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Steffen Lenzner

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Petro Starokadomskyy; Mathew Wallis; Iram W Zaidi; Agnes Zecha; Baozhi Chen; Jozef Gecz; Nathan Gluck; Marco Y Hein; Andreas W Kuss; Steffen Lenzner; Haiying Li; Gabriel N Maine; Xicheng Mao; Fiona J McDonald; Julie McGaughran; Hans-Hilger Ropers; Ezra Burstein
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
Hossein Najmabadi; Mohammad Mahdi Motazacker; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Wei Chen; Farkhondeh Behjati; Valeh Hadavi; Sahar Esmaeeli Nieh; Seyedeh Sedigheh Abedini; Reza Vazifehmand; Saghar Ghasemi Firouzabadi; Payman Jamali; masoom falah; Seyed Morteza Seifati; Annette Grüters; Steffen Lenzner; Lars Riff Jensen; Franz Rüschendorf; Andreas W Kuss; Hans-Hilger Ropers
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Lars Riff Jensen; Steffen Lenzner; Bettina Moser; Kristine Freude; Andreas Tzschach; Chen Wei; Jean-Pierre Fryns; Jamel Chelly; Gillian Turner; Claude Moraine; Ben Hamel; Hans-Hilger Ropers; Andreas W Kuss
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

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All Publications

2013: Petro Starokadomskyy; Mathew Wallis; Iram W Zaidi; Agnes Zecha; Baozhi Chen; Jozef Gecz; Nathan Gluck; Marco Y Hein; Andreas W Kuss; Steffen Lenzner; Haiying Li; Gabriel N Maine; Xicheng Mao; Fiona J McDonald; Julie McGaughran; Hans-Hilger Ropers; Ezra Burstein
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
The Journal of clinical investigation 2013;123(5):2244-56.
2007: Hossein Najmabadi; Mohammad Mahdi Motazacker; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Wei Chen; Farkhondeh Behjati; Valeh Hadavi; Sahar Esmaeeli Nieh; Seyedeh Sedigheh Abedini; Reza Vazifehmand; Saghar Ghasemi Firouzabadi; Payman Jamali; masoom falah; Seyed Morteza Seifati; Annette Grüters; Steffen Lenzner; Lars Riff Jensen; Franz Rüschendorf; Andreas W Kuss; Hans-Hilger Ropers
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Human genetics 2007;121(1):43-8.
2007: Lars Riff Jensen; Steffen Lenzner; Bettina Moser; Kristine Freude; Andreas Tzschach; Chen Wei; Jean-Pierre Fryns; Jamel Chelly; Gillian Turner; Claude Moraine; Ben Hamel; Hans-Hilger Ropers; Andreas W Kuss
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
European journal of human genetics : EJHG 2007;15(1):68-75.
2006: Bartlomiej Budny; Wei Chen; Heymut Omran; Manfred Fliegauf; Andreas Tzschach; Marzena Wisniewska; Lars Riff Jensen; Martine Raynaud; Sarah A Shoichet; Magda Badura; Steffen Lenzner; Anna Latos-Bielenska; Hans-Hilger Ropers
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
Human genetics 2006;120(2):171-8.
2006: Andreas Tzschach; Steffen Lenzner; Bettina Moser; Richard Reinhardt; Jamel Chelly; Jean-Pierre Fryns; Tjitske Kleefstra; Martine Raynaud; Gillian Turner; Hans-Hilger Ropers; Andreas W Kuss; Lars Riff Jensen
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Human mutation 2006;27(4):389.
2006: Masoud Garshasbi; Mohammad Mahdi Motazacker; Kimia Kahrizi; Farkhondeh Behjati; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saghar Ghasemi Firouzabadi; Christian Becker; Franz Rüschendorf; Peter Nürnberg; Andreas Tzschach; Reza Vazifehmand; Fikret Erdogan; Reinhard Ullmann; Steffen Lenzner; Andreas W Kuss; Hans-Hilger Ropers; Hossein Najmabadi
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Human genetics 2006;118(6):708-15.
2005: Frédéric Laumonnier; S Holbert; Nathalie Ronce; F Faravelli; Steffen Lenzner; C E Schwartz; James Lespinasse; Hilde Van Esch; D Lacombe; C Goizet; F Phan-Dinh Tuy; Hans van Bokhoven; Jean-Pierre Fryns; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Ben C J Hamel; Sylvain Briault
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Journal of medical genetics 2005;42(10):780-6.
2005: Lars Riff Jensen; Marion Amende; Ulf Gurok; Bettina Moser; Verena Gimmel; Andreas Tzschach; Andreas R Janecke; Gholamali Tariverdian; Jamel Chelly; Jean-Pierre Fryns; Hilde Van Esch; Tjitske Kleefstra; Ben Hamel; Claude Moraine; Jozef Gecz; Gillian Turner; Richard Reinhardt; Vera Kalscheuer; Hans-Hilger Ropers; Steffen Lenzner
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics 2005;76(2):227-36.
2005: Wei Chen; Fikret Erdogan; Hans-Hilger Ropers; Steffen Lenzner; Reinhard Ullmann
CGHPRO -- a comprehensive data analysis tool for array CGH.
BMC bioinformatics 2005;6():85.
2004: Kristine Freude; Kirsten Hoffmann; Lars Riff Jensen; Martin B Delatycki; Vincent des Portes; Bettina Moser; Ben Hamel; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Jozef Gécz; Steffen Lenzner; Vera Kalscheuer; Hans-Hilger Ropers
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
American journal of human genetics 2004;75(2):305-9.
2003: Jennifer Winter; Tanja Lehmann; Vanessa Suckow; Zofia Kijas; Andreas E Kulozik; Vera Kalscheuer; Ben Hamel; koenraad devriendt; John M Opitz; Steffen Lenzner; Hans-Hilger Ropers; Susann Schweiger
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Human genetics 2003;112(3):249-54.
2002: Steffen Lenzner; sandra prietz; Silke Feil; Ulrike A Nuber; Hans-Hilger Ropers; Wolfgang Berger
Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.
Investigative ophthalmology & visual science 2002;43(9):2825-33.
2001: U Schwahn; Nicole Paland; S Techritz; Steffen Lenzner; Wolfgang Berger
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
Human molecular genetics 2001;10(11):1177-83.
1999: R Kirschner; Thomas Rosenberg; R Schultz-Heienbrok; Steffen Lenzner; Silke Feil; Ronald Roepman; Frans P M Cremers; Hans-Hilger Ropers; Wolfgang Berger
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
Human molecular genetics 1999;8(8):1571-8.
1999: B Brunner; T Todt; Steffen Lenzner; Karen Stout; U Schulz; Hans-Hilger Ropers; Vera Kalscheuer
Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1.
Genome research 1999;9(5):437-48.
1998: U Schwahn; Steffen Lenzner; J Dong; Silke Feil; Bernd Hinzmann; Gerard van Duijnhoven; R Kirschner; Myriam Hemberger; Arthur A B Bergen; Thomas Rosenberg; Alfred J L G Pinckers; Reinald Fundele; André Rosenthal; Frans P M Cremers; Hans-Hilger Ropers; Wolfgang Berger
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Nature genetics 1998;19(4):327-32.