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Lisbeth Tranebjaerg

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.8 Million pre-calculated profiles free of charge to researchers worldwide.

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Physiology

Procedures

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Norway

Anatomy

X Chromosome

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Chemicals & Drugs

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Genes & Molecular Sequences

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Kirchhoff Maria; Bisgaard Anne-Marie; Stoeva Radka; Dimitrov Boyan; Gillessen-Kaesbach Gabriele; Fryns Jean-Pierre; Rose Hanne; Grozdanova Liliana; Ivanov Ivan; Keymolen Kathelijn; Fagerberg Christina; Tranebjaerg Lisbeth; Skovby Flemming; Stefanova Margarita
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
Bahmad Fayez; O'Malley Jennifer; Tranebjaerg Lisbeth; Merchant Saumil N
Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss.
Anttonen Anna-Kaisa; Siintola Eija; Tranebjaerg Lisbeth; Iwata Nobue K; Bijlsma Emilia K; Meguro Hiroyuki; Ichikawa Yaeko; Goto Jun; Kopra Outi; Lehesjoki Anna-Elina
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

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2009: Kirchhoff Maria; Bisgaard Anne-Marie; Stoeva Radka; Dimitrov Boyan; Gillessen-Kaesbach Gabriele; Fryns Jean-Pierre; Rose Hanne; Grozdanova Liliana; Ivanov Ivan; Keymolen Kathelijn; Fagerberg Christina; Tranebjaerg Lisbeth; Skovby Flemming; Stefanova Margarita
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: Bahmad Fayez; O'Malley Jennifer; Tranebjaerg Lisbeth; Merchant Saumil N
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: Anttonen Anna-Kaisa; Siintola Eija; Tranebjaerg Lisbeth; Iwata Nobue K; Bijlsma Emilia K; Meguro Hiroyuki; Ichikawa Yaeko; Goto Jun; Kopra Outi; Lehesjoki Anna-Elina
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: Sanggaard Kirsten M; Kjaer Klaus W; Eiberg Hans; Nürnberg Gudrun; Nürnberg Peter; Hoffman Katrin; Jensen Hanne; Sørum Charlotte; Rendtorff Nanna D; Tranebjaerg Lisbeth
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: Dreyer Bo; Brox Vigdis; Tranebjaerg Lisbeth; Rosenberg Thomas; Sadeghi Andrè M; Möller Claes; Nilssen Oivind
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Human mutation 2008;29(3):451.
2008: Brookes James T; Kanis Adam B; Tan Lih Yeen; Tranebjaerg Lisbeth; Vore Abram; Smith Richard J H
Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome.
International journal of pediatric otorhinolaryngology 2008;72(1):121-6.
2007: Sanggaard Kirsten Marie; Rendtorff Nanna Dahl; Kjaer Klaus Wilbrandt; Eiberg Hans; Johnsen Torsten; Gimsing Steen; Dyrmose Jørgen; Nielsen Kristian Otto; Lage Kasper; Tranebjaerg Lisbeth
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: Martins Sandra; Calafell Francesc; Gaspar Claudia; Wong Virginia C N; Silveira Isabel; Nicholson Garth A; Brunt Ewout R; Tranebjaerg Lisbeth; Stevanin Giovanni; Hsieh Mingli; Soong Bing-Wen; Loureiro Leal; Dürr Alexandra; Tsuji Shoji; Watanabe Mitsunori; Jardim Laura B; Giunti Paola; Riess Olaf; Ranum Laura P W; Brice Alexis; Rouleau Guy A; Coutinho Paula; Amorim António; Sequeiros Jorge
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
Archives of neurology 2007;64(10):1502-8.
2007: Bugge Merete; Collins Andrew; Hertz Jens Michael; Eiberg Hans; Lundsteen Claes; Brandt Carsten A; Bak Mads; Hansen Claus; Delozier Celia D; Lespinasse James; Tranebjaerg Lisbeth; Hahnemann Johanne M D; Rasmussen Kirsten; Bruun-Petersen Gert; Duprez Laurence; Tommerup Niels; Petersen Michael B
Non-disjunction of chromosome 13.
Human molecular genetics 2007;16(16):2004-10.
2007: Bennetts Jennifer S; Rendtorff Nanna D; Simpson Fiona; Tranebjaerg Lisbeth; Wicking Carol
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: Hinson J Travis; Fantin Valeria R; Schönberger Jost; Breivik Noralv; Siem Geir; McDonough Barbara; Sharma Pankaj; Keogh Ivan; Godinho Ricardo; Santos Felipe; Esparza Alfonso; Nicolau Yamileth; Selvaag Edgar; Cohen Bruce H; Hoppel Charles L; Tranebjaerg Lisbeth; Eavey Roland D; Seidman J G; Seidman Christine E
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: Warburg Mette; Ullman Susanne; Jensen Hanne; Pedersen Hans; Kobayashi Takasi; Russell Bjørn; Tranebjaerg Lisbeth; Richard Gabriele; Brøndum-Nielsen Karen
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?
American journal of medical genetics. Part A 2006;140(24):2709-13.
2006: Rendtorff Nanna D; Zhu Mei; Fagerheim Toril; Antal Torben L; Jones MaryPat; Teslovich Tanya M; Gillanders Elizabeth M; Barmada Michael; Teig Erik; Trent Jeffrey M; Friderici Karen H; Stephan Dietrich A; Tranebjaerg Lisbeth
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: Bryan Keith E; Wen Kuo-Kuang; Zhu Mei; Rendtorff Nanna Dahl; Feldkamp Michael; Tranebjaerg Lisbeth; Friderici Karen H; Rubenstein Peter A
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
The Journal of biological chemistry 2006;281(29):20129-39.
2006: Eiberg H; Hansen L; Kjer B; Hansen T; Pedersen O; Bille M; Rosenberg T; Tranebjaerg L
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: Soini Sirpa; Ibarreta Dolores; Anastasiadou Violetta; Aymé Ségolène; Braga Suzanne; Cornel Martina; Coviello Domenico A; Evers-Kiebooms Gerry; Geraedts Joep; Gianaroli Luca; Harper Joyce; Kosztolanyi György; Lundin Kersti; Rodrigues-Cerezo Emilio; Sermon Karen; Sequeiros Jorge; Tranebjaerg Lisbeth; Kääriäinen Helena;
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: Anttonen Anna-Kaisa; Mahjneh Ibrahim; Hämäläinen Riikka H; Lagier-Tourenne Clotilde; Kopra Outi; Waris Laura; Anttonen Mikko; Joensuu Tarja; Kalimo Hannu; Paetau Anders; Tranebjaerg Lisbeth; Chaigne Denys; Koenig Michel; Eeg-Olofsson Orvar; Udd Bjarne; Somer Mirja; Somer Hannu; Lehesjoki Anna-Elina
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Nature genetics 2005;37(12):1309-11.
2005: Hansen Lars; Eiberg Hans; Barrett Timothy; Bek Toke; Kjaersgaard Per; Tranebjaerg Lisbeth; Rosenberg Thomas
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: Sadeghi Mehdi; Cohn Edward S; Kimberling William J; Tranebjaerg Lisbeth; Möller Claes
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
International journal of audiology 2005;44(5):307-16.
2004: Roesch Karin; Hynds Peter J; Varga Renee; Tranebjaerg Lisbeth; Koehler Carla M
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: Henriksen Ann Marie; Tümer Zeynep; Tommerup Niels; Tranebjaerg Lisbeth; Larsen Lars Allan
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.
Genetic testing 2004;8(4):404-6.
2003: Godard Béatrice; Kääriäinen Helena; Kristoffersson Ulf; Tranebjaerg Lisbeth; Coviello Domenico; Aymé Ségolène
Provision of genetic services in Europe: current practices and issues.
European journal of human genetics : EJHG 2003;11 Suppl 2():S13-48.
2003: Tranebjaerg Lisbeth; Teslovich Tanya M; Jones MaryPat; Barmada M Michael; Fagerheim Toril; Dahl Arve; Escolar Diana M; Trent Jeffrey M; Gillanders Elizabeth M; Stephan Dietrich A
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: McKenna Michael J; Kristiansen Arthur G; Tropitzsch Anke S; Tranebjaerg Lisbeth; Merchant Saumil N
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: Olsen T R; Tranebjaerg L; Kvittingen E A; Hagenfeldt L; Møller C; Nilssen O
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: Warnstedt Maike; Sun Chen; Poser Barbara; Escriva Maria Jose; Tranebjaerg Lisbeth; Torbergsen Torberg; van Ghelue Marijke; Fahlke Christoph
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: Paloneva Juha; Manninen Tuula; Christman Grant; Hovanes Karine; Mandelin Jami; Adolfsson Rolf; Bianchin Marino; Bird Thomas; Miranda Roxana; Salmaggi Andrea; Tranebjaerg Lisbeth; Konttinen Yrjö; Peltonen Leena
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: Roesch Karin; Curran Sean P; Tranebjaerg Lisbeth; Koehler Carla M
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: Sun C; Tranebjaerg L; Torbergsen T; Holmgren G; Van Ghelue M
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
European journal of human genetics : EJHG 2001;9(12):903-9.
2001: Tranebjaerg L; Jensen P K; Van Ghelue M; Vnencak-Jones C L; Sund S; Elgjo K; Jakobsen J; Lindal S; Warburg M; Fuglsang-Frederiksen A; Skullerud K
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: Larsen L A; Vuust J; Nystad M; Evseeva I; Van Ghelue M; Tranebjaerg L
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: Larsen L A; Andersen P S; Kanters J; Svendsen I H; Jacobsen J R; Vuust J; Wettrell G; Tranebjaerg L; Bathen J; Christiansen M
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: Dreyer B; Tranebjaerg L; Brox V; Rosenberg T; Möller C; Beneyto M; Weston M D; Kimberling W J; Cremers C W; Liu X Z; Nilssen O
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
American journal of human genetics 2001;69(1):228-34.
2001: Lund A; Udd B; Juvonen V; Andersen P M; Cederquist K; Davis M; Gellera C; Kölmel C; Ronnevi L O; Sperfeld A D; Sörensen S A; Tranebjaerg L; Van Maldergem L; Watanabe M; Weber M; Yeung L; Savontaus M L
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: Gaspar C; Lopes-Cendes I; Hayes S; Goto J; Arvidsson K; Dias A; Silveira I; Maciel P; Coutinho P; Lima M; Zhou Y X; Soong B W; Watanabe M; Giunti P; Stevanin G; Riess O; Sasaki H; Hsieh M; Nicholson G A; Brunt E; Higgins J J; Lauritzen M; Tranebjaerg L; Volpini V; Wood N; Ranum L; Tsuji S; Brice A; Sequeiros J; Rouleau G A
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
American journal of human genetics 2001;68(2):523-8.
2001: Bille M; Munk-Nielsen L; Tranebjaerg L; Parving A
Two families with phenotypically different hereditary low frequency hearing impairment: longitudinal data and linkage analysis.
Scandinavian audiology 2001;30(4):246-54.
2000: Van Ghelue M; Eriksen H L; Ponjavic V; Fagerheim T; Andréasson S; Forsman-Semb K; Sandgren O; Holmgren G; Tranebjaerg L
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: Tyson J; Tranebjaerg L; McEntagart M; Larsen L A; Christiansen M; Whiteford M L; Bathen J; Aslaksen B; Sørland S J; Lund O; Pembrey M E; Malcolm S; Bitner-Glindzicz M
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
Human genetics 2000;107(5):499-503.
2000: Tranebjaerg L; Schrader H; Paloneva J
[Polycystic lipomembranous osteodysplasia]
Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række 2000;120(26):3196.
2000: Malm D; Halvorsen D S; Tranebjaerg L; Sjursen H
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: Lund A; Udd B; Juvonen V; Andersen P M; Cederquist K; Ronnevi L O; Sistonen P; Sörensen S A; Tranebjaerg L; Wallgren-Pettersson C; Savontaus M L
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.
European journal of human genetics : EJHG 2000;8(8):631-6.
2000: Dreyer B; Tranebjaerg L; Rosenberg T; Weston M D; Kimberling W J; Nilssen O
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
European journal of human genetics : EJHG 2000;8(7):500-6.
2000: Tranebjaerg L; Hamel B C; Gabreels F J; Renier W O; Van Ghelue M
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: Tranebjaerg L; Jensen P K; van Ghelue M
X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome).
Advances in oto-rhino-laryngology 2000;56():176-80.
2000: Tranebjaerg L; Elverland H H; Fagerheim T
DFNA7.
Advances in oto-rhino-laryngology 2000;56():97-100.
2000: Bitner-Glindzicz M; Tranebjaerg L
The Jervell and Lange-Nielsen syndrome.
Advances in oto-rhino-laryngology 2000;56():45-52.
1999: Sun C; Henriksen O A; Tranebjaerg L
Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.
Clinical genetics 1999;56(6):457-61.
1999: Annunen S; Körkkö J; Czarny M; Warman M L; Brunner H G; Kääriäinen H; Mulliken J B; Tranebjaerg L; Brooks D G; Cox G F; Cruysberg J R; Curtis M A; Davenport S L; Friedrich C A; Kaitila I; Krawczynski M R; Latos-Bielenska A; Mukai S; Olsen B R; Shinno N; Somer M; Vikkula M; Zlotogora J; Prockop D J; Ala-Kokko L
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: Tranebjaerg L; Bathen J; Tyson J; Bitner-Glindzicz M
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
American journal of medical genetics 1999;89(3):137-46.
1999: Fagerheim T; Raeymaekers P; Tønnessen F E; Pedersen M; Tranebjaerg L; Lubs H A
A new gene (DYX3) for dyslexia is located on chromosome 2.
Journal of medical genetics 1999;36(9):664-9.
1999: Andersen K V; Michler R P; Nilssen O; Tranebjaerg L; Aasly J
[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: Lubs H; Chiurazzi P; Arena J; Schwartz C; Tranebjaerg L; Neri G
XLMR genes: update 1998.
American journal of medical genetics 1999;83(4):237-47.
1999: Holden J J; Percy M; Allingham-Hawkins D; Brown W T; Chiurazzi P; Fisch G; Gane L; Gunter C; Hagerman R; Jenkins E C; Kooy R F; Lubs H A; Murray A; Neri G; Schwartz C; Tranebjaerg L; Villard L; Willems P J
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: Fagerheim T; Raeymaekers P; Merren J; Mani K; Jha G K; Baumbach L; Brox V; Breines E; Holdø B E; Holdø A; Tranebjaerg L
Homozygosity mapping to the USH2A locus in two isolated populations.
Journal of medical genetics 1999;36(2):144-7.
1999: Berg T; Riise H M; Hansen G M; Malm D; Tranebjaerg L; Tollersrud O K; Nilssen O
Spectrum of mutations in alpha-mannosidosis.
American journal of human genetics 1999;64(1):77-88.
1998: Wandall A; Tranebjaerg L; Tommerup N
A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores.
Chromosoma 1998;107(6-7):359-65.
1998: Hansen C; Bugge M; Brandt C A; Hertz J M; Tranebjaerg L; Mikkelsen M; Petersen M B
Apolipoprotein E alleles in mothers of trisomy 18 conceptuses.
Clinical genetics 1998;53(4):321-2.
1998: Løkkegaard T; Nielsen J E; Hasholt L; Fenger K; Werdelin L; Tranebjaerg L; Lauritzen M; Colding-Jørgensen E; Grønbech-Jensen M; Henriksen O A; Sørensen S A
Machado-Joseph disease in three Scandinavian families.
Journal of the neurological sciences 1998;156(2):152-7.
1998: Bugge M; Collins A; Petersen M B; Fisher J; Brandt C; Hertz J M; Tranebjaerg L; de Lozier-Blanchet C; Nicolaides P; Brøndum-Nielsen K; Morton N; Mikkelsen M
Non-disjunction of chromosome 18.
Human molecular genetics 1998;7(4):661-9.
1998: Pekkarinen P; Hovatta I; Hakola P; Järvi O; Kestilä M; Lenkkeri U; Adolfsson R; Holmgren G; Nylander P O; Tranebjaerg L; Terwilliger J D; Lönnqvist J; Peltonen L
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: Tyson J; Tranebjaerg L; Bellman S; Wren C; Taylor J F; Bathen J; Aslaksen B; Sørland S J; Lund O; Malcolm S; Pembrey M; Bhattacharya S; Bitner-Glindzicz M
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: Nilssen O; Berg T; Riise H M; Ramachandran U; Evjen G; Hansen G M; Malm D; Tranebjaerg L; Tollersrud O K
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: Schwartz M; Sørensen N; Hansen F J; Hertz J M; Nørby S; Tranebjaerg L; Skovby F
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.
1997: Tranebjaerg L; Børresen-Dale A L; Hansteen I L; Heim S; Kvittingen E A; Møller P
Genetic services in Norway.
European journal of human genetics : EJHG 1997;5 Suppl 2():130-4.
1996: Jin H; May M; Tranebjaerg L; Kendall E; Fontán G; Jackson J; Subramony S H; Arena F; Lubs H; Smith S; Stevenson R; Schwartz C; Vetrie D
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: Fagerheim T; Nilssen O; Raeymaekers P; Brox V; Moum T; Elverland H H; Teig E; Omland H H; Fostad G K; Tranebjaerg L
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: Lubs H A; Chiurazzi P; Arena J F; Schwartz C; Tranebjaerg L; Neri G
XLMR genes: update 1996.
American journal of medical genetics 1996;64(1):147-57.
1996: Tranebjaerg L; Lubs H A; Borghgraef M; Brown W T; Fisch G; Fryns J P; Hagerman R; Jacobs P A; Mandel J L; Mulley J; Oostra B; Schwartz C; Sherman S; Willard H; Willems P
Seventh International Workshop on the Fragile X and X-linked Mental Retardation.
American journal of medical genetics 1996;64(1):1-14.
1995: Tranebjaerg L; Schwartz C; Eriksen H; Andreasson S; Ponjavic V; Dahl A; Stevenson R E; May M; Arena F; Barker D
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: Malm D; Tollersrud O K; Tranebjaerg L; Månsson J E
[Alpha-mannosidosis]
Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række 1995;115(5):594-7.
1994: Tollersrud O K; Nilssen O; Tranebjaerg L; Borud O
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
Journal of medical genetics 1994;31(5):360-3.
1993: Nilssen O; Tollersrud O K; Borud O; Tranebjaerg L
A simple and rapid PCR based method for AGU(Fin) determination.
Human molecular genetics 1993;2(4):484.

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