nature.com search

Loading Filters

Showing 1–20 of 20 results

Loading Filters

Amendments and Corrections | 12 November 2015
Erratum: Partial USH2A deletions contribute to Usher syndrome in Denmark
- Shzeena Dad
- , Nanna D Rendtorff
- , Erik Kann
- , Anders Albrechtsen
- , Mana M Mehrjouy
- , Mads Bak
- , Niels Tommerup
- , Lisbeth Tranebjærg
- , Thomas Rosenberg
- , Hanne Jensen
- & Lisbeth B Møller
European Journal of Human Genetics 23 , 1750–1750

Rights & permissionsfor article Erratum: Partial USH2A deletions contribute to Usher syndrome in Denmark . Opens in a new window.
Research | 4 February 2019 | Open
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
- Cathrine Jespersgaard
- , Mingyan Fang
- , Mette Bertelsen
- , Xiao Dang
- , Hanne Jensen
- , Yulan Chen
- , Niels Bech
- , Lanlan Dai
- , Thomas Rosenberg
- , Jianguo Zhang
- , Lisbeth Birk Møller
- , Zeynep Tümer
- , Karen Brøndum-Nielsen
- & Karen Grønskov
Scientific Reports 9 , 1–7

Rights & permissionsfor article Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy . Opens in a new window.
Research | 24 January 2019 | Open
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1
Scientific Reports 9 , 1–7

Rights & permissionsfor article A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 . Opens in a new window.
Research | 25 March 2015
Partial USH2A deletions contribute to Usher syndrome in Denmark
- Shzeena Dad
- , Nanna D Rendtorff
- , Erik Kann
- , Anders Albrechtsen
- , Mana M Mehrjouy
- , Mads Bak
- , Niels Tommerup
- , Lisbeth Tranebjærg
- , Thomas Rosenberg
- , Hanne Jensen
- & Lisbeth B Møller
European Journal of Human Genetics 23 , 1646–1651

Rights & permissionsfor article Partial USH2A deletions contribute to Usher syndrome in Denmark . Opens in a new window.
Research | 9 January 2008
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
- Mette Gilling
- , Marlene Briciet Lauritsen
- , Morten Møller
- , Karen Friis Henriksen
- , Astrid Vicente
- , Guiomar Oliveira
- , Christina Cintin
- , Hans Eiberg
- , Paal Skyt Andersen
- , Ole Mors
- , Thomas Rosenberg
- , Karen Brøndum-Nielsen
- , Rodney M J Cotterill
- , Claes Lundsteen
- , Hans-Hilger Ropers
- , Reinhard Ullmann
- , Iben Bache
- , Zeynep Tümer
- & Niels Tommerup
European Journal of Human Genetics 16 , 312–319

Rights & permissionsfor article A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia . Opens in a new window.
Research | 1 August 1998
Positional cloning of the gene for X-linked retinitis pigmentosa 2
- Uwe Schwahn
- , Steffen Lenzner
- , Juan Dong
- , Silke Feil
- , Bernd Hinzmann
- , Gerard van Duijnhoven
- , Renate Kirschner
- , Myriam Hemberger
- , Arthur A.B. Bergen
- , Thomas Rosenberg
- , Alfred J.L.G. Pinckers
- , Reinald Fundele
- , André Rosenthal
- , Frans P.M. Cremers
- , H.-Hilger Ropers
- & Wolfgang Berger
Nature Genetics 19 , 327–332

Rights & permissionsfor article Positional cloning of the gene for X-linked retinitis pigmentosa 2 . Opens in a new window.
Amendments and Corrections | 22 July 2010
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul CM Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle OJ Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
European Journal of Human Genetics 18 , 881–881

Rights & permissionsfor article Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients . Opens in a new window.
28 January 1999
X-linked ocular albinism: prevalence and mutations – a national study
- Thomas Rosenberg
- & Marianne Schwartz
European Journal of Human Genetics 6 , 570–577

Rights & permissionsfor article X-linked ocular albinism: prevalence and mutations – a national study . Opens in a new window.
Research | 25 February 1950
Acetylation of Sulphanilamide by Acetyl Metaphosphate
- HANS E. HEYMAN
- & THOMAS ROSENBERG
Nature 165 , 317–318

Rights & permissionsfor article Acetylation of Sulphanilamide by Acetyl Metaphosphate . Opens in a new window.
Research | 24 July 2000
Identification of novel USH2A mutations: implications for the structure of USH2A protein
European Journal of Human Genetics 8 , 500–506

Rights & permissionsfor article Identification of novel USH2A mutations: implications for the structure of USH2A protein . Opens in a new window.
19 October 2001
An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
European Journal of Human Genetics 9 , 805–809

Rights & permissionsfor article An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome . Opens in a new window.
Research | 15 December 2004
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- Susanne Kohl
- , Balazs Varsanyi
- , Gesine Abadin Antunes
- , Britta Baumann
- , Carel B Hoyng
- , Herbert Jägle
- , Thomas Rosenberg
- , Ulrich Kellner
- , Birgit Lorenz
- , Roberto Salati
- , Bernhard Jurklies
- , Agnes Farkas
- , Sten Andreasson
- , Richard G Weleber
- , Samuel G Jacobson
- , Günther Rudolph
- , Claudio Castellan
- , Helene Dollfus
- , Eric Legius
- , Mario Anastasi
- , Pierre Bitoun
- , Dorit Lev
- , Paul A Sieving
- , Francis L Munier
- , Eberhart Zrenner
- , Lindsay T Sharpe
- , Frans P M Cremers
- & Bernd Wissinger
European Journal of Human Genetics 13 , 302–308

Rights & permissionsfor article CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia . Opens in a new window.
Research | 12 January 2001
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40
- Frank Tiecke
- , Stefanie Katzke
- , Patrick Booms
- , Peter N Robinson
- , Luitgard Neumann
- , Maurice Godfrey
- , Kurt R Mathews
- , Maren Scheuner
- , Georg Klaus Hinkel
- , Rolf E Brenner
- , Hedwig H Hövels-Gürich
- , Christian Hagemeier
- , Josefine Fuchs
- , Flemming Skovby
- & Thomas Rosenberg
European Journal of Human Genetics 9 , 13–21

Rights & permissionsfor article Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40 . Opens in a new window.
Research | 1 May 1994
Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness
Nature Genetics 7 , 64–68

Rights & permissionsfor article Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness . Opens in a new window.
Research | 24 June 2016 | Open
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
- Elena Buena-Atienza
- , Klaus Rüther
- , Britta Baumann
- , Richard Bergholz
- , David Birch
- , Elfride De Baere
- , Helene Dollfus
- , Marie T. Greally
- , Peter Gustavsson
- , Christian P. Hamel
- , John R. Heckenlively
- , Bart P. Leroy
- , Astrid S. Plomp
- , Jan Willem R. Pott
- , Katherine Rose
- , Thomas Rosenberg
- , Zornitza Stark
- , Joke B. G. M. Verheij
- , Richard Weleber
- , Ditta Zobor
- , Nicole Weisschuh
- , Susanne Kohl
- & Bernd Wissinger
Scientific Reports 6 , 1–11

Rights & permissionsfor article De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy . Opens in a new window.
Research | 19 February 2014
The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract
- Lars Hansen
- , Sophie Comyn
- , Yuan Mang
- , Allan Lind-Thomsen
- , Layne Myhre
- , Francesca Jean
- , Hans Eiberg
- , Niels Tommerup
- , Thomas Rosenberg
- & David Pilgrim
European Journal of Human Genetics 22 , 1290–1297

Rights & permissionsfor article The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract . Opens in a new window.
Research | 2 December 2015
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
- Galuh D N Astuti
- , Mette Bertelsen
- , Markus N Preising
- , Muhammad Ajmal
- , Birgit Lorenz
- , Sultana M H Faradz
- , Raheel Qamar
- , Rob W J Collin
- , Thomas Rosenberg
- & Frans P M Cremers
European Journal of Human Genetics 24 , 1071–1079

Rights & permissionsfor article Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark . Opens in a new window.
Research | 7 September 2005
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
- Lars Hansen
- , Hans Eiberg
- , Timothy Barrett
- , Toke Bek
- , Per Kjærsgaard
- , Lisbeth Tranebjærg
- & Thomas Rosenberg
European Journal of Human Genetics 13 , 1275–1284

Rights & permissionsfor article Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified . Opens in a new window.
Research | 5 May 1999
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
European Journal of Human Genetics 7 , 274–286

Rights & permissionsfor article Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype . Opens in a new window.
Research | 24 February 2010
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul C M Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle O J Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
European Journal of Human Genetics 18 , 872–880

Rights & permissionsfor article Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients . Opens in a new window.

Refine your results by…

Filters

Filter By:

Erratum: Partial USH2A deletions contribute to Usher syndrome in Denmark

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

Partial USH2A deletions contribute to Usher syndrome in Denmark

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

X-linked ocular albinism: prevalence and mutations – a national study

Acetylation of Sulphanilamide by Acetyl Metaphosphate

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

An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

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

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Quick links

Refine your results by…

Filters ​

Filter By:

Search

Quick links

Filters