L. Tranebjærg

发表

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

F. Thyssen, M. Van Ghelue, C. Sun, 2011, Clinical genetics.

Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM

O. Henriksen, L. Tranebjærg, Chen Sun, 1999, Clinical genetics.

Localization to Xq22 and clinical update of a family with X-linked recessive mental retardation with progression sensorineural deafness, progressive tapeto-retinal degeneration and dystonia

R. Stevenson, C. Schwartz, S. Mellgren, 1994 .

The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct.

P. Cayé-Thomasen, L. Tranebjærg, M. Bille, 2019, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

A neocentromere on human chromosome 3 without detectable α-satellite DNA forms morphologically normal kinetochores

N. Tommerup, L. Tranebjærg, A. Wandall, 1998, Chromosoma.

WFS1 Wolfram Syndrome Spectrum Disorder

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

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome

B. Hamel, W. Renier, L. Tranebjærg, 2000, European Journal of Human Genetics.

Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins

L. Tranebjærg, 2013 .

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human Genetics.

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

S. Kreiborg, I. Vogel, H. Hove, 2013, Clinical genetics.

Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening

H. Johnsen, A. Børresen-Dale, F. Couch, 1998, Human mutation.

Apolipoprotein E alleles in mothers of trisomy 18 conceptuses

C. Hansen, M. Petersen, M. Mikkelsen, 1998, Clinical genetics.

394delTT: a Nordic cystic fibrosis mutation

M. Schwartz, M. Claustres, M. Anvret, 1994, Human Genetics.

Jervell and Lange-Nielsen Syndrome

R. Samson, G. Green, L. Tranebjærg, 2014 .

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

G. Holmgren, L. Tranebjærg, T. Torbergsen, 2001, European Journal of Human Genetics.

Homozygosity mapping to the USH2A locus in two isolated populations

T. Fagerheim, L. Baumbach, P. Raeymaekers, 1999, Journal of medical genetics.

Usher syndrome in Denmark

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

Genetic Testing and Common Disorders: How to Assess Relevance and Possibilities

A. Cambon-Thomsen, M. Krawczak, J. Lubiński, 2011 .

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 .

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

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

Analysis of FMR1 (CGG)n alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia

J. Vuust, L. Larsen, I. Evseeva, 2001, European Journal of Human Genetics.

Deafness-Dystonia-Optic Neuronopathy Syndrome

L. Tranebjærg, 2013 .

Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination

M. Schwartz, L. Berge, S. Eik-Nes, 1994, Prenatal diagnosis.

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.

University of Birmingham EURO-WABB : an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

V. Tillmann, S. Aymé, T. Barrett, 2013 .

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

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

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.

P. Verroust, E. Christensen, G. Holmström, 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Beyond the tubule : Pathologic variants of LRP 2 , encoding the megalin receptor , result 2 in glomerular loss and early progressive chronic kidney disease 3 4

Shrikant Mane, F. Jouret, F. Emma, 2020 .

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.

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

G. Holmgren, O. Sandgren, T. Fagerheim, 2000, Ophthalmic 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.

Genetics of congenital hearing impairment: A clinical approach

L. Tranebjærg, 2008 .

Congenital Nonprofound Bilateral Sensorineural Hearing Loss in Children: Comprehensive Characterization of Auditory Function and Hearing Aid Benefit

E. Berninger, Mircea Romanitan, L. Tranebjærg, 2022, Audiology research.

Prenatal diagnosis of osteogenesis imperfecta

P. Øian, L. Berge, T. Kiserud, 1995, Acta obstetricia et gynecologica Scandinavica.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of 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.

Hormonal treatment of cryptorchidism—hCG or GnRH—a multicentre study

B. Jacobsen, J. Müller, L. Tranebjærg, 1992, Acta paediatrica.

Spectrum of Mutations in α-Mannosidosis

O. Tollersrud, H. M. Riise, L. Tranebjærg, 1999 .

TheMeiotic StageofNondisjunction inTrisomy21: Determination byUsingDNA Polymorphisms

S. Schwartz, F. Greenberg, O. Raoul, 1992 .

MAJOR DEPRESSIVE DISORDER AS A PROMINENT BUT UNDERESTIMATED FEATURE OF FRAGILE X SYNDROME

L. Tranebjærg, A. Ørum, 1991 .

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.

Histopathology of Nonsyndromic Autosomal Dominant Midfrequency Sensorineural Hearing Loss

S. Merchant, J. O'malley, Fayez Bahmad, 2008, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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.

Background Document to the ESHG recommendations on genetic testing and common disorders

A. Cambon-Thomsen, M. Krawczak, J. Lubiński, 2011 .

A new gene (DYX3) for dyslexia is located on chromosome 2

H. Lubs, T. Fagerheim, F. Tønnessen, 1999, Journal of medical genetics.

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

G. Holmgren, L. Tranebjærg, T. Torbergsen, 2001, European Journal of Human Genetics.

The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions

B. Horsthemke, H. Lüdecke, L. Tranebjærg, 1997, Human Genetics.

Naturally Occurring Mutants of Human Steroid 21-Hydroxylase (P450c21) Pinpoint Residues Important for Enzyme Activity and Stability*

H. Luthman, A. Vlamis-Gardikas, S. Lajic, 1998, The Journal of Biological Chemistry.

A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness

D. Vetrie, R. Stevenson, C. Schwartz, 1996, Nature Genetics.

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

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

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Syed Ali Raza Kazmi, M. Göpfert, M. Oti, 2017, Disease Models & Mechanisms.

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

Z. Tümer, T. Arnesen, J. Hogue, 2022, Human Genetics.

Deciphering the premature mortality in PIGA-CDG – An untold story

Z. Tümer, G. Rubboli, R. Møller, 2020, Epilepsy Research.

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

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

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.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

L. Biesecker, J. Johnston, O. Bruland, 2018, American journal of human genetics.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

C. Möller, T. Rosenberg, V. Brox, 2008, Human mutation.

Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients

M. Schwartz, H. Boman, H. Eiken, 1993 .

Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs

L. Tranebjærg, K. Mey, K. S. Mikkelsen, 2018, Cochlear implants international.

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Ole Lund, Lisbeth Tranebjærg, Maria Bitner-Glindzicz, 2000, Human 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.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human 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.

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

C. Cremers, C. Möller, H. Kremer, 2016, Hearing Research.

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

T. Hansen, O. Pedersen, T. Rosenberg, 2005, Journal of Medical Genetics.

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.

α-Mannosidosis : functional cloning of the lysosomal α-mannosidase cDNA and identification of a mutation in two affected siblings

G. Evjen, O. Tollersrud, H. M. Riise, 1997 .

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

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

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Richard Sinnott, Véronique Paquis-Flucklinger, Kay Parkinson, 2013, BMC Pediatrics.

Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia

P. Andersen, C. Wallgren‐Pettersson, P. Sistonen, 2000, European Journal of Human Genetics.

Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

M. Koenig, M. Gribaa, H. Dollfus, 2003, European Journal of Human Genetics.

Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure.

H. Hasle, Anne-Sofie Skou, L. Tranebjærg, 2014, The Journal of pediatrics.

Immunoglobulin and Complement Studies in Children with Schönlein‐Henoch Syndrome and Other Vasculitic Diseases

L. Tranebjærg, H. E. Nielsen, E. Taaning, 1991, Acta paediatrica Scandinavica.

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.

Identification of novel USH2A mutations: implications for the structure of USH2A protein

T. Rosenberg, W. Kimberling, M. D. Weston, 2000, European Journal of Human Genetics.

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.

Optic Nerve Histopathology in a Case of Wolfram Syndrome Demonstrates a Mitochondrial Pattern of Axonal Loss

N. Miller, T. Albini, V. Carelli, 2012 .

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

T. Rosenberg, H. Eiberg, T. Bek, 2005, European Journal of Human Genetics.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Pascal Borry, Heidi C Howard, Jörg Schmidtke, 2014, European Journal of Human Genetics.

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.

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

K. Skullerud, M. Warburg, A. Fuglsang-Frederiksen, 2001, Ophthalmic genetics.

Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation

C. Möller, W. Kimberling, M. Sadeghi, 2005, International journal of audiology.

Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes

H. Sjursen, L. Tranebjærg, D. Malm, 2000, European Journal of Pediatrics.

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.

The need for interaction between assisted reproduction technology and genetics

L. Gianaroli, S. Aymé, K. Sermon, 2006, European Journal of Human Genetics.

The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology.

L. Gianaroli, S. Aymé, K. Sermon, 2006, Human reproduction.

Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23) *

S. Kreiborg, L. Tranebjærg, Ulla Britt Bækmark, 1987, Clinical genetics.

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

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

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Z. Tümer, R. Wetke, T. Fagerheim, 2013, Clinical genetics.

Sticklers syndrom – en underdiagnostisert tilstand?

C. Klingenberg, L. Tranebjærg, K. Fossen, 2001 .

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.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

K. Ormond, Y. Bombard, B. Peterlin, 2015, European journal of human genetics : EJHG.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in Medicine.

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease

C. Möller, L. Hagenfeldt, L. Tranebjærg, 2002, Journal of medical genetics.

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.

M. Pembrey, M. Bitner-Glindzicz, S. Bhattacharya, 1997, Human molecular genetics.

Machado–Joseph disease in three Scandinavian families

K. Fenger, S. Sørensen, L. Hasholt, 1998, Journal of the Neurological Sciences.

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

M. Pembrey, M. Bitner-Glindzicz, L. Larsen, 2000, Human Genetics.

Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin‐Bell syndrome

K. Davies, N. Tommerup, U. Froster-Iskenius, 1991, Prenatal diagnosis.

Deoxyribonucleic Acid Contamination in Archival Human Temporal Bones: A Potentially Significant Problem

S. Merchant, M. McKenna, L. Tranebjærg, 2002, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

R. Hennekam, J. Clayton-Smith, H. Brunner, 1997, Clinical dysmorphology.

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

T. Fagerheim, H. Elverland, L. Tranebjaerg, 1996, Human molecular genetics.

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.

L. Tranebjaerg, K. Orstavik, K. Ørstavik, 1996, American journal of medical genetics.

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

M. Bitner-Glindzicz, L. Tranebjaerg, A. Tinker, 2001, Cardiovascular research.

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

S. Antonarakis, L. Tranebjaerg, M. Petersen, 1991, American journal of human genetics.

Partial USH2A deletions contribute to Usher syndrome in Denmark

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

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

C. Larsson, N. Hayward, B. Teh, 1998, The Journal of clinical endocrinology and metabolism.

Jervell and Lange-Nielsen Syndrome in: GeneReviews at GeneTests

L. Tranebjærg, 2012 .

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

D J Prockop, I. Kaitila, A. Latos-Bieleńska, 1999, American journal of human genetics.

Localization in man of fifteen DNA sequences within the chromosome segment 13q12-q22.

F. Mitelman, N. Tommerup, L. Tranebjaerg, 2008, Hereditas.

Adaptive Processes in Hearing

Torsten Dau, Torben Poulsen, Jakob Christensen-Dalsgaard, 2018, Trends in hearing.

Adaptive Processes in

Christensen-Dalsgaard, L. Tranebjærg, Hearing, 2019 .

The vent effect in instant ear tips and its impact on the fitting of modern hearing aids

Jens Cubick, S. Santurette, L. Tranebjærg, 2019 .

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.

D. Rapaport, Gertraud Engl, L. Tranebjærg, 2012, Human molecular genetics.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

C. Möller, T. Rosenberg, V. Brox, 2008, Human mutation.