Tranebjærg, L.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

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, G. Esberg, M. Ramsing, M. Lodahl, N. D. Rendtorff, H. V. Olesen, M. Sommerlund

Journal:

Clinical and Experimental Dermatology

Year:

2011

Language:

english

File:

PDF, 487 KB

english, 2011

2

Chromosome 6q deletion and retinal cone dystrophy

Mette Warburg, Ole Sjö, Lisbeth Tranebjærg

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 75 KB

english, 1991

3

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

Tranebjærg, Lisbeth, Strenzke, Nicola, Lindholm, Sture, Rendtorff, Nanna D., Poulsen, Hanne, Khandelia, Himanshu, Kopec, Wojciech, Lyngbye, Troels J. Brünnich, Hamel, Christian, Delettre, Cecile, Bocq

Journal:

Year:

2018

Language:

english

File:

PDF, 1.79 MB

english, 2018

4

Adaptive Processes in Hearing

Santurette, Sébastien, Christensen-Dalsgaard, Jakob, Tranebjærg, Lisbeth, Andersen, Ture, Poulsen, Torben, Dau, Torsten

Journal:

Trends in Hearing

Year:

2018

Language:

english

File:

PDF, 88 KB

english, 2018

5

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

Mikkelsen, Kasper Sandager, Tranebjærg, Lisbeth, Mey, Kristianna

Journal:

Cochlear Implants International

Year:

2018

Language:

english

File:

PDF, 1.06 MB

english, 2018

6

Seventh international workshop on the fragile X and X-linked mental retardation

Tranebjærg, Lisbeth, Lubs, Herbert A., Borghgraef, Martine, Brown, W. Ted, Fisch, Gene, Fryns, Jean-Pierre, Hagerman, Randi, Jacobs, Patricia A., Mandel, Jean-Louis, Mulley, John, Oostra, Ben, Schwart

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 1.70 MB

1996

7

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

Ørstavik, Karen Helene, Elise Ørstavik, Ragnhild, Eiklid, Kristin, Tranebjærg, Lisbeth

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 412 KB

english, 1996

8

Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening

Tone Ikdahl Andersen, Hans Geir Eiken, Fergus Couch, Grete Kaada, Martina Skrede, Hilde Johnsen, Thomas A. Aloysius, Kjell M. Tveit, Lisbeth Tranebjærg, Anne Dørum, Pål Møller, Barbara L. Weber, Anne-

Journal:

Year:

1998

Language:

english

File:

PDF, 241 KB

english, 1998

9

X-linked mental retardation associated with psoriasis: A new syndrome?

Lisbeth Tranebjærg, Arne Svejgaard, Gert Lykkesfeldt

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 496 KB

english, 1988

10

New X-linked syndrome with apraxia, ataxia, and mental deficiency: Clinical, cytogenetic and neuropsychological studies in two Danish families

Dr. Lisbeth Tranebjærg, Hans Lou, Jente Andresen

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 516 KB

english, 1992

11

Clinical diagnosis of the Usher syndromes

R. J. H. Smith, C. I. Berlin, J. F. Hejtmancik, B. J. B. Keats, W. J. Kimberling, R. A. Lewis, C. G. Möller, M. Z. Pelias, L. Tranebjærǵ

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 663 KB

english, 1994

12

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

Kirsten M. Sanggaard, Klaus W. Kjaer, Hans Eiberg, Gudrun Nürnberg, Peter Nürnberg, Katrin Hoffman, Hanne Jensen, Charlotte Sørum, Nanna D. Rendtorff, Lisbeth Tranebjærg

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 472 KB

english, 2008

13

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

Bo Dreyer, Vigdis Brox, Lisbeth Tranebjærg, Thomas Rosenberg, Andrè M. Sadeghi, Claes Möller, Øivind Nilssen

Journal:

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

14

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

Chen Sun, Olaf Anton Henriksen, Lisbeth Tranebjærg

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 183 KB

english, 1999

15

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

Finn Stener Jørgensen, Jens Bang, Lisbeth Tranebjærg, Lillian N. Berge, Sturla H. Eik-Nes, Marianne Schwartz

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 292 KB

english, 1994

16

394delTT: a Nordic cystic fibrosis mutation

Marianne Schwartz, Maria Anvret, Mireille Claustres, Hans Geir Eiken, Kristin Eiklid, Charlotte Schaedel, Lisa Stolpe, Lisbeth Tranebjærg

Journal:

Year:

1994

Language:

english

File:

PDF, 624 KB

english, 1994

17

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

Annelise Wandall, Lisbeth Tranebjærg, Niels Tommerup

Journal:

Year:

1998

Language:

english

File:

PDF, 692 KB

english, 1998

18

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

Dag Malm, Dag S. Halvorsen, Lisbeth Tranebjærg, Haakon Sjursen

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 144 KB

english, 2000

19

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

Jessica Tyson, Lisbeth Tranebjærg, Meriel McEntagart, Lars Larsen, Michael Christiansen, Margo Whiteford, Jørn Bathen, Bjørn Aslaksen, Svein Sørland, Ole Lund, Marcus Pembrey, Sue Malcolm, Maria Bitne

Journal:

Year:

2001

Language:

english

File:

PDF, 13 KB

english, 2001

20

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

Jessica Tyson, Lisbeth Tranebjærg, Meriel McEntagart, Lars Larsen, Michael Christiansen, Margo Whiteford, Jørn Bathen, Bjørn Aslaksen, Svein Sørland, Ole Lund, Marcus Pembrey, Sue Malcolm, Maria Bitne

Journal:

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

21

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

Judith Nardmann, Lisbeth Tranebjærg, Bernhard Horsthemke, H.-J. Lüdecke

Journal:

Year:

1997

Language:

english

File:

PDF, 229 KB

english, 1997

22

Branchio-oto-renal syndrome caused by partialEYA1deletion due to LINE-1 insertion

Naoya Morisada, Nanna Dahl Rendtorff, Kandai Nozu, Takahiro Morishita, Takayuki Miyakawa, Tohru Matsumoto, Satoshi Hisano, Kazumoto Iijima, Lisbeth Tranebjærg, Akira Shirahata, Masafumi Matsuo, Koichi

Journal:

Pediatric Nephrology

Year:

2010

Language:

english

File:

PDF, 363 KB

english, 2010

23

Apolipoprotein E alleles in mothers of trisomy 18 conceptuses

Claus Hansen, Merete Bugge, Carsten A Brandt, Jens M Hertz, Lisbeth Tranebjærg, Margareta Mikkelsen, Michael B Petersen

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 169 KB

english, 1998

24

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

C Sun, M Van Ghelue, L Tranebjærg, F Thyssen, Ø Nilssen, T Torbergsen

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 676 KB

english, 2011

25

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

Sun, Chen, Tranebjærg, Lisbeth, Torbergsen, Torberg, Holmgren, Gösta, Van Ghelue, Marijke

Journal:

European Journal of Human Genetics

Year:

2010

File:

PDF, 156 KB

2010

26

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

Jin, Hong, May, Melanie, Tranebjærg, Lisbeth, Kendall, Elaine, Fontán, Gumersindo, Jackson, John, Subramony, S.H., Arena, Fernando, Lubs, Herbert, Smith, Stephanie

Journal:

Nature Genetics

Year:

1996

File:

PDF, 624 KB

1996

27

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

Dreyer, Bo, Tranebjærg, Lisbeth, Rosenberg, Thomas, Weston, Michael D, Kimberling, William J, Nilssen, Øivind

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 623 KB

english, 2000

28

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

Tranebjærg, Lisbeth, Hamel, Ben CJ, Gabreels, Fons JM, Renier, Willy O, Ghelue, Marijke Van

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 164 KB

english, 2000

29

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

Lund, A, Udd, B, Juvonen, V, Andersen, P M, Cederquist, K, Ronnevi, L-O, Sistonen, P, Sörensen, S A, Tranebjærg, L, Wallgren-Pettersson, C

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 184 KB

english, 2000

30

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

Larsen, Lars Allan, Vuust, Jens, Nystad, Mona, Evseeva, Irina, Van Ghelue, Marijke, Tranebjærg, Lisbeth

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 127 KB

english, 2001

31

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

Sun, Chen, Tranebjærg, Lisbeth, Torbergsen, Torberg, Holmgren, Gösta, Van Ghelue, Marijke

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 153 KB

english, 2001

32

Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

Lagier-Tourenne, C, Tranebjærg, L, Chaigne, D, Gribaa, M, Dollfus, H, Silvestri, G, Bétard, C, Warter, J M, Koenig, M

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 258 KB

english, 2003

33

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

Hansen, Lars, Eiberg, Hans, Barrett, Timothy, Bek, Toke, Kjærsgaard, Per, Tranebjærg, Lisbeth, Rosenberg, Thomas

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 228 KB

english, 2005

34

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

Sanggaard, Kirsten Marie, Rendtorff, Nanna Dahl, Kjaer, Klaus Wilbrandt, Eiberg, Hans, Johnsen, Torsten, Gimsing, Steen, Dyrmose, Jørgen, Nielsen, Kristian Otto, Lage, Kasper, Tranebjærg, Lisbeth

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 230 KB

english, 2007

35

Otopathology in Mohr-Tranebjærg Syndrome

Fayez Bahmad Jr, Saumil N. Merchant, Joseph B. Nadol Jr, Lisbth Tranebjærg

Journal:

The Laryngoscope

Year:

2007

Language:

english

File:

PDF, 1.41 MB

english, 2007

36

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

Jorieke E.H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E.K. de Walle, Jeroen Schoots, Nanna D. Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij-Arts, Robert

Journal:

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

37

The phenotypic spectrum of dystonia in Mohr–Tranebjaerg syndrome

Ainhi D. Ha, Kaitlyn L. Parratt, Nanna D. Rendtorff, Marianne Lodahl, Karl Ng, Dominic B. Rowe, Carolyn M. Sue, Michael W. Hayes, Lisbeth Tranebjærg, Victor S.C. Fung

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

38

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

Lisbeth Tranebjærg, Ulla Britt Bækmark, Margrethe Dyhr-Nœlsen, Sven Kreiborg

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 572 KB

english, 1987

39

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

Kristin Eiklid, Lisbeth Tranebjærg, Hans G. Eiken, Jan C. Pedersen, Helge Michalsen, Gjermund Fluge, Marianne Schwartz, Bjørn R. Nilsen, Roald Bolle, Dag Skyberg, Helge Boman, Kare Berg

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 201 KB

english, 1993

40

Major depressive disorder as a prominent but underestimated feature of fragile X syndrome

Lisbeth Tranebjærg, Alena Ørum

Journal:

Comprehensive Psychiatry

Year:

1991

Language:

english

File:

PDF, 453 KB

english, 1991

41

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

Sevil Ari Yuca, Nanna Dahl Rendtorff, Houda Boulahbel, Marianne Lodahl, Lisbeth Tranebjærg, Yasar Cesur, Murat Dogan, Cahide Yilmaz, Cihangir Akgun, Mehmet Acikgoz

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 623 KB

english, 2012

42

Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome

James T. Brookes, Adam B. Kanis, Lih Yeen Tan, Lisbeth Tranebjærg, Abram Vore, Richard J.H. Smith

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

43

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

Haris Kokotas, Maria Grigoriadou, Li Yang, Marianne Lodahl, Nanna Dahl Rendtorff, Yolanda Gyftodimou, George S. Korres, Elisabeth Ferekidou, Dimitrios Kandiloros, Stavros Korres, Lisbeth Tranebjærg, M

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2011

Language:

english

File:

PDF, 186 KB

english, 2011

44

Spectrum of Mutations in α-Mannosidosis

Thomas Berg, Hilde Monica Frostad Riise, Gaute Martin Hansen, Dag Malm, Lisbeth Tranebjærg, Ole Kristian Tollersrud, Øivind Nilssen

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 336 KB

english, 1999

45

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny, Matthew L. Warman, Han G. Brunner, Helena Kääriäinen, John B. Mulliken, Lisbeth Tranebjærg, David G. Brooks, Gerald F. Cox, Johan R. Cruysberg, Mary A. C

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 225 KB

english, 1999

46

A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation

Bo Dreyer, Lisbeth Tranebjærg, Vigdis Brox, Thomas Rosenberg, Claes Möller, Magdalena Beneyto, Michael D. Weston, William J. Kimberling, Øivind Nilssen

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 199 KB

english, 2001

47

Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Juha Paloneva, Tuula Manninen, Grant Christman, Karine Hovanes, Jami Mandelin, Rolf Adolfsson, Marino Bianchin, Thomas Bird, Roxana Miranda, Andrea Salmaggi, Lisbeth Tranebjærg, Yrjö Konttinen, Leena

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 515 KB

english, 2002

48

Machado–Joseph disease in three Scandinavian families

T Løkkegaard, J.E Nielsen, L Hasholt, K Fenger, L Werdelin, L Tranebjærg, M Lauritzen, E Colding-Jørgensen, M Grønbech-Jensen, O.A Henriksen, S.A Sørensen

Journal:

Journal of the Neurological Sciences

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

49

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

E Husu, HD Hove, S Farholt, M Bille, L Tranebjærg, I Vogel, S Kreiborg

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 650 KB

english, 2012

50

Prometaphase chromosome and immunological studies in different derivatives of balanced t(8;14)(p231;q323)

Lisbeth Tranebjærg, Bendt Mansa, Lise Steenbuch

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 152 KB

english, 1984