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Andreas Tzschach

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A Riess; Olaf Riess; E Rossier; M Alber; S Beck-Woedl; Andreas Dufke; D Gläser; Veronka Horber; R Krüger; Andreas Tzschach
Novel SLC9A6 mutations in two families with Christianson syndrome.
Anastasia Gazou; Ute Grasshoff; Anna Jauch; Angelika Riess; Olaf Riess; Karin Schäferhoff; Michael Bonin; Andreas Tzschach
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
Stella-Amrei Kunde; Nils Rademacher; Andreas Tzschach; Reinhard Ullmann; Eberhard Wiedersberg; Vera M Kalscheuer; Sarah A Shoichet
Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

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2013: A Riess; Olaf Riess; E Rossier; M Alber; S Beck-Woedl; Andreas Dufke; D Gläser; Veronka Horber; R Krüger; Andreas Tzschach
Novel SLC9A6 mutations in two families with Christianson syndrome.
Clinical genetics 2013;83(6):596-7.
2013: Anastasia Gazou; Ute Grasshoff; Anna Jauch; Angelika Riess; Olaf Riess; Karin Schäferhoff; Michael Bonin; Andreas Tzschach
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
American journal of medical genetics. Part A 2013;161(4):860-4.
2013: Stella-Amrei Kunde; Nils Rademacher; Andreas Tzschach; Reinhard Ullmann; Eberhard Wiedersberg; Vera M Kalscheuer; Sarah A Shoichet
Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.
Human genetics 2013;132(4):461-71.
2013: Gerda Neubert; Renate Nickel; Andreas Tzschach; Katja von Au; Katrin Drossel; Denise Horn; Angela M Kaindl
Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.
Gene 2013;512(2):453-5.
2012: Lingli Huang; Lachlan A Jolly; Vera M Kalscheuer; Raman Kumar; Hans-Hilger Ropers; Cheryl Shoubridge; Andreas Tzschach; Dagmar Wieczorek; Saffron Willis-Owen; Monika Cohen; Mark A Corbett; Evelyn Douglas; Michael Field; Guy Froyen; Alison Gardner; Stefan A Haas; Anna Hackett; Hao Hu; Jozef Gecz
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
American journal of human genetics 2012;91(4):694-702.
2012: Angelika Riess; Olaf Riess; Karin Schäferhoff; Michael Bonin; Ute Grasshoff; Veronka Horber; Andreas Tzschach
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
American journal of medical genetics. Part A 2012;158A(10):2587-90.
2012: A Riess; O Riess; H Skladny; S Beck-Woedl; Andreas Dufke; B Fode; R Klaes; Andreas Tzschach
Mirror-image asymmetry in monozygotic twins with kabuki syndrome.
Molecular syndromology 2012;3(2):94-7.
2012: Andreas Tzschach; Markus Wolff; Karin Schäferhoff; Andrea Bevot; Michael Bonin; Andreas Dufke; Ute Grasshoff; Karin Haas-Lude; Olaf Riess
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
American journal of medical genetics. Part A 2012;158A(7):1709-12.
2012: Lia Abbasi-Moheb; Seyedeh Sedigheh Abedini; Sebahattin Cirak; Kirsten Cremer; Sahar Esmaeeli-Nieh; Masoud Garshasbi; Melanie Gonsior; Kimia Kahrizi; Sara Mertel; Mohammad Mahdi Motazacker; Hossein Najmabadi; Leyla Nouri-Vahid; H Hilger Ropers; Stephan J Sigrist; Andreas Tzschach; Robert Weißmann; Dagmar Wieczorek; Andreas W Kuss
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
American journal of human genetics 2012;90(5):847-55.
2012: Diana Braunholz; Dinah Clark; Andreas Dalski; Matthew A Deardorff; Juliane Eckhold; Christopher T Fincher; Gabriele Gillessen-Kaesbach; María Concepcion Gil-Rodríguez; Raoul Hennekam; Melanie Hullings; Maninder Kaur; ANTONIE KLINE; Ian D Krantz; Janusz Limon; Elizabeth Loy; Mark B Mallozzi; Abhinav Rampuria; Andreas Tzschach; Jolanta Wierzba; Melanie Albrecht; Frank J Kaiser
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
European journal of human genetics : EJHG 2012;20(3):271-6.
2011: Gertrud Strobl-Wildemann; Hao Hu; Vera M Kalscheuer; Hans-Hilger Ropers; Klaus Wrogemann; Andreas Tzschach
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
American journal of medical genetics. Part A 2011;155A(12):3067-70.
2011: Andreas Tzschach; Reinhard Ullmann; Georg Weber; Fernand Pauly; Wolfgang Reith; Mohammed Ghiath Shamdeen; Alischo Ahmed; Oliver Decker-Schwering; Thomas Martin; Barbara Oehl-Jaschkowitz
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
American journal of medical genetics. Part A 2011;155A(11):2771-4.
2011: Hao Hu; Tim B Hucho; Kimia Kahrizi; Ideh Bahman; Wei Chen; Katinka Eggers; Masoud Garshasbi; Rita Gerardy-Schahn; Masoumeh Hosseini; Mohammad Mahdi Motazacker; Martina Mühlenhoff; Hossein Najmabadi; H Hilger Ropers; Andreas Tzschach; Klaus Wrogemann; Andreas W Kuss
ST3GAL3 mutations impair the development of higher cognitive functions.
American journal of human genetics 2011;89(3):407-14.
2011: Masoud Garshasbi; Sahel Hemmati; Masoumeh Hosseini; Hao Hu; Kimia Kahrizi; Hossein Najmabadi; Leila Nouri Vahid; Hans-Hilger Ropers; Andreas Tzschach; Masoumeh Falah; Andreas W Kuss
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
American journal of medical genetics. Part A 2011;155A(8):1976-80.
2011: Changhui Pak; Hans-Hilger Ropers; Subhabrata Sanyal; Sara N Stahley; Andreas Tzschach; Kathryn R Williams; Sara W Leung; Guanglu Liu; Kenneth H Moberg; Marzieh Mohseni; Hossein Najmabadi; John J Noto; Seyedeh Sedigheh Abedini; Luciano H Apponi; Gary J. Bassell; Farkhondeh Behjati; Sharon Burdick; Anita H Corbett; Yue Feng; Masoud Garshasbi; Christina Gross; Hao Hu; Brenda Huang; Lars R Jensen; Kimia Kahrizi; Seth M Kelly; Andreas W Kuss
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(30):12390-5.
2011: Muhammad Arshad Rafiq; Annapoorani Ramiah; Hans-Hilger Ropers; Andreas Tzschach; Reinhard Ullmann; John B Vincent; Rosanna Weksberg; Yong Xiang; Ghazanfar Ali; Muhammad Ansar; Muhammad Ayub; Masoud Garshasbi; Hao Hu; Gisele E Ishak; Kimia Kahrizi; Nadir Ali Kerio; Muzammil Ahmad Khan; Andreas W Kuss; Khalid Mahmood; Kelley W Moremen; Farooq Naeem; Abdul Noor; Lucia Püttmann; Hossein Najmabadi
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
American journal of human genetics 2011;89(1):176-82.
2011: Lars Riff Jensen; Wei Chen; Bettina Moser; Bettina Lipkowitz; Christopher Schroeder; Luciana Musante; Andreas Tzschach; Vera Kalscheuer; Ilaria Meloni; Martine Raynaud; Hilde Van Esch; Jamel Chelly; Arjan P M de Brouwer; Anna Hackett; Sigrun van der Haar; Wolfram Henn; Jozef Gecz; Olaf Riess; Michael Bonin; Richard Reinhardt; Hans-Hilger Ropers; Andreas W Kuss
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
European journal of human genetics : EJHG 2011;19(6):717-20.
2011: Nils Rademacher; Melanie Hambrock; Ute Fischer; Bettina Moser; Berten Ceulemans; Wolfgang Lieb; Rainer Boor; Irina Stefanova; Gabriele Gillessen-Kaesbach; Charlotte Runge; Georg Christoph Korenke; Stefanie Spranger; Franco Laccone; Andreas Tzschach; Vera Kalscheuer
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
Neurogenetics 2011;12(2):165-7.
2011: Andreas W Kuss; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Farkhondeh Behjati; Hossein Darvish; Lia Abbasi-Moheb; Lucia Püttmann; Agnes Zecha; Robert Weissmann; Hao Hu; Marzieh Mohseni; Seyedeh Sedigheh Abedini; Anna Rajab; Christoph Hertzberg; Dagmar Wieczorek; Reinhard Ullmann; Saghar Ghasemi-Firouzabadi; Susan Banihashemi; Sanaz Arzhangi; Valeh Hadavi; Gholamreza Bahrami-Monajemi; Mahboubeh Kasiri; masoom falah; Pooneh Nikuei; Atefeh Dehghan; Masoumeh Sobhani; Payman Jamali; Hans-Hilger Ropers; Hossein Najmabadi
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Human genetics 2011;129(2):141-8.
2011: Nuria Rivera-Brugués; Beate Albrecht; Dagmar Wieczorek; Heinrich Schmidt; Thomas Keller; Ina Göhring; Arif B Ekici; Andreas Tzschach; Masoud Garshasbi; Kathlen Franke; Norman Klopp; H-Erich Wichmann; Thomas Meitinger; Tim M Strom; Maja Hempel
Cohen syndrome diagnosis using whole genome arrays.
Journal of medical genetics 2011;48(2):136-40.
2011: Cecile Pagan; Hany Goubran Botros; Karine Poirier; Anne Dumaine; Stéphane Jamain; Sarah Moreno; Arjan de Brouwer; Hilde Van Esch; Richard Delorme; Jean-Marie Launay; Andreas Tzschach; Vera Kalscheuer; Didier Lacombe; Sylvain Briault; Frédéric Laumonnier; Martine Raynaud; Bregje W van Bon; Marjolein H Willemsen; Marion Leboyer; Jamel Chelly; Thomas Bourgeron
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
BMC medical genetics 2011;12():17.
2011: Kimia Kahrizi; Cougar Hao Hu; Masoud Garshasbi; Seyedeh Sedigheh Abedini; Shirin Ghadami; Roxana Kariminejad; Reinhard Ullmann; Wei Chen; H-Hilger Ropers; Andreas W Kuss; Hossein Najmabadi; Andreas Tzschach
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
European journal of human genetics : EJHG 2011;19(1):115-7.
2010: H Darvish; S Esmaeeli-Nieh; G B Monajemi; M Mohseni; S Ghasemi-Firouzabadi; Seyedeh Sedigheh Abedini; I Bahman; P Jamali; S Azimi; F Mojahedi; A Dehghan; Y Shafeghati; A Jankhah; masoom falah; M J Soltani Banavandi; M Ghani-Kakhi; Masoud Garshasbi; F Rakhshani; A Naghavi; Andreas Tzschach; H Neitzel; Hans-Hilger Ropers; Andreas W Kuss; Farkhondeh Behjati; Kimia Kahrizi; Hossein Najmabadi
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Journal of medical genetics 2010;47(12):823-8.
2010: Yousef Shafeghati; Kimia Kahrizi; Hossein Najmabadi; Andreas Walter Kuss; Hans-Hilger Ropers; Andreas Tzschach
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
European journal of pediatrics 2010;169(12):1535-9.
2010: Ariana Kariminejad; Roxana Kariminejad; Andreas Tzschach; Hamid Najafi; Alischo Ahmed; Reinhard Ullmann; Hans-Hilger Ropers; Mohamad Hasan Kariminejad
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.
American journal of medical genetics. Part A 2010;152A(10):2651-5.
2010: Joanna Walczak-Sztulpa; Jonathan Eggenschwiler; Daniel Osborn; Desmond A Brown; francesco emma; Claus Klingenberg; Raoul C Hennekam; Giuliano Torre; Masoud Garshasbi; Andreas Tzschach; Malgorzata Szczepanska; Marian Krawczynski; Jacek Zachwieja; Danuta Zwolinska; Philip L Beales; Hans-Hilger Ropers; Anna Latos-Bielenska; Andreas W Kuss
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
American journal of human genetics 2010;86(6):949-56.
2010: Andreas Tzschach; Corinna Menzel; Fikret Erdogan; Erman ISTIFLI; Martin Rieger; Angela Ovens-Raeder; Alfons Macke; Hans-Hilger Ropers; Reinhard Ullmann; Vera Kalscheuer
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
American journal of medical genetics. Part A 2010;152A(4):1008-12.
2010: Andreas Tzschach; Anne-Marie Bisgaard; Maria Kirchhoff; Luitgard M Graul-Neumann; Heidemarie Neitzel; Stephanie Page; Alischo Ahmed; Ines Müller; Fikret Erdogan; Hans-Hilger Ropers; Vera Kalscheuer; Reinhard Ullmann
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
European journal of human genetics : EJHG 2010;18(3):291-5.
2010: Maila Giannandrea; Veronica Bianchi; Maria Lidia Mignogna; Alessandra Sirri; Salvatore Carrabino; Errico D'Elia; Matteo Vecellio; Silvia Russo; Francesca Cogliati; Lidia Larizza; Hans-Hilger Ropers; Andreas Tzschach; Vera Kalscheuer; Barbara Oehl-Jaschkowitz; Cindy Skinner; Charles E Schwartz; Jozef Gecz; Hilde Van Esch; Martine Raynaud; Jamel Chelly; Arjan de Brouwer; Daniela Toniolo; Patrizia D'Adamo
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
American journal of human genetics 2010;86(2):185-95.
2010: Lars R Jensen; Heinz Bartenschlager; Sinitdhorn Rujirabanjerd; Andreas Tzschach; Astrid Nümann; Andreas R Janecke; Ralf Spörle; Sigmar Stricker; Martine Raynaud; John Nelson; Anna Hackett; Jean-Pierre Fryns; Jamel Chelly; Arjan Pm de Brouwer; Ben Hamel; Jozef Gecz; Hans-Hilger Ropers; Andreas W Kuss
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
PathoGenetics 2010;3(1):2.
2009: Hao Hu; Vera Kalscheuer; Corinna Menzel; Martine Raynaud; Hugues Richard; Hilger Ropers; Andreas Tzschach; Hans Van Bokhoven; Klaus Wrogemann; Melanie Bienek; Jamel Chelly; Guy Froyen; Stefan A Haas; Wei Chen
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
The HUGO journal 2009;3(1-4):41-9.
2009: Hao Hu; Klaus Wrogemann; Vera Kalscheuer; Andreas Tzschach; Hugues Richard; Stefan A Haas; Corinna Menzel; Melanie Bienek; Guy Froyen; Martine Raynaud; Hans Van Bokhoven; Jamel Chelly; Hilger Ropers; Wei Chen
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
The HUGO journal 2009;3(1-4):83.
2009: Asif Mir; Liana Kaufman; Abdul Noor; Mahdi M Motazacker; Talal Jamil; Matloob Azam; Kimia Kahrizi; Muhammad Arshad Rafiq; Rosanna Weksberg; Tanveer Nasr; Farooq Naeem; Andreas Tzschach; Andreas W Kuss; Gisele E Ishak; Dan Doherty; H Hilger Ropers; A James Barkovich; Hossein Najmabadi; Muhammad Ayub; John B Vincent
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
American journal of human genetics 2009;85(6):909-15.
2009: Ariana Kariminejad; Roxana Kariminejad; Andreas Tzschach; Reinhard Ullmann; Alisho Ahmed; Alaleh Asghari Roodsari; Shadab Salehpour; Fariba Afroozan; Hans-Hilger Ropers; Mohammad Hasan Kariminejad
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.
American journal of medical genetics. Part A 2009;149A(7):1544-9.
2009: Andreas Tzschach; C Ramel; A Kron; B Seipel; C Wüster; U Cordes; Thomas Liehr; Maria Hoeltzenbein; Corinna Menzel; Hans-Hilger Ropers; Reinhard Ullmann; Vera Kalscheuer; J Decker; D Steinberger
Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology 2009;32(3):226-30.
2009: Dorien Lugtenberg; Tjitske Kleefstra; Astrid R Oudakker; Willy M Nillesen; Helger G Yntema; Andreas Tzschach; Martine Raynaud; Dietz Rating; Hubert Journel; Jamel Chelly; Cyril Goizet; Didier Lacombe; Jean-Michel Pedespan; Bernard Echenne; Gholamali Tariverdian; Declan O'Rourke; Mary D King; Andrew Green; Margriet van Kogelenberg; Hilde Van Esch; Jozef Gecz; Ben C J Hamel; Hans van Bokhoven; Arjan de Brouwer
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
European journal of human genetics : EJHG 2009;17(4):444-53.
2009: Thomas E Neumann; Judith Allanson; Ines Kavamura; Bronwyn Kerr; Giovanni Neri; Jacqueline Noonan; Viviana Cordeddu; Kate Gibson; Andreas Tzschach; Gabriele Krüger; Maria Hoeltzenbein; Timm O Goecke; Hans Gerd Kehl; Beate Albrecht; Klaudiusz Luczak; Maria M Sasiadek; Luciana Musante; Rohan Laurie; Hartmut Peters; Marco Tartaglia; Martin Zenker; Vera Kalscheuer
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
European journal of human genetics : EJHG 2009;17(4):420-5.
2009: Luitgard M Graul-Neumann; Karola M Stieler; Ulrike Blume-Peytavi; Andreas Tzschach
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome).
American journal of medical genetics. Part A 2009;149A(4):746-50.
2009: Andreas Tzschach; Luitgard M Graul-Neumann; Kateryna Konrat; Reyk Richter; Grit Ebert; Reinhard Ullmann; Heidemarie Neitzel
Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.
American journal of medical genetics. Part A 2009;149A(2):242-5.
2009: Wenke Seifert; Muriel Holder-Espinasse; Jirko Kühnisch; Kimia Kahrizi; Andreas Tzschach; Masoud Garshasbi; Hossein Najmabadi; Andreas Walter Kuss; Wolfram Kress; Geneviève Laureys; Bart Loeys; Eva Brilstra; Grazia M S Mancini; Hélène Dollfus; Karin Dahan; Kira Apse; Hans Christian Hennies; Denise Horn
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Human mutation 2009;30(2):E404-20.
2009: Vera Kalscheuer; Luciana Musante; Cheng Fang; Kirsten Hoffmann; Celine Fuchs; Eloisa Carta; Emma Deas; Kanamarlapudi Venkateswarlu; Corinna Menzel; Reinhard Ullmann; Niels Tommerup; Leda Dalprà; Andreas Tzschach; Angelo Selicorni; Bernhard Lüscher; Hans-Hilger Ropers; Kirsten Harvey; Robert J Harvey
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Human mutation 2009;30(1):61-8.
2008: Fikret Erdogan; L A Larsen; L Zhang; Zeynep Tümer; Niels Tommerup; Wei Chen; J R Jacobsen; M Schubert; J Jurkatis; Andreas Tzschach; Hans-Hilger Ropers; Reinhard Ullmann
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
Journal of medical genetics 2008;45(11):704-9.
2008: Suzanna Gerarda Maria Frints; Steffen Lenzner; Marijke Bauters; Lars Riff Jensen; Hilde Van Esch; Vincent des Portes; Ute Moog; Merryn Victor Erik Macville; Kees van Roozendaal; Constance Theresia Rimbertha Maria Schrander-Stumpel; Andreas Tzschach; Peter Marynen; Jean-Pierre Fryns; Ben Hamel; Hans van Bokhoven; Jamel Chelly; Chérif Beldjord; Gillian Turner; Jozef Gecz; Claude Moraine; Martine Raynaud; Hans-Hilger Ropers; Guy Froyen; Andreas Walter Kuss
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
European journal of human genetics : EJHG 2008;16(9):1029-37.
2008: Andreas Tzschach; Sigrid Tinschert; Elke Kaminsky; Eugen Lusga; Stefan Mundlos; Luitgard M Graul-Neumann
Czech dysplasia: report of a large family and further delineation of the phenotype.
American journal of medical genetics. Part A 2008;146A(14):1859-64.
2008: Wei Chen; Vera Kalscheuer; Andreas Tzschach; Corinna Menzel; Reinhard Ullmann; Marcel Holger Schulz; Fikret Erdogan; Na Li; Zofia Kijas; Ger Arkesteijn; Isidora Lopez Pajares; Margret Goetz-Sothmann; Uwe Heinrich; Imma Rost; Andreas Dufke; Ute Grasshoff; Birgitta Glaeser; Martin Vingron; Hans-Hilger Ropers
Mapping translocation breakpoints by next-generation sequencing.
Genome research 2008;18(7):1143-9.
2008: Masoud Garshasbi; Valeh Hadavi; Haleh Habibi; Kimia Kahrizi; Roxana Kariminejad; Farkhondeh Behjati; Andreas Tzschach; Hossein Najmabadi; Hans-Hilger Ropers; Andreas W Kuss
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
American journal of human genetics 2008;82(5):1158-64.
2008: Andreas Tzschach; Christine Kelbova; Sabine Weidensee; Hartmut Peters; Hans-Hilger Ropers; Reinhard Ullmann; Fikret Erdogan; Jan Jurkatis; Corinna Menzel; Vera Kalscheuer; Stephanie Demuth
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Ophthalmic genetics 2008;29(1):37-40.
2008: Joanna Walczak-Sztulpa; Marzena Wisniewska; Anna Latos-Bielenska; Maja Linné; Christina Kelbova; Britta Belitz; Lutz Pfeiffer; Vera Kalscheuer; Fikret Erdogan; Andreas W Kuss; Hans-Hilger Ropers; Reinhard Ullmann; Andreas Tzschach
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
American journal of medical genetics. Part A 2008;146(3):337-42.
2008: Lia Abbasi Moheb; Andreas Tzschach; Masoud Garshasbi; Kimia Kahrizi; Hossein Darvish; Yaser Heshmati; Ali Reza Pouya; Hossein Najmabadi; Hans-Hilger Ropers; Andreas W Kuss
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
European journal of human genetics : EJHG 2008;16(2):270-3.
2008: Andreas Tzschach; Wei Chen; Fikret Erdogan; Adelheid Hoeller; Hans-Hilger Ropers; Claudio Castellan; Reinhard Ullmann; Albert Schinzel
Characterization of interstitial Xp duplications in two families by tiling path array CGH.
American journal of medical genetics. Part A 2008;146A(2):197-203.
2007: Mohammad Mahdi Motazacker; Benjamin Rainer Rost; Tim B Hucho; Masoud Garshasbi; Kimia Kahrizi; Reinhard Ullmann; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saeid Hosseini Amini; Chandan Goswami; Andreas Tzschach; Lars Riff Jensen; Dietmar Schmitz; Hans-Hilger Ropers; Hossein Najmabadi; Andreas W Kuss
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
American journal of human genetics 2007;81(4):792-8.
2007: Harry Scherthan; Michael Abend; Kerstin Müller; Christina Dr. Beinke; Herbert Braselmann; Horst Zitzelsberger; Frank M Köhn; Hans Pillekamp; Ralf Schiener; Oliver Das; Ralf Uwe Peter; Gerhard Herzog; Andreas Tzschach; Harald D Dörr; Theodor M Fliedner; Viktor Meineke
Radiation-induced late effects in two affected individuals of the Lilo radiation accident.
Radiation research 2007;167(5):615-23.
2007: Vera Kalscheuer; David FitzPatrick; Niels Tommerup; Merete Bugge; Erik Niebuhr; Luitgard M Neumann; Andreas Tzschach; Sarah A Shoichet; Corinna Menzel; Fikret Erdogan; Ger Arkesteijn; Hans-Hilger Ropers; Reinhard Ullmann
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Human genetics 2007;121(3-4):501-9.
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: Andreas Tzschach; Corinna Menzel; Fikret Erdogan; Marei Schubert; Maria Hoeltzenbein; Gotthold Barbi; Christine Petzenhauser; Hans-Hilger Ropers; Reinhard Ullmann; Vera Kalscheuer
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
American journal of medical genetics. Part A 2007;143(4):333-7.
2007: Fikret Erdogan; Reinhard Ullmann; Wei Chen; Marei Schubert; Sabine Adolph; Claus Hultschig; Vera Kalscheuer; Hans-Hilger Ropers; Christiane Spaich; Andreas Tzschach
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
American journal of medical genetics. Part A 2007;143(2):172-8.
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: Andreas Tzschach; Maria Hoeltzenbein; Kirsten Hoffmann; Corinna Menzel; Alexander Beyer; Volker Ocker; Goetz Wurster; Martine Raynaud; Hans-Hilger Ropers; Vera Kalscheuer; Helmut Heilbronner
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
European journal of human genetics : EJHG 2006;14(12):1317-20.
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; Ines Krause-Plonka; Corinna Menzel; Andreas Knoblauch; Holger Toennies; Maria Hoeltzenbein; Michael Radke; Hans-Hilger Ropers; Vera Kalscheuer
Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
American journal of medical genetics. Part A 2006;140(10):1108-10.
2006: Kai-Lin Yan; Xue-Jun Zhang; Zhi-Min Wang; Sen Yang; Guo-Long Zhang; Jian Wang; Feng-Li Xiao; Min Gao; Yong Cui; Jian-Jun Chen; Xing Fan; Liang-Dan Sun; Qing Xia; Kai-Yue Zhang; Zhen-Min Niu; Shi-Jie Xu; Andreas Tzschach; Hilger Ropers; Wei Huang; Jian-Jun Liu
A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris.
The Journal of investigative dermatology 2006;126(5):1003-5.
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: Andreas Tzschach; Ines Krause-Plonka; Corinna Menzel; Vera Kalscheuer; Holger Toennies; Harry Scherthan; Andreas Knoblauch; Michael Radke; Hans-Hilger Ropers; Maria Hoeltzenbein
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
American journal of medical genetics. Part A 2006;140(5):496-502.
2006: Andreas Tzschach; K Hoffmann; Maria Hoeltzenbein; Iben Bache; Niels Tommerup; Christiane Bommer; H Körner; Vera Kalscheuer; Hans-Hilger Ropers
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris.
Clinical genetics 2006;69(2):189-93.
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: 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.
2002: Dieter Kotzot; Andreas Dufke; Andreas Tzschach; Iris-Tatjana Baeckert-Sifeddine; Martin Geppert; Heidrun Holland; Jobst M Florus; Ursula G Froster
Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype.
American journal of medical genetics 2002;112(1):51-5.
2001: Andreas Tzschach; B Thamm; B Imthurn; W Weber; H Alexander; Hans-Juergen Glander; Ursula G Froster
Absence of Yq microdeletions in infertile men.
Archives of andrology 2001;47(3):167-71.