lacombe, 2017, Neurobiology of Disease.

Usher syndrome in Denmark: mutation spectrum and some clinical observations

T. Rosenberg, A. Roux, H. Karstensen, 2016, Molecular genetics & genomic medicine.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

L. Vissers, I. Fajardy, D. Sharon, 2023, HGG advances.

The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non‐progressive infantile ataxia on chromosome 20q11‐q13

L. Tranebjaerg, F. Simpson, C. Wicking, 2007, Developmental dynamics : an official publication of the American Association of Anatomists.

The phenotypic spectrum of dystonia in Mohr–Tranebjaerg syndrome

V. Fung, C. Sue, D. Rowe, 2012, Movement disorders : official journal of the Movement Disorder Society.

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

K. Lindorff-Larsen, Amelie Stein, R. Hartmann-Petersen, 2020, European journal of medical genetics.

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

D. Nickerson, M. Bamshad, C. Möller, 2017, Genes.

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.

G. Korres, Y. Gyftodimou, M. Petersen, 2011, International journal of pediatric otorhinolaryngology.

A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

A. Schäffer, E. Gertz, A. Griffith, 2017, Journal of Medical Genetics.

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

R. Santarelli, L. Tranebjaerg, P. Scimemi, 2022, Genes.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

PCR-based screening of YAC clones without DNA extraction

N. Tommerup, S. Moestrup, K. Henriksen, 1999 .

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

K. Arnos, A. Pandya, M. Bitner-Glindzicz, 2011, American journal of medical genetics. Part A.

Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.

T. Albini, V. Carelli, A. Sadun, 2013, Mitochondrion.

Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.

L. Tranebjaerg, Mei Zhu, P. Rubenstein, 2006, The Journal of biological chemistry.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

M. Bitner-Glindzicz, C. Möller, T. Bek, 2018, Human Genetics.