FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Lisbeth Tranebjaerg

Research Profile

Concepts & Ideas

Physiology

Procedures

Disorders

Geographic Areas

Norway

Anatomy

X Chromosome

Chemicals & Drugs

Genes & Molecular Sequences

Phenomena

Founder Effect

Co-author Network

Publications

TOP 3
Carla G van El; Pascal Borry; Anne Cambon-Thomsen; Martina C Cornel; Wybo Dondorp; Florence Fellmann; Ros J Hastings; Shirley V Hodgson; Heidi C Howard; Bartha M Knoppers; Hanne Meijers-Heijboer; Hans Scheffer; Lisbeth Tranebjaerg; Guido de Wert
Whole-genome sequencing in health care.
Tina Storm; Birgitta Sundelin; Lisbeth Tranebjaerg; Pierre J Verroust; Henrik Birn; Erik I Christensen; Katharina Ericson; Carina Frykholm; Jens Michael Hertz; Gerd Holmström; Tryggve Nevéus; Rikke Nielsen
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.
E Husu; M Bille; S Farholt; Hanne Hove; Lisbeth Tranebjaerg; I Vogel; Sven Kreiborg
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Lisbeth Tranebjaerg (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Carla G van El; Pascal Borry; Anne Cambon-Thomsen; Martina C Cornel; Wybo Dondorp; Florence Fellmann; Ros J Hastings; Shirley V Hodgson; Heidi C Howard; Bartha M Knoppers; Hanne Meijers-Heijboer; Hans Scheffer; Lisbeth Tranebjaerg; Guido de Wert
Whole-genome sequencing in health care.
European journal of human genetics : EJHG 2013;21(6):580-4.
2013: Tina Storm; Birgitta Sundelin; Lisbeth Tranebjaerg; Pierre J Verroust; Henrik Birn; Erik I Christensen; Katharina Ericson; Carina Frykholm; Jens Michael Hertz; Gerd Holmström; Tryggve Nevéus; Rikke Nielsen
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2013;28(3):585-91.
2013: E Husu; M Bille; S Farholt; Hanne Hove; Lisbeth Tranebjaerg; I Vogel; Sven Kreiborg
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
Clinical genetics 2013;83(2):125-34.
2013: Kristien Hens; Anneke Lucassen; Christine Patch; Elena Salvaterra; Aad Tibben; Lisbeth Tranebjaerg; Carla E Van El; Eric Vermeulen; Pascal Borry; Anne Cambon-Thomsen; Martina C Cornel; Kris Dierickx; Francesca Forzano
Developing a policy for paediatric biobanks: principles for good practice.
European journal of human genetics : EJHG 2013;21(1):2-7.
2012: Jorieke E H Bergman; Hermien E K de Walle; Lies Hoefsloot; Nicole Janssen; Nanna Dahl Rendtorff; Jeroen Schoots; Lisbeth Tranebjaerg; Almer M van der Sloot; Conny van Ravenswaaij-Arts; Robert M W Hofstra
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Human mutation 2012;33(8):1251-60.
2012: Nicole Janssen; Marianne Lodahl; Jeroen Schoots; Morris A Swertz; Lisbeth Tranebjaerg; Conny van Ravenswaaij-Arts; Jorieke E H Bergman; Robert M W Hofstra; Lies Hoefsloot
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Human mutation 2012;33(8):1149-60.
2012: Ainhi D Ha; Michael W Hayes; Marianne Lodahl; Karl Ng; Kaitlyn L Parratt; Nanna Dahl Rendtorff; Dominic Rowe; Carolyn M Sue; Lisbeth Tranebjaerg; Victor S C Fung
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Movement disorders : official journal of the Movement Disorder Society 2012;27(8):1034-40.
2012: Preben Homøe; Anders Koch; Marianne Lodahl; Inge-Merete Nielsen; Nanna Dahl Rendtorff; Stig Andersen; Ture Andersen; Hans Eiberg; Lisbeth Tranebjaerg
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.
International journal of audiology 2012;51(6):433-6.
2012: Sevil Ari Yuca; Cihangir Akgun; Houda Boulahbel; Yasar Cesur; Murat Dogan; Marianne Lodahl; Nanna Dahl Rendtorff; Lisbeth Tranebjaerg; Cahide Yilmaz; Mehmet Acikgoz
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).
European journal of medical genetics 2012;55(1):37-42.
2011: Bitten Schönewolf-Greulich; Lisbeth Tranebjaerg; Peter Baekgaard; Karen Brøndum-Nielsen; Marianne Lodahl; Kate Nielsen; Kirstine Ravn; Nanna Dahl Rendtorff; Anne Ronan; Zeynep Tümer
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
American journal of medical genetics. Part A 2011;155A(12):2964-9.
2011: Neng Chen; Nanna Dahl Rendtorff; Lisbeth Tranebjaerg; Iris Schrijver
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
The Journal of molecular diagnostics : JMD 2011;13(4):416-26.
2011: Nanna Dahl Rendtorff; Marianne Lodahl; Houda Boulahbel; Ida R Johansen; Arti Pandya; Katherine O Welch; Virginia W Norris; Kathleen S Arnos; Maria Bitner-Glindzicz; Sarah B Emery; Marilyn B Mets; Toril Fagerheim; Kristina Eriksson; Lars Hansen; Helene Bruhn; Claes Möller; Sture Lindholm; Stefan Ensgaard; Marci M Lesperance; Lisbeth Tranebjaerg
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
American journal of medical genetics. Part A 2011;155A(6):1298-313.
2011: Frauke Becker; Carla G van El; Dolores Ibarreta; Eleni Zika; Stuart Hogarth; Pascal Borry; Anne Cambon-Thomsen; Jean-Jacques Cassiman; Gerry Evers-Kiebooms; Shirley Hodgson; A Cécile J W Janssens; Helena Kaariainen; Michael Krawczak; Ulf Kristoffersson; Jan Lubinski; Christine Patch; Victor B Penchaszadeh; Andrew Read; Wolf Rogowski; Jorge Sequeiros; Lisbeth Tranebjaerg; Irene van Langen; Helen Wallace; Ron Zimmern; Jörg Schmidtke; Martina C Cornel
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.
European journal of human genetics : EJHG 2011;19 Suppl 1():S6-44.
2011: Haris Kokotas; Maria Grigoriadou; Li Yang; Marianne Lodahl; Nanna Dahl Rendtorff; Yolanda Gyftodimou; George S Korres; Elisabeth Ferekidou; Dimitrios Kandiloros; Stavros Korres; Lisbeth Tranebjaerg; Min-Xin Guan; Michael B Petersen
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.
International journal of pediatric otorhinolaryngology 2011;75(1):89-94.
2010: Naoya Morisada; Nanna Dahl Rendtorff; Kandai Nozu; Takahiro Morishita; Takayuki Miyakawa; Tohru Matsumoto; Satoshi Hisano; Kazumoto Iijima; Lisbeth Tranebjaerg; Akira Shirahata; Masafumi Matsuo; Koichi Kusuhara
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.
Pediatric nephrology (Berlin, Germany) 2010;25(7):1343-8.
2010: Vedat Topsakal; Nele Hilgert; Joost van Dinther; Lisbeth Tranebjaerg; Nanna D Rendtorff; Andrzej Zarowski; Erwin Offeciers; Guy Van Camp; Paul Van de Heyning
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Audiology & neuro-otology 2010;15(4):211-20.
2009: Maria Kirchhoff; Anne-Marie Bisgaard; Radka Stoeva; Boyan Dimitrov; Gabriele Gillessen-Kaesbach; Jean-Pierre Fryns; Hanne Rose; Liliana Grozdanova; Ivan Ivanov; Kathelijn Keymolen; Christina Fagerberg; Lisbeth Tranebjaerg; Flemming Skovby; Margarita Stefanova
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
American journal of medical genetics. Part A 2009;149A(5):894-905.
2008: Fayez Bahmad; Jennifer O'Malley; Lisbeth Tranebjaerg; Saumil N Merchant
Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2008;29(5):601-6.
2008: Anna-Kaisa Anttonen; Eija Siintola; Lisbeth Tranebjaerg; Nobue K Iwata; Emilia K Bijlsma; Hiroyuki Meguro; Yaeko Ichikawa; Jun Goto; Outi Kopra; Anna-Elina Lehesjoki
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
European journal of human genetics : EJHG 2008;16(8):961-9.
2008: Kirsten M Sanggaard; Klaus Wilbrandt Kjaer; Hans Eiberg; Gudrun Nürnberg; Peter Nürnberg; Katrin Hoffman; Hanne Jensen; Charlotte Sørum; Nanna Dahl Rendtorff; Lisbeth Tranebjaerg
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
American journal of medical genetics. Part A 2008;146A(8):1017-25.
2008: Bo Dreyer; Vigdis Brox; Lisbeth Tranebjaerg; Thomas Rosenberg; Andrè M Sadeghi; Claes Möller; Oivind Nilssen
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Human mutation 2008;29(3):451.
2008: James T Brookes; Adam B Kanis; Lih Yeen Tan; Lisbeth Tranebjaerg; Abram Vore; Richard J H Smith
Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome.
International journal of pediatric otorhinolaryngology 2008;72(1):121-6.
2007: Kirsten Marie Sanggaard; Nanna Dahl Rendtorff; Klaus Wilbrandt Kjaer; Hans Eiberg; Torsten Johnsen; Steen Gimsing; Jørgen Dyrmose; Kristian Otto Nielsen; Kasper Lage; Lisbeth Tranebjaerg
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
European journal of human genetics : EJHG 2007;15(11):1121-31.
2007: Sandra Martins; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; bing-wen soong; Leal Loureiro; Alexandra Dürr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; Guy Rouleau; Paula Coutinho; António Amorim; Jorge Sequeiros
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
Archives of neurology 2007;64(10):1502-8.
2007: Merete Bugge; ANDREW COLLINS; Jens Michael Hertz; Hans Eiberg; Claes Lundsteen; Carsten A Brandt; Mads Bak; Claus Hansen; Celia D Delozier; James Lespinasse; Lisbeth Tranebjaerg; Johanne M D Hahnemann; Kirsten Rasmussen; Gert Bruun-Petersen; Laurence Duprez; Niels Tommerup; Michael B Petersen
Non-disjunction of chromosome 13.
Human molecular genetics 2007;16(16):2004-10.
2007: Jennifer S Bennetts; Nanna Dahl Rendtorff; Fiona Simpson; Lisbeth Tranebjaerg; Carol Wicking
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.
Developmental dynamics : an official publication of the American Association of Anatomists 2007;236(3):843-52.
2007: J Travis Hinson; Valeria R Fantin; Jost Schönberger; Noralv Breivik; Geir Siem; Barbara McDonough; Pankaj Sharma; Ivan J Keogh; Ricardo N Godinho; Felipe Santos; Alfonso Esparza; Yamileth Nicolau; Edgar Selvaag; Bruce Howard Cohen; Charles L Hoppel; Lisbeth Tranebjaerg; Roland D Eavey; Jonathan G Seidman; Christine E Seidman
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
The New England journal of medicine 2007;356(8):809-19.
2006: Mette Warburg; Susanne Ullman; Hanne Jensen; Hans Pedersen; Takasi Kobayashi; Bjørn Russell; Lisbeth Tranebjaerg; Gabriele Richard; Karen Brøndum-Nielsen
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?
American journal of medical genetics. Part A 2006;140(24):2709-13.
2006: Nanna Dahl Rendtorff; Mei Zhu; Toril Fagerheim; Torben L Antal; MaryPat Jones; Tanya M Teslovich; Elizabeth M Gillanders; M. Michael Barmada; Erik Teig; Jeffrey M. Trent; Karen H Friderici; Dietrich A Stephan; Lisbeth Tranebjaerg
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.
European journal of human genetics : EJHG 2006;14(10):1097-105.
2006: Keith E Bryan; Kuo-Kuang Wen; Mei Zhu; Nanna Dahl Rendtorff; Michael Feldkamp; Lisbeth Tranebjaerg; Karen H Friderici; Peter A Rubenstein
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
The Journal of biological chemistry 2006;281(29):20129-39.
2006: Hans Eiberg; Lars Hansen; Birgit Kjer; Torben Hansen; Oluf Pedersen; Michael Bille; Thomas Rosenberg; Lisbeth Tranebjaerg
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
Journal of medical genetics 2006;43(5):435-40.
2006: Sirpa Soini; Dolores Ibarreta; Violetta Anastasiadou; Ségolène Aymé; Suzanne Braga; Martina C Cornel; Domenico A Coviello; Gerry Evers-Kiebooms; Joep P M Geraedts; Luca Gianaroli; Joyce Harper; György Kosztolanyi; Kersti Lundin; Emilio Rodrigues-Cerezo; Karen Sermon; Jorge Sequeiros; Lisbeth Tranebjaerg; Helena Kääriäinen
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.
European journal of human genetics : EJHG 2006;14(5):588-645.
2005: Anna-Kaisa Anttonen; Ibrahim Mahjneh; Riikka H Hämäläinen; Clotilde Lagier-Tourenne; Outi Kopra; Laura Waris; Mikko Anttonen; Tarja Joensuu; Hannu Kalimo; Anders Paetau; Lisbeth Tranebjaerg; Denys Chaigne; Michel Koenig; Orvar Eeg-Olofsson; Bjarne Udd; Mirja Somer; Hannu Somer; Anna-Elina Lehesjoki
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Nature genetics 2005;37(12):1309-11.
2005: Lars Hansen; Hans Eiberg; Timothy Barrett; Toke Bek; Per Kjaersgaard; Lisbeth Tranebjaerg; Thomas Rosenberg
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
European journal of human genetics : EJHG 2005;13(12):1275-84.
2005: Mehdi Sadeghi; Edward S Cohn; William J Kimberling; Lisbeth Tranebjaerg; Claes Möller
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
International journal of audiology 2005;44(5):307-16.
2004: Karin Roesch; Peter J Hynds; Renee Varga; Lisbeth Tranebjaerg; Carla M Koehler
The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.
Human molecular genetics 2004;13(18):2101-11.
2004: Ann Marie Henriksen; Zeynep Tümer; Niels Tommerup; Lisbeth Tranebjaerg; Lars Larsen
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.
Genetic testing 2004;8(4):404-6.
2003: Béatrice Godard; Helena Kääriäinen; Ulf Kristoffersson; Lisbeth Tranebjaerg; Domenico A Coviello; Ségolène Aymé
Provision of genetic services in Europe: current practices and issues.
European journal of human genetics : EJHG 2003;11 Suppl 2():S13-48.
2003: Lisbeth Tranebjaerg; Tanya M Teslovich; MaryPat Jones; M. Michael Barmada; Toril Fagerheim; Arve Dahl; Diana Escolar; Jeffrey M. Trent; Elizabeth M Gillanders; Dietrich A Stephan
Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.
Human genetics 2003;113(3):293-5.
2002: Michael J McKenna; Arthur G Kristiansen; Anke S Tropitzsch; Lisbeth Tranebjaerg; Saumil N Merchant
Deoxyribonucleic acid contamination in archival human temporal bones: a potentially significant problem.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2002;23(5):789-92.
2002: T R Olsen; Lisbeth Tranebjaerg; E A Kvittingen; L Hagenfeldt; C Møller; Oivind Nilssen
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
Journal of medical genetics 2002;39(9):e55.
2002: Maike Warnstedt; Chen Sun; Barbara Poser; Maria Jose Escriva; Lisbeth Tranebjaerg; Torberg Torbergsen; Marijke Van Ghelue; Christoph Fahlke
The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2002;22(17):7462-70.
2002: Juha Paloneva; Tuula Manninen; Grant Christman; Karine Hovanes; Jami Mandelin; Rolf Adolfsson; Marino Bianchin; Thomas D Bird; Roxana Miranda; Andrea Salmaggi; Lisbeth Tranebjaerg; Yrjö T Konttinen; Leena Peltonen
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
American journal of human genetics 2002;71(3):656-62.
2002: Karin Roesch; Sean P Curran; Lisbeth Tranebjaerg; Carla M Koehler
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.
Human molecular genetics 2002;11(5):477-86.
2001: C Sun; Lisbeth Tranebjaerg; Torberg Torbergsen; Gösta Holmgren; Marijke Van Ghelue
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
European journal of human genetics : EJHG 2001;9(12):903-9.
2001: Lisbeth Tranebjaerg; P K Jensen; Marijke Van Ghelue; C L Vnencak-Jones; S Sund; K Elgjo; J Jakobsen; S Lindal; Mette Warburg; A Fuglsang-Frederiksen; K Skullerud
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.
Ophthalmic genetics 2001;22(4):207-23.
2001: Lars Larsen; Jens Vuust; M Nystad; Irina Evseeva; Marijke Van Ghelue; Lisbeth Tranebjaerg
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.
European journal of human genetics : EJHG 2001;9(9):724-7.
2001: Lars Larsen; Paal Skytt Andersen; Jørgen K Kanters; IH Svendsen; Joes Ramsøe Jacobsen; Jens Vuust; göran wettrell; Lisbeth Tranebjaerg; Jørn Bathen; Michael Christiansen
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
Clinical chemistry 2001;47(8):1390-5.
2001: B Dreyer; Lisbeth Tranebjaerg; Vigdis Brox; T Rosenberg; Claes Möller; M Beneyto; Michael D Weston; William J Kimberling; C W Cremers; Xue Zhong Liu; Oivind Nilssen
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
American journal of human genetics 2001;69(1):228-34.
2001: Annastiina Lund; Bjarne Udd; Vesa Juvonen; Peter M Andersen; K Cederquist; M Davis; C Gellera; C Kölmel; LO Ronnevi; A D Sperfeld; S A Sörensen; Lisbeth Tranebjaerg; Lionel Van Maldergem; M Watanabe; M Weber; L Yeung; Marja-Liisa Savontaus
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
European journal of human genetics : EJHG 2001;9(6):431-6.
2001: Claudia Gaspar; Iscia Lopes-Cendes; S Hayes; Jun Goto; K Arvidsson; Adelaide Dias; Isabel Silveira; Patrícia Maciel; Paula Coutinho; M Lima; Y X Zhou; bing-wen soong; Masahiko Watanabe; Paola Giunti; Giovanni Stevanin; Olaf Riess; H Sasaki; M Hsieh; G A Nicholson; E Brunt; J J Higgins; M Lauritzen; Lisbeth Tranebjaerg; V Volpini; Nicholas W Wood; Laura P W Ranum; Shoji Tsuji; Alexis Brice; Jorge Sequeiros; Guy Rouleau
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
American journal of human genetics 2001;68(2):523-8.
2001: Michael Bille; L Munk-Nielsen; Lisbeth Tranebjaerg; A Parving
Two families with phenotypically different hereditary low frequency hearing impairment: longitudinal data and linkage analysis.
Scandinavian audiology 2001;30(4):246-54.
2000: Marijke Van Ghelue; H L Eriksen; Vesna Ponjavic; Toril Fagerheim; Sten Andréasson; Kristina Forsman-Semb; Ola Sandgren; Gösta Holmgren; Lisbeth Tranebjaerg
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.
Ophthalmic genetics 2000;21(4):197-209.
2000: Jess Tyson; Lisbeth Tranebjaerg; M McEntagart; Lars Larsen; Michael Christiansen; M L Whiteford; Jørn Bathen; B Aslaksen; S J Sørland; O Lund; Marcus E Pembrey; Sue Malcolm; Maria Bitner-Glindzicz
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
Human genetics 2000;107(5):499-503.
2000: Lisbeth Tranebjaerg; H Schrader; Juha Paloneva
[Polycystic lipomembranous osteodysplasia].
Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række 2000;120(26):3196.
2000: Dag Malm; Dag S Halvorsen; Lisbeth Tranebjaerg; Haakon Sjursen
Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes.
European journal of pediatrics 2000;159(9):699-703.
2000: Annastiina Lund; Bjarne Udd; Vesa Juvonen; Peter M Andersen; K Cederquist; LO Ronnevi; Pertti Sistonen; S A Sörensen; Lisbeth Tranebjaerg; Carina Wallgren-Pettersson; Marja-Liisa Savontaus
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.
European journal of human genetics : EJHG 2000;8(8):631-6.
2000: B Dreyer; Lisbeth Tranebjaerg; T Rosenberg; Michael D Weston; William J Kimberling; Oivind Nilssen
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
European journal of human genetics : EJHG 2000;8(7):500-6.
2000: Lisbeth Tranebjaerg; B C Hamel; F J Gabreels; W O Renier; Marijke Van Ghelue
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
European journal of human genetics : EJHG 2000;8(6):464-7.
2000: Lisbeth Tranebjaerg; P K Jensen; Marijke Van Ghelue
X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome).
Advances in oto-rhino-laryngology 2000;56():176-80.
2000: Lisbeth Tranebjaerg; H H Elverland; Toril Fagerheim
DFNA7.
Advances in oto-rhino-laryngology 2000;56():97-100.
2000: Maria Bitner-Glindzicz; Lisbeth Tranebjaerg
The Jervell and Lange-Nielsen syndrome.
Advances in oto-rhino-laryngology 2000;56():45-52.
1999: C Sun; O A Henriksen; Lisbeth Tranebjaerg
Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.
Clinical genetics 1999;56(6):457-61.
1999: S Annunen; Jarmo Körkkö; M Czarny; Matthew L Warman; H G Brunner; Helena Kääriäinen; J B Mulliken; Lisbeth Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; Ilkka Kaitila; Maciej R Krawczynski; Anna Latos-Bielenska; S Mukai; Bjorn R Olsen; N Shinno; Mirja Somer; Miikka Vikkula; J Zlotogora; Darwin J Prockop; Leena Ala-Kokko
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
American journal of human genetics 1999;65(4):974-83.
1999: Lisbeth Tranebjaerg; Jørn Bathen; Jess Tyson; Maria Bitner-Glindzicz
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
American journal of medical genetics 1999;89(3):137-46.
1999: Toril Fagerheim; P Raeymaekers; F E Tønnessen; M Pedersen; Lisbeth Tranebjaerg; HA Lubs
A new gene (DYX3) for dyslexia is located on chromosome 2.
Journal of medical genetics 1999;36(9):664-9.
1999: K V Andersen; R P Michler; Oivind Nilssen; Lisbeth Tranebjaerg; J Aasly
[X-linked recessive bulbospinal neuronopathy--Kennedy's syndrome].
Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række 1999;119(11):1591-4.
1999: HA Lubs; Pietro Chiurazzi; J Arena; C Schwartz; Lisbeth Tranebjaerg; G Neri
XLMR genes: update 1998.
American journal of medical genetics 1999;83(4):237-47.
1999: Jeanette J A Holden; M Percy; DJ Allingham-Hawkins; W Ted Brown; Pietro Chiurazzi; Gene S Fisch; Louise W Gane; Chris Gunter; Randi J Hagerman; Edmund C. Jenkins; R F Kooy; HA Lubs; A Murray; G Neri; C Schwartz; Lisbeth Tranebjaerg; L Villard; Patrick J Willems
Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.
American journal of medical genetics 1999;83(4):221-36.
1999: Toril Fagerheim; P Raeymaekers; J Merren; K Mani; G K Jha; Lisa Baumbach; Vigdis Brox; E Breines; B E Holdø; A Holdø; Lisbeth Tranebjaerg
Homozygosity mapping to the USH2A locus in two isolated populations.
Journal of medical genetics 1999;36(2):144-7.
1999: Thomas Berg; HM Riise; GM Hansen; Dag Malm; Lisbeth Tranebjaerg; Ole-Kristian Tollersrud; Oivind Nilssen
Spectrum of mutations in alpha-mannosidosis.
American journal of human genetics 1999;64(1):77-88.
1998: A Wandall; Lisbeth Tranebjaerg; Niels Tommerup
A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores.
Chromosoma 1998;107(6-7):359-65.
1998: Claus Hansen; Merete Bugge; Carsten A Brandt; Jens Michael Hertz; Lisbeth Tranebjaerg; M Mikkelsen; Michael B Petersen
Apolipoprotein E alleles in mothers of trisomy 18 conceptuses.
Clinical genetics 1998;53(4):321-2.
1998: T Løkkegaard; Jørgen E Nielsen; Lis Hasholt; Kirsten Fenger; Lene M Werdelin; Lisbeth Tranebjaerg; Martin Lauritzen; Eskild Colding-Jørgensen; Michael Grønbech-Jensen; O A Henriksen; Sven Asger Sørensen
Machado-Joseph disease in three Scandinavian families.
Journal of the neurological sciences 1998;156(2):152-7.
1998: Merete Bugge; ANDREW COLLINS; Michael B Petersen; J Fisher; C Brandt; Jens Michael Hertz; Lisbeth Tranebjaerg; C de Lozier-Blanchet; P Nicolaides; Karen Brøndum-Nielsen; N Morton; M Mikkelsen
Non-disjunction of chromosome 18.
Human molecular genetics 1998;7(4):661-9.
1998: P Pekkarinen; Iiris Hovatta; Panu Hakola; O Järvi; Marjo Kestilä; U Lenkkeri; Rolf Adolfsson; Gösta Holmgren; Per-Olof Nylander; Lisbeth Tranebjaerg; Joseph D Terwilliger; Jouko Lönnqvist; Leena Peltonen
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.
American journal of human genetics 1998;62(2):362-72.
1997: Jess Tyson; Lisbeth Tranebjaerg; S Bellman; C Wren; J F Taylor; Jørn Bathen; B Aslaksen; S J Sørland; O Lund; Sue Malcolm; Marcus E Pembrey; S Bhattacharya; Maria Bitner-Glindzicz
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.
Human molecular genetics 1997;6(12):2179-85.
1997: Oivind Nilssen; Thomas Berg; HM Riise; U Ramachandran; Gry Evjen; GM Hansen; Dag Malm; Lisbeth Tranebjaerg; Ole-Kristian Tollersrud
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
Human molecular genetics 1997;6(5):717-26.
1997: Lisbeth Tranebjaerg; A L Børresen-Dale; I L Hansteen; S Heim; E A Kvittingen; P Møller
Genetic services in Norway.
European journal of human genetics : EJHG 1997;5 Suppl 2():130-4.
1997: Marianne Schwartz; N Sørensen; Flemming Juul Hansen; Jens Michael Hertz; S Nørby; Lisbeth Tranebjaerg; F Skovby
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.
Human molecular genetics 1997;6(1):99-104.
1996: H Jin; M May; Lisbeth Tranebjaerg; E Kendall; G Fontán; J Jackson; S H Subramony; F Arena; H Lubs; S Smith; R Stevenson; C Schwartz; David Vetrie
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
Nature genetics 1996;14(2):177-80.
1996: Toril Fagerheim; Oivind Nilssen; P Raeymaekers; V Brox; T Moum; H H Elverland; E Teig; H H Omland; G K Fostad; Lisbeth Tranebjaerg
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.
Human molecular genetics 1996;5(8):1187-91.
1996: H A Lubs; Pietro Chiurazzi; JF Arena; C Schwartz; Lisbeth Tranebjaerg; Giovanni Neri
XLMR genes: update 1996.
American journal of medical genetics 1996;64(1):147-57.
1996: Lisbeth Tranebjaerg; H A Lubs; M Borghgraef; W T Brown; Gene S Fisch; J P Fryns; Randi J Hagerman; P A Jacobs; J L Mandel; J Mulley; B Oostra; C Schwartz; Stephanie L Sherman; H Willard; P Willems
Seventh International Workshop on the Fragile X and X-linked Mental Retardation.
American journal of medical genetics 1996;64(1):1-14.
1995: Lisbeth Tranebjaerg; C Schwartz; H Eriksen; sten andreasson; Vesna Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
Journal of medical genetics 1995;32(4):257-63.
1995: Dag Malm; Ole-Kristian Tollersrud; Lisbeth Tranebjaerg; J E Månsson
[Alpha-mannosidosis].
Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række 1995;115(5):594-7.
1994: Ole-Kristian Tollersrud; Oivind Nilssen; Lisbeth Tranebjaerg; O Borud
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
Journal of medical genetics 1994;31(5):360-3.
1993: Oivind Nilssen; Ole-Kristian Tollersrud; O Borud; Lisbeth Tranebjaerg
A simple and rapid PCR based method for AGU(Fin) determination.
Human molecular genetics 1993;2(4):484.