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Amendments and Corrections | 23 November 2006
Erratum: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
European Journal of Human Genetics 14 , 1321–1321

Rights & permissionsfor article Erratum: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia . Opens in a new window.
Research | 27 January 2016
Against all odds: blended phenotypes of three single-gene defects
European Journal of Human Genetics 24 , 1274–1279

Rights & permissionsfor article Against all odds: blended phenotypes of three single-gene defects . Opens in a new window.
21 April 2016
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
- Karim Kouz
- , Christina Lissewski
- , Stephanie Spranger
- , Diana Mitter
- , Angelika Riess
- , Vanesa Lopez-Gonzalez
- , Sabine Lüttgen
- , Hatip Aydin
- , Florian von Deimling
- , Christina Evers
- , Andreas Hahn
- , Maja Hempel
- , Ulrike Issa
- , Anne-Karin Kahlert
- , Adrian Lieb
- , Pablo Villavicencio-Lorini
- , Maria Juliana Ballesta-Martinez
- , Sheela Nampoothiri
- , Angela Ovens-Raeder
- , Alena Puchmajerová
- , Robin Satanovskij
- , Heide Seidel
- , Stephan Unkelbach
- , Bernhard Zabel
- , Kerstin Kutsche
- & Martin Zenker
Genetics in Medicine 18 , 1226–1234

Rights & permissionsfor article Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation . Opens in a new window.
Research | 24 February 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
- Sheila Unger
- , Detlef Böhm
- , Frank J Kaiser
- , Silke Kaulfuß
- , Wiktor Borozdin
- , Karin Buiting
- , Peter Burfeind
- , Johann Böhm
- , Francisco Barrionuevo
- , Alexander Craig
- , Kristi Borowski
- , Kim Keppler-Noreuil
- , Thomas Schmitt-Mechelke
- , Bernhard Steiner
- , Deborah Bartholdi
- , Johannes Lemke
- , Geert Mortier
- , Richard Sandford
- , Bernhard Zabel
- , Andrea Superti-Furga
- & Jürgen Kohlhase
Nature Genetics 40 , 287–289

Rights & permissionsfor article Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations . Opens in a new window.
Research | 1 May 1998
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
- Sandra D. Dreyer
- , Guang Zhou
- , Antonio Baldini
- , Andreas Winterpacht
- , Bernhard Zabel
- , William Cole
- , Randy L. Johnson
- & Brendan Lee
Nature Genetics 19 , 47–50

Rights & permissionsfor article Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome . Opens in a new window.
Research | 29 November 2006
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
- Andreas Zankl
- , Gail C Jackson
- , Laureane Mittaz Crettol
- , Jacky Taylor
- , Rob Elles
- , Geert R Mortier
- , Jurgen Spranger
- , Bernhard Zabel
- , Sheila Unger
- , Martine Le Merrer
- , Valerie Cormier-Daire
- , Christine M Hall
- , Michael J Wright
- , Luisa Bonafe
- , Andrea Superti-Furga
- & Michael D Briggs
European Journal of Human Genetics 15 , 150–154

Rights & permissionsfor article Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia . Opens in a new window.
Research | 10 October 2012
Clinical Utility Gene Card for: campomelic dysplasia
European Journal of Human Genetics 21 , 792–792

Rights & permissionsfor article Clinical Utility Gene Card for: campomelic dysplasia . Opens in a new window.
Research | 1 January 2000
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
Nature Genetics 24 , 71–74

Rights & permissionsfor article Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I . Opens in a new window.
Correspondence | 1 August 2005
Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor
- Dirk Prawitt
- , Thorsten Enklaar
- , Barbara Gärtner-Rupprecht
- , Christian Spangenberg
- , Ekkehart Lausch
- , Dirk Reutzel
- , Stephan Fees
- , Maria Korzon
- , Izabela Brozek
- , Janusz Limon
- , David E Housman
- , Jerry Pelletier
- & Bernhard Zabel
Nature Genetics 37 , 785–786

Rights & permissionsfor article Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor . Opens in a new window.
Research | 17 May 2000
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates
- Zhihong Shan
- , Bernhard Zabel
- , Udo Trautmann
- , Ulrike Hillig
- , Chris Ottolenghi
- , Yayu Wang
- & Thomas Haaf
European Journal of Human Genetics 8 , 167–173

Rights & permissionsfor article FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates . Opens in a new window.
Research | 16 August 2006
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
European Journal of Human Genetics 14 , 1240–1247

Rights & permissionsfor article Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia . Opens in a new window.
1 November 1992
CHARACTERIZATION OF CHRONIC HEPATITIS B IN CHILDHOOD USING MOLECULAR BIOLOGY TECHNIQUES
Pediatric Research 32 , 623–623

Rights & permissionsfor article CHARACTERIZATION OF CHRONIC HEPATITIS B IN CHILDHOOD USING MOLECULAR BIOLOGY TECHNIQUES . Opens in a new window.
Research | 11 March 2009
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis
European Journal of Human Genetics 17 , 1141–1147

Rights & permissionsfor article Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis . Opens in a new window.
Research | 1 February 2001
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
- Roy Morello
- , Guang Zhou
- , Sandra D. Dreyer
- , Scott J. Harvey
- , Yoshifumi Ninomiya
- , Paul S. Thorner
- , Jeffrey H. Miner
- , William Cole
- , Andreas Winterpacht
- , Bernhard Zabel
- , Kerby C. Oberg
- & Brendan Lee
Nature Genetics 27 , 205–208

Rights & permissionsfor article Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome . Opens in a new window.
Research | 25 July 2017 | Open
Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation
Scientific Reports 7 , 1–15

Rights & permissionsfor article Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation . Opens in a new window.
Research | 9 January 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
- Ekkehart Lausch
- , Andreas Janecke
- , Matthias Bros
- , Stefanie Trojandt
- , Yasemin Alanay
- , Corinne De Laet
- , Christian A Hübner
- , Peter Meinecke
- , Gen Nishimura
- , Mari Matsuo
- , Yoshiko Hirano
- , Sylvie Tenoutasse
- , Andrea Kiss
- , Rafael Fabiano Machado Rosa
- , Sharon L Unger
- , Raffaele Renella
- , Luisa Bonafé
- , Jürgen Spranger
- , Sheila Unger
- , Bernhard Zabel
- & Andrea Superti-Furga
Nature Genetics 43 , 132–137

Rights & permissionsfor article Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity . Opens in a new window.
Research | 1 October 1996
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
- Bärbel Dittrich
- , Karin Buiting
- , Bernd Korn
- , Sarah Rickard
- , Jessica Buxton
- , Shinji Saitoh
- , Robert D. Nicholls
- , Annemarie Poustka
- , Andreas Winterpacht
- , Bernhard Zabel
- & Bernhard Horsthemke
Nature Genetics 14 , 163–170

Rights & permissionsfor article Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene . Opens in a new window.
Research | 3 October 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- Sabine Endele
- , Georg Rosenberger
- , Kirsten Geider
- , Bernt Popp
- , Ceyhun Tamer
- , Irina Stefanova
- , Mathieu Milh
- , Fanny Kortüm
- , Angela Fritsch
- , Friederike K Pientka
- , Yorck Hellenbroich
- , Vera M Kalscheuer
- , Jürgen Kohlhase
- , Ute Moog
- , Gudrun Rappold
- , Anita Rauch
- , Hans-Hilger Ropers
- , Sarah von Spiczak
- , Holger Tönnies
- , Nathalie Villeneuve
- , Laurent Villard
- , Bernhard Zabel
- , Martin Zenker
- , Bodo Laube
- , André Reis
- , Dagmar Wieczorek
- , Lionel Van Maldergem
- & Kerstin Kutsche
Nature Genetics 42 , 1021–1026

Rights & permissionsfor article Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes . Opens in a new window.
29 June 1998
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
- Simone Schuffenhauer
- , Peter Lichtner
- , Popak Peykar-Derakhshandeh
- , Jan Murken
- , Oskar A Haas
- , Elke Back
- , Gerhard Wolff
- , Bernhard Zabel
- , Ingeborg Barisic
- , Anita Rauch
- , Zvi Borochowitz
- , Bruno Dallapiccola
- , Mark Ross
- & Thomas Meitinger
European Journal of Human Genetics 6 , 213–225

Rights & permissionsfor article Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) . Opens in a new window.
Research | 1 May 1994
Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations
- Nabeel Bardeesy
- , David Falkoff
- , Mary-Jane Petruzzi
- , Norma Nowak
- , Bernhard Zabel
- , Mohammed Adam
- , Maria C. Aguiar
- , Paul Grundy
- , Tom Shows
- & Jerry Pelletier
Nature Genetics 7 , 91–97

Rights & permissionsfor article Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations . Opens in a new window.

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Erratum: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

Against all odds: blended phenotypes of three single-gene defects

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Clinical Utility Gene Card for: campomelic dysplasia

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

CHARACTERIZATION OF CHRONIC HEPATITIS B IN CHILDHOOD USING MOLECULAR BIOLOGY TECHNIQUES

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations

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