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Stylianos Antonarakis

Research Profile

Anatomy

Chromosomes, Human, Pair 21

Procedures

Concepts & Ideas

Chemicals & Drugs

Genes & Molecular Sequences

Living Beings

Mouse

Disorders

Down's Syndrome

Physiology

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Publications

TOP 3
Konstantin Yu Popadin; Maria Baranova; Thomas Junier; Sergey I Nikolaev; Stylianos E Antonarakis
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes.
Sergey I Nikolaev; Ioannis S Pateras; Daniel Robyr; Janna Saarela; Federico Santoni; Sotirios K Sotiriou; Stavros Sougioultzis; Henrikki Almusa; Stylianos E Antonarakis; Henrik Edgren; Vassilis G Gorgoulis; Michel Guipponi; Thanos D Halazonetis
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.
Asma Tlili; Renaud Touraine; Bregje van Bon; Björn Menten; Marie-Claude Potier; Clémentine Ripoll; Anne Ronan; Samantha Stora; Stylianos E Antonarakis; Anne Badel; Eva Benabou; Henri Bléhaut; Nele Bockaert; Dominique Campion; Bert de Vries; jean maurice delabar; Joseph Gecz; Yann Grattau; Alexander Hoischen; Nathalie Janel
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients.

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All Publications

2013: Konstantin Yu Popadin; Maria Baranova; Thomas Junier; Sergey I Nikolaev; Stylianos E Antonarakis
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes.
Molecular biology and evolution 2013;30(2):347-55.
2012: Sergey I Nikolaev; Ioannis S Pateras; Daniel Robyr; Janna Saarela; Federico Santoni; Sotirios K Sotiriou; Stavros Sougioultzis; Henrikki Almusa; Stylianos E Antonarakis; Henrik Edgren; Vassilis G Gorgoulis; Michel Guipponi; Thanos D Halazonetis
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.
Cancer research 2012;72(23):6279-89.
2012: Asma Tlili; Renaud Touraine; Bregje van Bon; Björn Menten; Marie-Claude Potier; Clémentine Ripoll; Anne Ronan; Samantha Stora; Stylianos E Antonarakis; Anne Badel; Eva Benabou; Henri Bléhaut; Nele Bockaert; Dominique Campion; Bert de Vries; jean maurice delabar; Joseph Gecz; Yann Grattau; Alexander Hoischen; Nathalie Janel
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients.
Molecular neurobiology 2012;46(2):297-303.
2012: Uppala Radhakrishna; Uppala Ratnamala; Raminder Singh; Jasjit Banwait; Lucia Bartoloni; Dhundy K Bastola; Samuel Deutsch; Kaid Johar; Murali R Kuracha; Swapan K Nath; Stylianos E Antonarakis
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
European journal of human genetics : EJHG 2012;20(10):1032-6.
2012: Christelle Borel; Emmanouil T Dermitzakis; Maryline Gagnebin; Audrey Letourneau; Eugenia Migliavacca; M Reza Sailani; Andrew J Sharp; Frédérique Béna; Stylianos E Antonarakis
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.
Human mutation 2012;33(8):1302-9.
2012: Jack-Christophe Cossec; Fabrice de Chaumont; Jean M Delabar; Gilbert Di Paolo; Charles Duyckaerts; Yann Grattau; Alexander Hoischen; Jérémie Lavaur; Magalie Lecourtois; Clotilde Mircher; Jean-Christophe Olivomarin; Clémentine Ripoll; Isabelle Rivals; Samantha Stora; Joris A Veltman; Stylianos E Antonarakis; Diego E Berman; Marie-Claude Potier
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Human molecular genetics 2012;21(14):3156-72.
2012: Maude Schneider; Martial Van der Linden; Bronwyn Glaser; Christine Monso-Hinard; Eleonora Rizzi; Stylianos E Antonarakis; Lucia Bartoloni; Sophie Dahoun; Martin Debbané; Stephan Eliez
Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome.
Psychiatry research 2012;196(2-3):277-84.
2012: Uppala Radhakrishna; Uppala Ratnamala; Charles E Schwartz; Andrew J Sharp; Celi Sun; David B Everman; Maryline Gagnebin; Amit K Maiti; Ken McElreavey; Jeffrey C Murray; Swapan K Nath; Heather L Newkirk; Stylianos E Antonarakis; Frédérique Béna; Merlin G Butler
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Journal of medical genetics 2012;49(4):270-6.
2012: Sergey I Nikolaev; Donata Rimoldi; Daniel Robyr; Daniel Speiser; Brian J Stevenson; Armand Valsesia; Ioannis Xenarios; Vincent Zoete; Jacques Beckmann; Olesya Bukach; Corinne Gehrig; Michel Guipponi; Thanos D Halazonetis; Keith Harshman; Christian Iseli; Victor Jongeneel; Olivier Michielin; Katja Muehlethaler; Stylianos E Antonarakis
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nature genetics 2012;44(2):133-9.
2012: Eva Klopocki; Ulrike Kordass; Ingo Kurth; Karina Lezirovitz; Silke Lohan; Outi Mäkitie; Regina Celia Mingroni Netto; Mohammed Naveed; Charlotte W Ockeloen; Uppala Radhakrishna; Anna Rajab; Hitesh Shah; Renata Soares Thiele de Aguiar; Sigmar Stricker; Matthew Warman; Stylianos E Antonarakis; koenraad devriendt; Sandra C Doelken; Rolf Habenicht; Maja Hempel; Denise Horn; Aleksander Jamsheer; Stefan Mundlos
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Journal of medical genetics 2012;49(2):119-25.
2012: Homa Attar; Karen Bedard; Christelle Borel; jean maurice delabar; Emmanouil T Dermitzakis; Patrick Descombes; Samuel Deutsch; Yann Dupré; Maryline Gagnebin; Karl-Heinz Krause; Divya Mehta; Thomas Meitinger; Eugenia Migliavacca; Holger Prokisch; Erich Wichmann; Stylianos E Antonarakis
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.
PloS one 2012;7(8):e43566.
2012: Audrey Letourneau; Stylianos E Antonarakis
Genomic determinants in the phenotypic variability of Down syndrome.
Progress in brain research 2012;197():15-28.
2012: Periklis Makrythanasis; Michael Morris; Stylianos E Antonarakis; Frédérique Béna; Sophie Dahoun; stefania gimelli; Armand Bottani
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
European journal of medical genetics 2012;55(1):63-6.
2011: Andrew J Sharp; ELISAVET VASILIKI STATHAKI; Manisha Brahmachary; Yann Dupre; Eugenia Migliavacca; Stephen B Montgomery; Stylianos E Antonarakis
DNA methylation profiles of human active and inactive X chromosomes.
Genome research 2011;21(10):1592-600.
2011: Uppala Ratnamala; Rakesh Rawal; Raminder Singh; Satti Vishnupriya; Terri L Young; Somesh Aggarwal; Stylianos E Antonarakis; Lucia Bartoloni; Pamini Himabindu; Robert Lyle; Michael Morris; Swapan K Nath; Prasuna Paluru; Ariane Paoloni-Giacobino; Vittal Rao; Uppala Radhakrishna
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
Investigative ophthalmology & visual science 2011;52(9):6814-9.
2011: Siv Fokstuen; Sabino Iliceto; Xavier Jeanrenaud; René Lerch; François Mach; Paola Melacini; Analia Munoz; Cemil Ozcelik; Andreas Perrot; Claudine Rieubland; Ulrich Sigwart; Stylianos E Antonarakis; Lothar Faber; Martin Farr; Jean-Louis Blouin
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
Journal of medical genetics 2011;48(8):572-6.
2011: Lydie Fasquelle; Hamish Scott; Marc Lenoir; Jing Wang; Guy Rebillard; Sophie Gaboyard-Niay; Stéphanie Venteo; Florence François; Anne-Laure Mausset-Bonnefont; Stylianos E Antonarakis; Elizabeth Neidhart; Christian Chabbert; Jean-Luc Puel; Michel Guipponi; Benjamin Delprat
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
The Journal of biological chemistry 2011;286(19):17383-97.
2011: Armand Valsesia; Donata Rimoldi; Danielle Martinet; Mark Ibberson; Paola Benaglio; Manfredo Quadroni; Patrice Waridel; Muriel Gaillard; Mireille Pidoux; Blandine Rapin; C Rivolta; Ioannis Xenarios; Andrew J G Simpson; Stylianos E Antonarakis; Jacques Beckmann; Victor Jongeneel; Christian Iseli; Brian J Stevenson
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
PloS one 2011;6(4):e18369.
2011: Periklis Makrythanasis; Stylianos E Antonarakis
From sequence to functional understanding: the difficult road ahead.
Genome medicine 2011;3(4):21.
2011: Daniel Robyr; Marc Friedli; Corinne Gehrig; Mélanie Arcangeli; Marilyn Marin; Michel Guipponi; Laurent Farinelli; Isabelle Barde; Sonia Verp; Didier Trono; Stylianos E Antonarakis
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences.
PloS one 2011;6(3):e17634.
2011: Christelle Borel; Samuel Deutsch; Audrey Letourneau; Eugenia Migliavacca; Stephen B Montgomery; Antigone S Dimas; Charles E Vejnar; Homa Attar; Maryline Gagnebin; Corinne Gehrig; Emilie Falconnet; Yann Dupré; Emmanouil T Dermitzakis; Stylianos E Antonarakis
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Genome research 2011;21(1):68-73.
2011: stefania gimelli; P Makrythanasis; C Stouder; Stylianos E Antonarakis; A Bottani; F Béna
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.
European journal of medical genetics 2011;54(1):94-6.
2010: Katheleen Gardiner; Yann Herault; Ira T Lott; Stylianos E Antonarakis; Roger H Reeves; Mara Dierssen
Down syndrome: from understanding the neurobiology to therapy.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(45):14943-5.
2010: Alexandre Fort; Christelle Borel; Eugenia Migliavacca; Stylianos E Antonarakis; Richard J Fish; Marguerite Neerman-Arbez
Regulation of fibrinogen production by microRNAs.
Blood 2010;116(14):2608-15.
2010: Andrew J Sharp; Eugenia Migliavacca; Yann Dupre; ELISAVET VASILIKI STATHAKI; Mohammad Reza Sailani; Alessandra Baumer; Albert Schinzel; Deborah J Mackay; David O Robinson; Gilda Cobellis; Luigi Cobellis; Han G Brunner; Bernhard Steiner; Stylianos E Antonarakis
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
Genome research 2010;20(9):1271-8.
2010: stefania gimelli; Maria Teresa Divizia; Margherita Lerone; Lara Bricco; Frédérique Béna; Stylianos E Antonarakis; Roberto Ravazzolo; Giorgio Gimelli
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.
American journal of medical genetics. Part A 2010;152A(8):2130-3.
2010: P Makrythanasis; Isabelle Moix; stefania gimelli; J Fluss; K Aliferis; Stylianos E Antonarakis; Michael Morris; F Béna; Armand Bottani
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
Clinical genetics 2010;78(2):175-80.
2010: Philipp Kapranov; Fatih Ozsolak; Sang Woo Kim; Sylvain Foissac; Doron Lipson; Chris Hart; Steve Roels; Christelle Borel; Stylianos E Antonarakis; A Paula Monaghan; Bino John; Patrice M Milos
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism.
Nature 2010;466(7306):642-6.
2010: Bronwyn Glaser; Martin Debbané; Marie-Christine Ottet; Patrik Vuilleumier; Pascal Zesiger; Stylianos E Antonarakis; Stephan Eliez
Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndrome.
Journal of the American Academy of Child and Adolescent Psychiatry 2010;49(7):665-74.
2010: Monica Marini; Renata Bocciardi; stefania gimelli; Marco Di Duca; Maria T Divizia; Anwar Baban; Harald Gaspar; Isabella Mammi; Livia Garavelli; Roberto Cerone; francesco emma; Maria F Bedeschi; Romano Tenconi; Alberto Sensi; Andrea Salmaggi; Mario Bengala; Francesca Mari; Gianluca Colussi; Krzysztof Szczaluba; Stylianos E Antonarakis; Marco Seri; Margherita Lerone; Roberto Ravazzolo
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(7):431-9.
2010: Frédérique Béna; stefania gimelli; Eugenia Migliavacca; Nathalie Brun-Druc; Karin Buiting; Stylianos E Antonarakis; Andrew J Sharp
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Human molecular genetics 2010;19(10):1967-73.
2010: Stylianos E Antonarakis; Aravinda Chakravarti; Jonathan C Cohen; John Hardy
Mendelian disorders and multifactorial traits: the big divide or one for all?
Nature reviews. Genetics 2010;11(5):380-4.
2010: Marc Friedli; Isabelle Barde; Mélanie Arcangeli; Sonia Verp; Alexandra Quazzola; Jozsef Zakany; Nathalie Lin-Marq; Daniel Robyr; Catia Attanasio; François Spitz; Denis Duboule; Didier Trono; Stylianos E Antonarakis
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus.
PloS one 2010;5(12):e15741.
2010: Rossella De Cegli; Antonio Romito; Simona Iacobacci; Lei Mao; mario Lauria; Anthony O Fedele; Joachim Klose; Christelle Borel; Patrick Descombes; Stylianos E Antonarakis; Diego di Bernardo; Sandro Banfi; Andrea Ballabio; Gilda Cobellis
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.
Genome biology 2010;11(6):R64.
2010: Outi Hovatta; Marisa Jaconi; Virpi Töhönen; Frédérique Béna; stefania gimelli; Alexis Bosman; Frida Holm; Stefan Wyder; Evgeny M Zdobnov; Olivier Irion; Peter W Andrews; Stylianos E Antonarakis; Marco Zucchelli; Juha Kere; Anis Feki
A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes.
PloS one 2010;5(4):e10263.
2009: Patricia Lopes Pereira; Laetitia Magnol; Ignasi Sahun Abizanda; Véronique Brault; Arnaud Duchon; Paola Prandini; Agnès Gruart; Jean-Charles Bizot; Bernadette Chadefaux-Vekemans; Samuel Deutsch; Fabrice Trovero; José María Delgado-García; Stylianos E Antonarakis; Mara Dierssen; Yann Herault
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome.
Human molecular genetics 2009;18(24):4756-69.
2009: Randal X Moldrich; Luce Dauphinot; julien laffaire; Tania Vitalis; Yann Herault; Philip M Beart; Jean Rossier; Denis Vivien; Corinne Gehrig; Stylianos E Antonarakis; Robert Lyle; Marie-Claude Potier
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres.
Journal of neuroscience research 2009;87(14):3143-52.
2009: Antigone S Dimas; Samuel Deutsch; Barbara E Stranger; Stephen B Montgomery; Christelle Borel; Homa Attar-Cohen; Catherine E Ingle; Claude Beazley; Maria Gutierrez Arcelus; Magdalena Sekowska; Marilyne Gagnebin; James Nisbett; Panos Deloukas; Emmanouil T Dermitzakis; Stylianos E Antonarakis
Common regulatory variation impacts gene expression in a cell type-dependent manner.
Science (New York, N.Y.) 2009;325(5945):1246-50.
2009: Periklis Makrythanasis; Philipp Kapranov; Lucia Bartoloni; Alexandre Reymond; Samuel Deutsch; Roderic Guigó; France Denoeud; Jorg Drenkow; Colette Rossier; Francesca Ariani; Valeria Capra; Laurent Excoffier; Alessandra Renieri; Thomas Gingeras; Stylianos E Antonarakis
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
Human mutation 2009;30(9):E866-79.
2009: Sergey I Nikolaev; Samuel Deutsch; Raphael Genolet; Christelle Borel; Leila Parand; Catherine Ucla; Frederic Schütz; Genevieve Duriaux Sail; Yann Dupré; Pascale Jaquier-Gubler; Tanguy Araud; Béatrice Conne; Patrick Descombes; Jean-Dominique Vassalli; Joseph Curran; Stylianos E Antonarakis
Transcriptional and post-transcriptional profile of human chromosome 21.
Genome research 2009;19(8):1471-9.
2009: Karen Bedard; Homa Attar; Jérôme Bonnefont; Vincent Jaquet; Christelle Borel; Olivier Plastre; Marie-José Stasia; Stylianos E Antonarakis; Karl-Heinz Krause
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.
Human mutation 2009;30(7):1123-33.
2009: Barbara D'haene; Catia Attanasio; Diane Beysen; Josée Dostie; Edmond Lemire; Philippe Bouchard; Michael Field; Kristie Jones; Birgit Lorenz; Björn Menten; Karen Buysse; Filip Pattyn; Marc Friedli; Catherine Ucla; Colette Rossier; Carine Wyss; Frank Speleman; Anne De Paepe; Job Dekker; Stylianos E Antonarakis; Elfride De Baere
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.
PLoS genetics 2009;5(6):e1000522.
2009: Robert Lyle; Frédérique Béna; Sarantis Gagos; Corinne Gehrig; Gipsy Lopez; Albert Schinzel; James Lespinasse; Armand Bottani; Sophie Dahoun; Laurence Taine; Martine Doco-Fenzy; Pascale Cornillet-Lefèbvre; Anna Pelet; Stanislas Lyonnet; Annick Toutain; Laurence Colleaux; Jürgen Horst; Ingo Kennerknecht; Nobuaki Wakamatsu; Maria Descartes; Judy C Franklin; Lina Florentin-Arar; Sophia Kitsiou-Tzeli; Emilie Aït Yahya-Graison; Maher Costantine; Pierre-Marie Sinet; Jean M Delabar; Stylianos E Antonarakis
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
European journal of human genetics : EJHG 2009;17(4):454-66.
2009: FX Hubert; Sarah A Kinkel; Pauline E Crewther; Ping Z F Cannon; Kylie E Webster; Maire Link; Raivo Uibo; Moira K O'Bryan; Anthony Meager; Simon P Forehan; Gordon K Smyth; Lauréane Mittaz; Stylianos E Antonarakis; Pärt Peterson; William R Heath; Hamish Scott
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.
Journal of immunology (Baltimore, Md. : 1950) 2009;182(6):3902-18.
2009: Sergey I Nikolaev; Christian Iseli; Andrew J Sharp; Daniel Robyr; Jacques Rougemont; Corinne Gehrig; Laurent Farinelli; Stylianos E Antonarakis
Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.
PloS one 2009;4(8):e6659.
2009: Jennifer Harrow; Alinda Nagy; Alexandre Reymond; Tyler Alioto; Laszlo Patthy; Stylianos E Antonarakis; Roderic Guigó
Identifying protein-coding genes in genomic sequences.
Genome biology 2009;10(1):201.
2009: James Lespinasse; stefania gimelli; Frédérique Béna; Stylianos E Antonarakis; François Ansermet; Ariane Paoloni-Giacobino
Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
European journal of medical genetics 2009;52(1):49-52.
2008: Kayole Kazadi; Corinne Loeuillet; Samuel Deutsch; Angela Ciuffi; Miguel Muñoz; Jacques Beckmann; Darius Moradpour; Stylianos E Antonarakis; Amalio Telenti
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin.
Nucleic acids research 2008;36(21):6918-25.
2008: Sarantis Gagos; Maria Chiourea; Agni Christodoulidou; Eftichia Apostolou; Christina Raftopoulou; Samuel Deustch; Charles Edward Jefford; Irmgard Irminger-Finger; Jerry W Shay; Stylianos E Antonarakis
Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening.
Cancer research 2008;68(19):8146-55.
2008: Claudia Canzonetta; Claire Mulligan; Samuel Deutsch; Sandra Ruf; Aideen O'Doherty; Robert Lyle; Christelle Borel; Nathalie Lin-Marq; Frederic Delom; Jürgen Groet; Felix Schnappauf; Serena De Vita; Sharon Averill; John V Priestley; Joanne E Martin; Janet Shipley; Gareth Denyer; Charles J Epstein; Cristina Fillat; Xavier Estivill; Victor L J Tybulewicz; Elizabeth M C Fisher; Stylianos E Antonarakis; Dean Nizetic
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.
American journal of human genetics 2008;83(3):388-400.
2008: Danielle Martinet; Isabel Filges; Nathalie Besuchet Schmutz; Michael Morris; Anne-Claude Gaide; Sophie Dahoun; Armand Bottani; Marie-Claude Addor; Stylianos E Antonarakis; Jacques Beckmann; Frédérique Béna
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
American journal of medical genetics. Part A 2008;146A(16):2094-102.
2008: Sophie Dahoun; Sarantis Gagos; Maryline Gagnebin; Corinne Gehrig; Carole Bürgi Tabaoada; Fabienne Simon; Chantal Vieux; Philippe Extermann; Robert Lyle; Michael Morris; Stylianos E Antonarakis; Frédérique Béna; Jean-Louis Blouin
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.
American journal of medical genetics. Part A 2008;146A(16):2086-93.
2008: Christelle Borel; Stylianos E Antonarakis
Functional genetic variation of human miRNAs and phenotypic consequences.
Mammalian genome : official journal of the International Mammalian Genome Society 2008;19(7-8):503-9.
2008: Jérôme Bonnefont; Sergey I Nikolaev; Anselme L Perrier; Song Guo; Laetitia Cartier; Silvia Sorce; Térèse Laforge; Laetitia Aubry; Philipp Khaitovich; Marc Peschanski; Stylianos E Antonarakis; Karl-Heinz Krause
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.
American journal of human genetics 2008;83(2):208-18.
2008: Jean-Charles Hoda; Wenli Gu; Marc Friedli; Hilary A Phillips; Sonia Bertrand; Stylianos E Antonarakis; David Goudie; Richard Roberts; Ingrid E Scheffer; Carla Marini; Jayesh Patel; Samuel F Berkovic; John C Mulley; Ortrud K Steinlein; Daniel Bertrand
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.
Molecular pharmacology 2008;74(2):379-91.
2008: Sergey V Voronov; Samuel G Frere; Silvia Giovedi; Elizabeth A Pollina; Christelle Borel; Hong Zhang; Cecilia Schmidt; Ellen C Akeson; Markus R Wenk; Laurent Cimasoni; Ottavio Arancio; Muriel T Davisson; Stylianos E Antonarakis; Katheleen Gardiner; Pietro De Camilli; Gilbert Di Paolo
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(27):9415-20.
2008: Sarah Djebali; Philipp Kapranov; Sylvain Foissac; Julien Lagarde; Alexandre Reymond; Catherine Ucla; Carine Wyss; Jorg Drenkow; Erica Dumais; Ryan R Murray; Chenwei Lin; David Szeto; France Denoeud; Miquel Calvo; Adam Frankish; Jennifer Harrow; Periklis Makrythanasis; Marc Vidal; Kourosh Salehi-Ashtiani; Stylianos E Antonarakis; Thomas Gingeras; Roderic Guigó
Efficient targeted transcript discovery via array-based normalization of RACE libraries.
Nature methods 2008;5(7):629-35.
2008: Siv Fokstuen; Robert Lyle; Analia Munoz; Corinne Gehrig; René Lerch; Andreas Perrot; Karl Josef Osterziel; Christian Geier; Maurice Beghetti; François Mach; Juan Sztajzel; Ulrich Sigwart; Stylianos E Antonarakis; Jean-Louis Blouin
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
Human mutation 2008;29(6):879-85.
2008: Christelle Borel; Maryline Gagnebin; Corinne Gehrig; Evgenia Kriventseva; Evgeny M Zdobnov; Stylianos E Antonarakis
Mapping of small RNAs in the human ENCODE regions.
American journal of human genetics 2008;82(4):971-81.
2008: Marc Friedli; Sergey Nikolaev; Robert Lyle; Mélanie Arcangeli; Denis Duboule; François Spitz; Stylianos E Antonarakis
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3.
Mammalian genome : official journal of the International Mammalian Genome Society 2008;19(4):272-8.
2008: Corinne Loeuillet; Samuel Deutsch; Angela Ciuffi; Daniel Robyr; Patrick Taffé; Miguel Muñoz; Jacques Beckmann; Stylianos E Antonarakis; Amalio Telenti
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.
PLoS biology 2008;6(2):e32.
2008: Georg C Schwabe; Katrin Hoffmann; Niki Tomas Loges; Daniel Birker; Colette Rossier; Margherita M de Santi; Heike Olbrich; Manfred Fliegauf; Mike Failly; Uta Liebers; Mirella Collura; Gerhard Gaedicke; Stefan Mundlos; Ulrich Wahn; Jean-Louis Blouin; Bodo Niggemann; Heymut Omran; Stylianos E Antonarakis; Lucia Bartoloni
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Human mutation 2008;29(2):289-98.
2008: Catia Attanasio; Alexandre Reymond; Richard Humbert; Robert Lyle; Michael S Kuehn; Shane Neph; Peter J Sabo; Jeff Goldy; Molly Weaver; Andrew Haydock; Kristin Lee; Michael Dorschner; Emmanouil T Dermitzakis; Stylianos E Antonarakis; John A Stamatoyannopoulos
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells.
Genome biology 2008;9(12):R168.
2007: Sergey I Nikolaev; Juan I Montoya-Burgos; Konstantin Popadin; Leila Parand; Elliott H Margulies; Stylianos E Antonarakis
Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(51):20443-8.
2007: Corinne Loeuillet; Michael Weale; Samuel Deutsch; Margalida Rotger; Nicole Soranzo; Josiane Wyniger; Guillaume Lettre; Yann Dupré; Delphine Thuillard; Jacques Beckmann; Stylianos E Antonarakis; David B Goldstein; Amalio Telenti
Promoter polymorphisms and allelic imbalance in ABCB1 expression.
Pharmacogenetics and genomics 2007;17(11):951-9.
2007: Robert Lyle; Paola Prandini; Kazutoyo Osoegawa; Boudewijn ten Hallers; Sean Humphray; Baoli Zhu; Eduardo Eyras; Robert Castelo; Christine P Bird; Sarantis Gagos; Carol Scott; Antony Cox; Samuel Deutsch; Catherine Ucla; Marc Cruts; Sophie Dahoun; Xinwei She; Frederique Bena; Sheng-Yue Wang; Christine Van Broeckhoven; Evan E Eichler; Roderic Guigo; Jane Rogers; Pieter J de Jong; Alexandre Reymond; Stylianos E Antonarakis
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.
Genome research 2007;17(11):1690-6.
2007: Jacques Fellay; Kevin V Shianna; Dongliang Ge; Sara Colombo; bruno ledergerber; Mike Weale; Kunlin Zhang; Curtis Gumbs; Antonella Castagna; Andrea Cossarizza; Alessandro Cozzi-Lepri; Andrea De Luca; Philippa Easterbrook; Patrick Francioli; Simon Mallal; Javier Martinez-Picado; Jose M Miro; Niels Obel; Jason P Smith; Josiane Wyniger; Patrick Descombes; Stylianos E Antonarakis; Norman L Letvin; Andrew J McMichael; Barton F Haynes; Amalio Telenti; David B Goldstein
A whole-genome association study of major determinants for host control of HIV-1.
Science (New York, N.Y.) 2007;317(5840):944-7.
2007: Praveen Sethupathy; Christelle Borel; Maryline Gagnebin; Gregory R Grant; Samuel Deutsch; Terry S Elton; Artemis G Hatzigeorgiou; Stylianos E Antonarakis
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.
American journal of human genetics 2007;81(2):405-13.
2007: Paola Prandini; Samuel Deutsch; Robert Lyle; Maryline Gagnebin; Celine Delucinge Vivier; Mauro Delorenzi; Corinne Gehrig; Patrick Descombes; Stephanie L Sherman; Franca Dagna Bricarelli; Chiara Baldo; Antonio Novelli; Bruno Dallapiccola; Stylianos E Antonarakis
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
American journal of human genetics 2007;81(2):252-63.
2007: Jacques Beckmann; Xavier Estivill; Stylianos E Antonarakis
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.
Nature reviews. Genetics 2007;8(8):639-46.
2007: Soraya Beiraghi; Swapan K Nath; Mathew Gaines; Desh D Mandhyan; David Hutchings; Uppala Ratnamala; Ken McElreavey; Lucia Bartoloni; Gregory S Antonarakis; Stylianos E Antonarakis; Uppala Radhakrishna
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.
American journal of human genetics 2007;81(1):180-8.
2007: Stefan Washietl; Jakob S Pedersen; Jan O Korbel; Claudia Stocsits; Andreas R Gruber; Jorg Hackermuller; Jana Hertel; Manja Lindemeyer; Kristin Reiche; Andrea Tanzer; Catherine Ucla; Carine Wyss; Stylianos E Antonarakis; France Denoeud; Julien Lagarde; Jorg Drenkow; Philipp Kapranov; Thomas Gingeras; Roderic Guigó; Michael Snyder; Mark Gerstein; Alexandre Reymond; Ivo L Hofacker; Peter F Stadler
Structured RNAs in the ENCODE selected regions of the human genome.
Genome research 2007;17(6):852-64.
2007: Deyou Zheng; Adam Frankish; Robert Baertsch; Philipp Kapranov; Alexandre Reymond; Siew Woh Choo; Yontao Lu; France Denoeud; Stylianos E Antonarakis; Michael Snyder; Yijun Ruan; Chia-Lin Wei; Thomas Gingeras; Roderic Guigó; Jennifer Harrow; Mark Gerstein
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution.
Genome research 2007;17(6):839-51.
2007: France Denoeud; Philipp Kapranov; Catherine Ucla; Adam Frankish; Robert Castelo; Jorg Drenkow; Julien Lagarde; Tyler Alioto; Caroline Manzano; Jacqueline Chrast; Sujit Dike; Carine Wyss; Charlotte N Henrichsen; Nancy Holroyd; Mark C Dickson; Ruth Taylor; Zahra Hance; Sylvain Foissac; Richard Myers; Jane Rogers; Tim Hubbard; Jennifer Harrow; Roderic Guigó; Thomas Gingeras; Stylianos E Antonarakis; Alexandre Reymond
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.
Genome research 2007;17(6):746-59.
2007: Doron Gothelf; Fumiko Hoeft; Christine Monso-Hinard; Joachim Hallmayer; John Van Dover Stoecker; Stylianos E Antonarakis; Michael Morris; Allan L Reiss
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome.
Human brain mapping 2007;28(6):533-42.
2007: Armand Bottani; Jamel Chelly; Arjan de Brouwer; Bruno Pardo; Mandy Barker; Valeria Capra; Lucia Bartoloni; Stylianos E Antonarakis; Bernard Conrad
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.
American journal of medical genetics. Part A 2007;143A(8):888-90.
2007: Sergey I Nikolaev; Juan I Montoya-Burgos; Elliott H Margulies; Jacques Rougemont; Bruno Nyffeler; Stylianos E Antonarakis
Early history of mammals is elucidated with the ENCODE multiple species sequencing data.
PLoS genetics 2007;3(1):e2.
2007: Bernard Conrad; Stylianos E Antonarakis
Gene duplication: a drive for phenotypic diversity and cause of human disease.
Annual review of genomics and human genetics 2007;8():17-35.
2007: Mohammed Naveed; Swapan K Nath; Mathew Gaines; Mahmoud T Al Ali; Najib Al Khaja; David Hutchings; Jeffrey Golla; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Uppala Ratnamala; Uppala Radhakrishna
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
American journal of human genetics 2007;80(1):105-11.
2007: Alexandre Dayer; Armand Bottani; Isabelle Bouchardy; Joel Fluss; Stylianos E Antonarakis; Christine Haenggeli; Michael Morris
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
Brain & development 2007;29(1):47-50.
2006: Stylianos E Antonarakis; Charles J Epstein
The challenge of Down syndrome.
Trends in molecular medicine 2006;12(10):473-9.
2006: Uppala Radhakrishna; Uppala Ratnamala; Mathew Gaines; Soraya Beiraghi; David Hutchings; Jeffrey Golla; Syed A Husain; Prakash S Gambhir; FRENNY SHETH; Frenny J Sheth; Ghati K Chetan; Mohammed Naveed; Jitendra V Solanki; Uday C Patel; Dilipkumar C Master; Rafiq Memon; Gregory S Antonarakis; Stylianos E Antonarakis; Swapan K Nath
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.
American journal of human genetics 2006;79(3):580-5.
2006: Giuseppe Merla; Cédric Howald; Charlotte N Henrichsen; Robert Lyle; Carine Wyss; Marie-Thérèse Zabot; Stylianos E Antonarakis; Alexandre Reymond
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
American journal of human genetics 2006;79(2):332-41.
2006: Nada Hornef; Heike Olbrich; Judit Horvath; Maimoona A Zariwala; Manfred Fliegauf; Niki Tomas Loges; Johannes H Wildhaber; Peadar G Noone; Marcus Kennedy; Stylianos E Antonarakis; Jean-Louis Blouin; Lucia Bartoloni; Thomas Nüsslein; Peter Ahrens; Matthias Griese; Heiner Kuhl; Ralf Sudbrak; Michael Knowles; Richard Reinhardt; Heymut Omran
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
American journal of respiratory and critical care medicine 2006;174(2):120-6.
2006: David B Everman; Chad T Morgan; Robert Lyle; Mary E Laughridge; Michael Bamshad; Katie Clarkson; Randall Colby; Fiorella Gurrieri; A Micheil Innes; Jacquelyn Roberson; C T R M Schrander-Stumpel; Hans van Bokhoven; Stylianos E Antonarakis; Charles E Schwartz
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
American journal of medical genetics. Part A 2006;140(13):1375-83.
2006: Robert Lyle; Uppala Radhakrishna; Jean-Louis Blouin; Sarantis Gagos; David B Everman; Corinne Gehrig; Celia Delozier-Blanchet; Jitendra V Solanki; Uday C Patel; Swapan K Nath; Fiorella Gurrieri; Giovanni Neri; Charles E Schwartz; Stylianos E Antonarakis
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.
American journal of medical genetics. Part A 2006;140(13):1384-95.
2006: Mohammed Naveed; Mahmoud T Al Ali; Sabita K Murthy; Sarah Al-Hajali; Najib Al Khaja; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Swapan K Nath; Uppala Radhakrishna
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.
American journal of medical genetics. Part A 2006;140(13):1440-6.
2006: Stylianos E Antonarakis; Jacques Beckmann
Mendelian disorders deserve more attention.
Nature reviews. Genetics 2006;7(4):277-82.
2006: Bronwyn Glaser; Martin Debbane; Christine Monso-Hinard; Michael Morris; Sophie Dahoun; Stylianos E Antonarakis; Stephan Eliez
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome.
The American journal of psychiatry 2006;163(3):537-9.
2006: Cédric Howald; Giuseppe Merla; M C Digilio; Styliani Amenta; Robert Lyle; Samuel Deutsch; Urmila Choudhury; Armand Bottani; Stylianos E Antonarakis; Helen Fryssira; B Dallapiccola; Alexandre Reymond
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
Journal of medical genetics 2006;43(3):266-73.
2006: Jared A Drake; Christine Bird; James Nemesh; Daryl J Thomas; Christopher Newton-Cheh; Alexandre Reymond; Laurent Excoffier; Homa Attar; Stylianos E Antonarakis; Emmanouil T Dermitzakis; Joel N Hirschhorn
Conserved noncoding sequences are selectively constrained and not mutation cold spots.
Nature genetics 2006;38(2):223-7.
2006: Jennifer Harrow; France Denoeud; Adam Frankish; Alexandre Reymond; Chao-Kung Chen; Jacqueline Chrast; Julien Lagarde; James G R Gilbert; Roy Storey; David Swarbreck; Colette Rossier; Catherine Ucla; Tim Hubbard; Stylianos E Antonarakis; Roderic Guigo
GENCODE: producing a reference annotation for ENCODE.
Genome biology 2006;7 Suppl 1():S4.1-9.
2006: Roderic Guigó; Paul Flicek; Josep F Abril; Alexandre Reymond; Julien Lagarde; France Denoeud; Stylianos E Antonarakis; Michael Ashburner; Vladimir Bajic; Ewan Birney; Robert Castelo; Eduardo Eyras; Catherine Ucla; Thomas Gingeras; Jennifer Harrow; Tim Hubbard; Suzanna E Lewis; Martin G Reese
EGASP: the human ENCODE Genome Annotation Assessment Project.
Genome biology 2006;7 Suppl 1():S2.1-31.
2006: Genís Parra; Alexandre Reymond; Noura Dabbouseh; Emmanouil T Dermitzakis; Robert Castelo; Timothy M Thomson; Stylianos E Antonarakis; Roderic Guigó
Tandem chimerism as a means to increase protein complexity in the human genome.
Genome research 2006;16(1):37-44.
2005: Barbara E Stranger; Matthew Forrest; andrew clark; Mark J Minichiello; Samuel Deutsch; Robert Lyle; Sarah Hunt; Brenda Kahl; Stylianos E Antonarakis; Simon Tavaré; Panos Deloukas; Emmanouil T Dermitzakis
Genome-wide associations of gene expression variation in humans.
PLoS genetics 2005;1(6):e78.
2005: Ruth Landau; Michel A Morales; Stylianos E Antonarakis; Jean-Louis Blouin; Richard M Smiley
Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor.
Clinical pharmacology and therapeutics 2005;78(6):656-63.
2005: Samuel Deutsch; Robert Lyle; Emmanouil T Dermitzakis; Homa Attar; Lakshman Subrahmanyan; Corinne Gehrig; Leila Parand; Maryline Gagnebin; Jacques Rougemont; Victor Jongeneel; Stylianos E Antonarakis
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.
Human molecular genetics 2005;14(23):3741-9.
2005: Serge L Ferrari; Samuel Deutsch; Claude Baudoin; Martine Cohen-Solal; Agnès Ostertag; Stylianos E Antonarakis; René Rizzoli; Marie-Christine de Vernejoul
LRP5 gene polymorphisms and idiopathic osteoporosis in men.
Bone 2005;37(6):770-5.
2005: Doron Gothelf; Stephan Eliez; Tracy Thompson; Christine Monso-Hinard; Lauren Penniman; Carl Feinstein; Hower Kwon; Shuting Jin; Booil Jo; Stylianos E Antonarakis; Michael Morris; Allan L Reiss
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome.
Nature neuroscience 2005;8(11):1500-2.
2005: Luisa Bonafé; Emmanouil T Dermitzakis; Sheila Unger; Cheryl R Greenberg; Belinda A Campos-Xavier; Andreas Zankl; Catherine Ucla; Stylianos E Antonarakis; andrea superti-furga; Alexandre Reymond
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
PLoS genetics 2005;1(4):e47.
2005: Olivier Leupin; Catia Attanasio; Samuel Marguerat; Myriam Tapernoux; Stylianos E Antonarakis; Bernard Conrad
Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter.
EMBO reports 2005;6(10):956-60.
2005: Marie Wattenhofer; Nilüfer Sahin-Calapoglu; Ditte Andreasen; Ersan Kalay; Refik Caylan; Bastien Braillard; Nicole Fowler Jaeger; Alexandre Reymond; Bernard C Rossier; Ahmet Karaguzel; Stylianos E Antonarakis
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Human genetics 2005;117(6):528-35.
2005: Miguel Valiente; Amparo Andrés-Pons; Beatriz Gomar; Josema Torres; Anabel Gil; Caroline Tapparel; Stylianos E Antonarakis; Rafael Pulido
Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases.
The Journal of biological chemistry 2005;280(32):28936-43.
2005: Hamid Mehenni; Nathalie Lin-Marq; Karine Buchet-Poyau; Alexandre Reymond; Martine A Collart; Didier Picard; Stylianos E Antonarakis
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.
Human molecular genetics 2005;14(15):2209-19.
2005: Marie Wattenhofer; Alexandre Reymond; Véronique Falciola; Anne Charollais; Dorothée Caille; Christelle Borel; Robert Lyle; Xavier Estivill; Michael B Petersen; Paolo Meda; Stylianos E Antonarakis
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Human mutation 2005;25(6):543-9.
2005: Siv Fokstuen; Jean-Louis Blouin; Robert Lyle; René Lerch; M Beghetti; François Mach; Juan Sztajzel; Stylianos E Antonarakis; U Sigwart
[The contribution of molecular genetics to clinical cardiology: the example of hypertrophic cardiomyopathy].
Revue médicale suisse 2005;1(21):1448, 1450, 1452-3.
2005: Serge L Ferrari; Samuel Deutsch; Stylianos E Antonarakis
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.
Current opinion in lipidology 2005;16(2):207-14.
2005: Nathalie Lin-Marq; Christelle Borel; Stylianos E Antonarakis
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling.
Molecular genetics and genomics : MGG 2005;273(2):184-96.
2005: Kylie E Webster; Moira K O'Bryan; Stephen Fletcher; Pauline E Crewther; Ulla Aapola; Jeff Craig; Dion K Harrison; Hnin Aung; Nawapen Phutikanit; Robert Lyle; Sarah J Meachem; Stylianos E Antonarakis; David M de Kretser; Mark P Hedger; Pärt Peterson; Bernard J Carroll; Hamish Scott
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(11):4068-73.
2005: Emmanouil T Dermitzakis; Alexandre Reymond; Stylianos E Antonarakis
Conserved non-genic sequences - an unexpected feature of mammalian genomes.
Nature reviews. Genetics 2005;6(2):151-7.
2005: Luce Dauphinot; R Lyle; Isabelle Rivals; M Tran Dang; Randal X Moldrich; Geoffroy Golfier; L Ettwiller; Kiyoko Toyama; Jean Rossier; Léon Personnaz; Stylianos E Antonarakis; C J Epstein; Pierre-Marie Sinet; Marie-Claude Potier
The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.
Human molecular genetics 2005;14(3):373-84.
2005: Eduardo Eyras; Alexandre Reymond; Robert Castelo; Jacqueline M Bye; Francisco Camara; Paul Flicek; Elizabeth J Huckle; Genís Parra; David D Shteynberg; Carine Wyss; Jane Rogers; Stylianos E Antonarakis; Ewan Birney; Roderic Guigo; Michael R Brent
Gene finding in the chicken genome.
BMC bioinformatics 2005;6():131.
2005: Robert Castelo; Alexandre Reymond; Carine Wyss; Francisco Câmara; Genís Parra; Stylianos E Antonarakis; Roderic Guigó; Eduardo Eyras
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes.
Nucleic acids research 2005;33(6):1935-9.
2005: Katheleen Gardiner; Muriel T Davisson; M Pritchard; David Patterson; Y Groner; Linda S Crnic; Stylianos E Antonarakis; William C. Mobley
Report on the 'Expert Workshop on the Biology of Chromosome 21: towards gene-phenotype correlations in Down syndrome', held June 11-14, 2004, Washington D.C.
Cytogenetic and genome research 2005;108(4):269-77.
2004: Samuel Deutsch; Urmila Choudhury; Giuseppe Merla; Cédric Howald; A Sylvan; Stylianos E Antonarakis
Detection of aneuploidies by paralogous sequence quantification.
Journal of medical genetics 2004;41(12):908-15.
2004: Stylianos E Antonarakis; Robert Lyle; Emmanouil T Dermitzakis; Alexandre Reymond; Samuel Deutsch
Chromosome 21 and down syndrome: from genomics to pathophysiology.
Nature reviews. Genetics 2004;5(10):725-38.
2004: Yves Dauvilliers; Jean-Louis Blouin; Elisabeth Neidhart; Bertrand Carlander; Jean-François Eliaou; Stylianos E Antonarakis; Michel Billiard; Mehdi Tafti
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.
Annals of neurology 2004;56(3):382-8.
2004: Olivier Menzel; Tibor Vellai; Krisztina Takacs-Vellai; Alexandre Reymond; Fritz Mueller; Stylianos E Antonarakis; Michel Guipponi
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.
Genomics 2004;84(2):320-30.
2004: Giuseppe Merla; Cédric Howald; Stylianos E Antonarakis; Alexandre Reymond
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.
Human molecular genetics 2004;13(14):1505-14.
2004: Robert Lyle; Corinne Gehrig; Charlotte Neergaard-Henrichsen; Samuel Deutsch; Stylianos E Antonarakis
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome.
Genome research 2004;14(7):1268-74.
2004: Charlotte Neergaard Henrichsen; Richard Delorme; Maria Boucherie; Dominique Marelli; Patrick Baud; Frank Bellivier; Philippe Courtet; Nadia Chabane; Chantal Henry; Marion Leboyer; Alain Malafosse; Stylianos E Antonarakis; Sophie Dahoun
No association between DUP25 and anxiety disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;128B(1):80-3.
2004: Emmanouil T Dermitzakis; Ewen F Kirkness; Scott Schwarz; Ewan Birney; Alexandre Reymond; Stylianos E Antonarakis
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment.
Genome research 2004;14(5):852-9.
2004: Serge L Ferrari; Samuel Deutsch; Urmila Choudhury; Thierry Chevalley; Jean-Philippe Bonjour; Emmanouil T Dermitzakis; René Rizzoli; Stylianos E Antonarakis
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.
American journal of human genetics 2004;74(5):866-75.
2004: Ruth Landau; Enrico Cohen; Richard M Smiley; Stylianos E Antonarakis; Jean-Louis Blouin
Genetic variability of mu-opioid receptor in an obstetric population.
Anesthesiology 2004;100(4):1030-3.
2004: Lucia Bartoloni; Stylianos E Antonarakis
The human sugar-phosphate/phosphate exchanger family SLC37.
Pflügers Archiv : European journal of physiology 2004;447(5):780-3.
2004: Olivier Menzel; Reidunn C J Bekkeheien; Alexandre Reymond; Naomi Fukai; Eileen Boye; Gyorgy Kosztolanyi; Salim Aftimos; Samuel Deutsch; Hamish Scott; Bjorn R Olsen; Stylianos E Antonarakis; Michel Guipponi
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
Human mutation 2004;23(1):77-84.
2003: Caroline Tapparel; Alexandre Reymond; Christophe Girardet; Louis Guillou; Robert Lyle; Christine Lamon; Pierre Hutter; Stylianos E Antonarakis
The TPTE gene family: cellular expression, subcellular localization and alternative splicing.
Gene 2003;323():189-99.
2003: Marc Friedli; Michel Guipponi; Sonia Bertrand; Daniel Bertrand; Marguerite Neerman-Arbez; Hamish Scott; Stylianos E Antonarakis; Alexandre Reymond
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.
Gene 2003;320():31-40.
2003: Emmanouil T Dermitzakis; Alexandre Reymond; Nathalie Scamuffa; Catherine Ucla; Ewen F Kirkness; Colette Rossier; Stylianos E Antonarakis
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).
Science (New York, N.Y.) 2003;302(5647):1033-5.
2003: Andreas Weinhaeusel; Michael A Morris; Stylianos E Antonarakis; Oskar A Haas
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.
Human mutation 2003;22(5):404-8.
2003: Xavier de Mollerat du Jeu; Fiorella Gurrieri; Chad T Morgan; Eugenio Sangiorgi; David B Everman; Paola Gaspari; Jeanne Amiel; Michael Bamshad; Robert Lyle; Jean-Louis Blouin; Judith E Allanson; Bernard Le Marec; Melba Wilson; Nancy E Braverman; Uppala Radhakrishna; Celia Delozier-Blanchet; Albert G Abbott; Vincent Elghouzzi; Stylianos E Antonarakis; Roger E Stevenson; Arnold Munnich; Giovanni Neri; Charles E Schwartz
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
Human molecular genetics 2003;12(16):1959-71.
2003: Johan T den Dunnen; Stylianos E Antonarakis
Mutation nomenclature.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2003;Chapter 7():Unit 7.13.
2003: Samuel Deutsch; Alexandra Rideau; Marie-Luce Bochaton-Piallat; Giuseppe Merla; Antoine Geinoz; Giulio Gabbiani; Torsten Schwede; Thomas Matthes; Stylianos E Antonarakis; Photis Beris
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Blood 2003;102(2):529-34.
2003: H Chen; N Wang; Yuqing Huo; Pamela Sklar; Dean F MacKinnon; James B Potash; Francis McMajon; Stylianos E Antonarakis; J. Raymond DePaulo; Christopher A Ross; Melvin G McInnis
Trapping and sequence analysis of 1138 putative exons from human chromosome 18.
Molecular psychiatry 2003;8(6):619-23.
2003: Gabriel Gold; Jean-Louis Blouin; Francois Herrmann; Agnès Michon; Reinhild Mulligan; Geneviève Duriaux Saïl; Constantin Bouras; Panteleimon Giannakopoulos; Stylianos E Antonarakis
Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003;119B(1):44-7.
2003: Wendy M Pruitt; Antoine E Karnoub; A Corinne Rakauskas; Michel Guipponi; Stylianos E Antonarakis; Alexei Kurakin; Brian Kay; John Sondek; David Siderovski; Channing J Der
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling.
Biochimica et biophysica acta 2003;1640(1):61-8.
2003: Siv Fokstuen; Stylianos E Antonarakis; Jean-Louis Blouin
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.
American journal of medical genetics. Part A 2003;117A(2):143-6.
2003: Roderic Guigo; Emmanouil T Dermitzakis; Pankaj Agarwal; Chris P Ponting; Genís Parra; Alexandre Reymond; Josep F Abril; Evan Keibler; Robert Lyle; Catherine Ucla; Stylianos E Antonarakis; Michael R Brent
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(3):1140-5.
2003: Maria D Lalioti; Stylianos E Antonarakis; Hamish Scott
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
Cytogenetic and genome research 2003;100(1-4):213-23.
2003: S Driess; K Freese; Dorothea Bornholdt; A Kobelt; W Kress; Geert R Mortier; Uppala Radhakrishna; Stylianos E Antonarakis; A Rauch; Mohnish Suri; Joke B G M Verheij; H Woerle; Karl-Heinz Grzeschik; M Kalff-Suske
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.
Human genetics 2003;112(1):103.
2002: Alexandre Reymond; Valeria Marigo; Murat B Yaylaoglu; Antonio Leoni; Catherine Ucla; Nathalie Scamuffa; Cristina Caccioppoli; Emmanouil T Dermitzakis; Robert Lyle; Sandro Banfi; Gregor Eichele; Stylianos E Antonarakis; Andrea Ballabio
Human chromosome 21 gene expression atlas in the mouse.
Nature 2002;420(6915):582-6.
2002: Emmanouil T Dermitzakis; Alexandre Reymond; Robert Lyle; Nathalie Scamuffa; Catherine Ucla; Samuel Deutsch; Brian J Stevenson; Volker Flegel; Philipp Bucher; Victor Jongeneel; Stylianos E Antonarakis
Numerous potentially functional but non-genic conserved sequences on human chromosome 21.
Nature 2002;420(6915):578-82.
2002: Michel Guipponi; Grégoire Vuagniaux; Marie Wattenhofer; Kazunori Shibuya; Maria Vazquez; Loretta Dougherty; Nathalie Scamuffa; Elizabeth Guida; Michiyo Okui; Colette Rossier; Manuela Hancock; Karine Buchet; Alexandre Reymond; Edith Hummler; Phillip L Marzella; Jun Kudoh; Nobuyoshi Shimizu; Hamish Scott; Stylianos E Antonarakis; Bernard C Rossier
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Human molecular genetics 2002;11(23):2829-36.
2002: Ariane Paoloni-Giacobino; Claudine Rey-Berthod; Alexia Couturier; Stylianos E Antonarakis; Pierre Hutter
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors.
Human genetics 2002;111(3):284-9.
2002: Lucia Bartoloni; Jean-Louis Blouin; Yanzhen Pan; Corinne Gehrig; Amit K Maiti; Nathalie Scamuffa; Colette Rossier; Mark Jorissen; Miguel Armengot; Maggie Meeks; Hannah M Mitchison; Eddie M K Chung; Celia Delozier-Blanchet; William J Craigen; Stylianos E Antonarakis
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(16):10282-6.
2002: Bronwyn Glaser; Donna L Mumme; Christine Blasey; Michael Morris; Sophie Dahoun; Stylianos E Antonarakis; Allan L Reiss; Stephan Eliez
Language skills in children with velocardiofacial syndrome (deletion 22q11.2).
The Journal of pediatrics 2002;140(6):753-8.
2002: Alexandre Reymond; Anamaria A Camargo; Samuel Deutsch; Brian J Stevenson; Raphael B Parmigiani; Catherine Ucla; Fabiana Bettoni; Colette Rossier; Robert Lyle; Michel Guipponi; Sandro de Souza; Christian Iseli; Victor Jongeneel; Philipp Bucher; Andrew J G Simpson; Stylianos E Antonarakis
Nineteen additional unpredicted transcripts from human chromosome 21.
Genomics 2002;79(6):824-32.
2002: François Spitz; Thomas Montavon; Christine Monso-Hinard; Michael Morris; Maria-Luisa Ventruto; Stylianos E Antonarakis; Valerio Ventruto; Denis Duboule
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.
Genomics 2002;79(4):493-8.
2002: Joäelle Michaud; Feng Wu; Motomi Osato; Gregory M Cottles; Masatoshi Yanagida; Norio Asou; Shigesada Katsuya; Yoshiaki Ito; Kathleen F Benson; Wendy H Raskind; Colette Rossier; Stylianos E Antonarakis; Sara J Israels; Archibald McNicol; Harvey Weiss; Marshall Horwitz; Hamish Scott
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Blood 2002;99(4):1364-72.
2002: Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Journal of molecular medicine (Berlin, Germany) 2002;80(2):124-31.
2002: Karine Buchet-Poyau; Hamid Mehenni; Uppala Radhakrishna; Stylianos E Antonarakis
Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2.
Cytogenetic and genome research 2002;97(3-4):171-8.
2002: Stylianos E Antonarakis; Robert Lyle; Samuel Deutsch; Alexandre Reymond
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.
The International journal of developmental biology 2002;46(1):89-96.
2001: Michel Guipponi; Caroline Tapparel; O Jousson; Nathalie Scamuffa; Christophe Mas; Colette Rossier; Pierre Hutter; Paolo Meda; Robert Lyle; Alexandre Reymond; Stylianos E Antonarakis
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family.
Human genetics 2001;109(6):569-75.
2001: Alexandre Reymond; Marc Friedli; Charlotte N Henrichsen; F Chapot; Samuel Deutsch; Catherine Ucla; Colette Rossier; Robert Lyle; Michel Guipponi; Stylianos E Antonarakis
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.
Genomics 2001;78(1-2):46-54.
2001: Stylianos E Antonarakis; Robert Lyle; R Chrast; Hamish Scott
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome.
Brain research. Brain research reviews 2001;36(2-3):265-74.
2001: M Heino; Pärt Peterson; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott; Kai Krohn
APECED mutations in the autoimmune regulator (AIRE) gene.
Human mutation 2001;18(3):205-11.
2001: Saber Masmoudi; Stylianos E Antonarakis; Torsten Schwede; Ali Ghorbel; M Gratri; M P Pappasavas; Mohamed Drira; A Elgaied-Boulila; Marie Wattenhofer; Colette Rossier; Hamish Scott; Hammadi Ayadi; Michel Guipponi
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Human mutation 2001;18(2):101-8.
2001: Ariane Paoloni-Giacobino; Colette Rossier; MP Papasavvas; Stylianos E Antonarakis
Frequency of replication/transcription errors in (A)/(T) runs of human genes.
Human genetics 2001;109(1):40-7.
2001: Tamar Ben-Yosef; Marie Wattenhofer; S Riazuddin; Z M Ahmed; Hamish Scott; Jun Kudoh; Kazunori Shibuya; Stylianos E Antonarakis; Batsheva Bonne-Tamir; Uppala Radhakrishna; Sadaf Naz; Zubair M Ahmed; Sheikh Amer Riazuddin; Arti Pandya; Walter E Nance; Edward R Wilcox; Thomas B Friedman; Robert J Morell
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Journal of medical genetics 2001;38(6):396-400.
2001: Stylianos E Antonarakis
Chromosome 21: from sequence to applications.
Current opinion in genetics & development 2001;11(3):241-6.
2001: Lucia Bartoloni; Jean-Louis Blouin; Amit K Maiti; AJ Sainsbury; Colette Rossier; Corinne Gehrig; Jin-Xiong She; M P Marron; E S Lander; Maggie Meeks; E Chung; Miguel Armengot; Mark Jorissen; Hamish Scott; Celia Delozier-Blanchet; R Mark Gardiner; Stylianos E Antonarakis
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
Genomics 2001;72(1):21-33.
2001: Marie Wattenhofer; Kazunori Shibuya; Jun Kudoh; Robert Lyle; Joäelle Michaud; Colette Rossier; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; A Berry; Batsheva Bonne-Tamir; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
Human genetics 2001;108(2):140-7.
2001: Samuel Deutsch; Christian Iseli; Philipp Bucher; Stylianos E Antonarakis; Hamish Scott
A cSNP map and database for human chromosome 21.
Genome research 2001;11(2):300-7.
2001: claudio soravia; Celia Delozier-Blanchet; Jean-Louis Blouin; Marie-Anne Bründler; egger jf; Pierre-Edouard Queneau; Arnaud D Roth; M C Marti; Stylianos E Antonarakis; Philippe Morel; Pierre Hutter
[Multidisciplinary management of hereditary colorectal cancer].
Swiss surgery = Schweizer Chirurgie = Chirurgie suisse = Chirurgia svizzera 2001;7(3):99-104.
2001: Ulla Aapola; R Lyle; Kai Krohn; Stylianos E Antonarakis; Pärt Peterson
Isolation and initial characterization of the mouse Dnmt3l gene.
Cytogenetics and cell genetics 2001;92(1-2):122-6.
2001: Uppala Radhakrishna; Selahattin Senol; H Herken; Kivilcim Gucuyener; Corinne Gehrig; Jean-Louis Blouin; N A Akarsu; Stylianos E Antonarakis
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree.
European journal of human genetics : EJHG 2001;9(1):39-44.
2001: Stephan Eliez; Stylianos E Antonarakis; Michael Morris; Sophie Dahoun; Allan L Reiss
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study.
Archives of general psychiatry 2001;58(1):64-8.
2001: Hamish Scott; Jun Kudoh; Marie Wattenhofer; Kazunori Shibuya; A Berry; R Chrast; Michel Guipponi; J Wang; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; F Younus; S Qasim Mehdi; Uppala Radhakrishna; MP Papasavvas; Corinne Gehrig; Colette Rossier; Michael Korostishevsky; A Gal; Nobuyoshi Shimizu; Batsheva Bonne-Tamir; Stylianos E Antonarakis
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Nature genetics 2001;27(1):59-63.
2000: R Chrast; Hamish Scott; MP Papasavvas; Colette Rossier; E S Antonarakis; C Barras; Muriel T Davisson; C Schmidt; Xavier Estivill; Mara Dierssen; M Pritchard; Stylianos E Antonarakis
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals.
Genome research 2000;10(12):2006-21.
2000: Lucia Bartoloni; Marie Wattenhofer; Jun Kudoh; A Berry; Kazunori Shibuya; K Kawasaki; J Wang; Shuichi Asakawa; Ilana Talior; Batsheva Bonne-Tamir; Colette Rossier; Joäelle Michaud; Edward RB McCabe; Shinsei Minoshima; Nobuyoshi Shimizu; Hamish Scott; Stylianos E Antonarakis
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
Genomics 2000;70(2):190-200.
2000: Ann E Pulver; Jennifer Gladys Mulle; Gerald Nestadt; Karen L Swartz; Jean-Louis Blouin; BA Dombroski; Kung-Yee Liang; D E Housman; Haig Kazazian ; Stylianos E Antonarakis; Virginia K Lasseter; Paula S Wolyniec; Mary H Thornquist; John A McGrath
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes.
Molecular psychiatry 2000;5(6):650-3.
2000: Joäelle Michaud; Jun Kudoh; A Berry; Batsheva Bonne-Tamir; Maria D Lalioti; Colette Rossier; Kazunori Shibuya; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.
Genomics 2000;68(1):71-9.
2000: Michel Guipponi; K Brunschwig; Z Chamoun; Hamish Scott; K Shibuya; Jun Kudoh; A L Delezoide; S El Samadi; Zoubida Chettouh; Colette Rossier; Nobuyoshi Shimizu; F Mueller; Jean-Maurice Delabar; Stylianos E Antonarakis
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning.
Genomics 2000;68(1):30-40.
2000: A Berry; Hamish Scott; Jun Kudoh; Ilana Talior; Michael Korostishevsky; Marie Wattenhofer; Michel Guipponi; C Barras; Colette Rossier; Kazunori Shibuya; J Wang; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; Nobuyoshi Shimizu; Stylianos E Antonarakis; B Bonné-Tamir
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
Genomics 2000;68(1):22-9.
2000: Michel Guipponi; Marie-Laure Yaspo; L Riesselman; H Chen; Albertina De Sario; Gérard Roizès; Stylianos E Antonarakis
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21.
Human genetics 2000;107(2):127-31.
2000: R Chrast; Hamish Scott; Rime MADANI; L Huber; David P Wolfer; M Prinz; A Aguzzi; Hans-Peter Lipp; Stylianos E Antonarakis
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.
Human molecular genetics 2000;9(12):1853-64.
2000: M Heino; Pärt Peterson; Niko Sillanpää; S Guérin; L Wu; G Anderson; Hamish Scott; Stylianos E Antonarakis; Jun Kudoh; Nobuyoshi Shimizu; E J Jenkinson; Philippe Naquet; KJ Krohn
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse.
European journal of immunology 2000;30(7):1884-93.
2000: Jukka Pitkänen; Vassilis Doucas; Thomas Sternsdorf; T Nakajima; S Aratani; Kirsten Jensen; Hans Will; Perttu Vähämurto; Juha Ollila; Mauno Vihinen; Hamish Scott; Stylianos E Antonarakis; Jun Kudoh; Nobuyoshi Shimizu; Kai Krohn; Pärt Peterson
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein.
The Journal of biological chemistry 2000;275(22):16802-9.
2000: Stephan Eliez; F Palacio-Espasa; A Spira; M Lacroix; C Pont; F Luthi; C Robert-Tissot; Carl Feinstein; D F Schorderet; Stylianos E Antonarakis; B Cramer
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes.
European child & adolescent psychiatry 2000;9(2):109-14.
2000: Ulla Aapola; K Kawasaki; Hamish Scott; Juha Ollila; Mauno Vihinen; M Heino; A Shintani; K Kawasaki; Shinsei Minoshima; Kai Krohn; Stylianos E Antonarakis; Nobuyoshi Shimizu; Jun Kudoh; Pärt Peterson
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family.
Genomics 2000;65(3):293-8.
2000: Jean-Louis Blouin; Maggie Meeks; Uppala Radhakrishna; AJ Sainsbury; C Gehring; G D Saïl; Lucia Bartoloni; V Dombi; AM O'Rawe; A Walne; E Chung; B A Afzelius; Miguel Armengot; Mark Jorissen; D V Schidlow; L van Maldergem; H Walt; R Mark Gardiner; D Probst; Pierre-André Guerne; Celia Delozier-Blanchet; Stylianos E Antonarakis
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.
European journal of human genetics : EJHG 2000;8(2):109-18.
2000: Amit K Maiti; Lucia Bartoloni; Hannah M Mitchison; Maggie Meeks; E Chung; S Spiden; Corinne Gehrig; Colette Rossier; Celia Delozier-Blanchet; J Blouin; R Mark Gardiner; Stylianos E Antonarakis
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).
Cytogenetics and cell genetics 2000;90(1-2):119-22.
2000: Hamish Scott; Stylianos E Antonarakis; L Mittaz; Maria D Lalioti; F Younus; Aisha Mohyuddin; S Qasim Mehdi; A Gal
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.
Advances in oto-rhino-laryngology 2000;56():158-63.
1999: Erich Roessler; L Mittaz; Y Du; Hamish Scott; J Chang; Colette Rossier; Michel Guipponi; S P Matsuda; Maximilian Muenke; Stylianos E Antonarakis
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).
Human genetics 1999;105(5):489-95.
1999: H Chen; Colette Rossier; Michael Morris; Hamish Scott; A Gos; Amos Bairoch; Stylianos E Antonarakis
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y.
Human genetics 1999;105(5):399-409.
1999: S Y Wang; Marc Cruts; Jurgen Del-Favero; Y Zhang; F Tissir; Marie-Claude Potier; D Patterson; Dean Nizetic; A Bosch; Haiming Chen; L Bennett; X Estivill; AM Kessling; Stylianos E Antonarakis; Christine Van Broeckhoven
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes.
Genome research 1999;9(11):1059-73.
1999: Uppala Radhakrishna; Dorothea Bornholdt; Hamish Scott; Uday C Patel; Colette Rossier; Hartmut Engel; Armand Bottani; D Chandal; Jean-Louis Blouin; Jitendra V Solanki; Karl-Heinz Grzeschik; Stylianos E Antonarakis
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
American journal of human genetics 1999;65(3):645-55.
1999: Maria D Lalioti; Hamish Scott; Stylianos E Antonarakis
Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.
Human molecular genetics 1999;8(9):1791-8.
1999: Stylianos E Antonarakis; Jean-Louis Blouin; Virginia K Lasseter; Corinne Gehrig; Uppala Radhakrishna; Gerald Nestadt; DE Housman; Haig Kazazian ; Katalin Kalman; George A Gutman; Emmanuelle Fantino; K George Chandy; J Jay Gargus; Ann E Pulver
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21.
American journal of medical genetics 1999;88(4):348-51.
1999: M Heino; Pärt Peterson; Jun Kudoh; Kentaro Nagamine; Anssi Lagerstedt; Vladimir Ovod; Annamari Ranki; Immo Rantala; M Nieminen; J Tuukkanen; Hamish Scott; Stylianos E Antonarakis; Nobuyoshi Shimizu; Kai Krohn
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.
Biochemical and biophysical research communications 1999;257(3):821-5.
1999: Logos Curtis; Jean-Louis Blouin; Uppala Radhakrishna; Corinne Gehrig; Virginia K Lasseter; Paula S Wolyniec; Gerald Nestadt; BA Dombroski; Haig Kazazian ; Ann E Pulver; DE Housman; D Bertrand; Stylianos E Antonarakis
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.
American journal of medical genetics 1999;88(2):109-12.
1999: R Chrast; Hamish Scott; Stylianos E Antonarakis
Linearization and purification of BAC DNA for the development of transgenic mice.
Transgenic research 1999;8(2):147-50.
1999: Marguerite Neerman-Arbez; K M Johnson; Michael Morris; J H McVey; Flora Peyvandi; William C Nichols; David Ginsburg; Colette Rossier; Stylianos E Antonarakis; Edward G D Tuddenham
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.
Blood 1999;93(7):2253-60.
1999: L Mittaz; Colette Rossier; M Heino; Pärt Peterson; KJ Krohn; A Gos; Michael Morris; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott
Isolation and characterization of the mouse Aire gene.
Biochemical and biophysical research communications 1999;255(2):483-90.
1999: Lucia Bartoloni; J Blouin; AJ Sainsbury; A Gos; Michael Morris; N A Affara; Celia Delozier-Blanchet; Stylianos E Antonarakis
Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping.
Cytogenetics and cell genetics 1999;84(3-4):188-9.
1999: M Heino; Hamish Scott; Q Chen; Pärt Peterson; U Mäebpää; MP Papasavvas; L Mittaz; C Barras; Colette Rossier; George Chrousos; Constantine Straturis; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; N Maclaren; Stylianos E Antonarakis; Kai Krohn
Mutation analyses of North American APS-1 patients.
Human mutation 1999;13(1):69-74.
1998: Hamid Mehenni; Corinne Gehrig; Jun-ichi Nezu; A Oku; Miyuki Shimane; Colette Rossier; N Guex; Jean-Louis Blouin; Hamish Scott; Stylianos E Antonarakis
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.
American journal of human genetics 1998;63(6):1641-50.
1998: Michel Guipponi; Hamish Scott; H Chen; A Schebesta; Colette Rossier; Stylianos E Antonarakis
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.
Genomics 1998;53(3):369-76.
1998: Maria Cristina Rosatelli; meloni alessandra; A Meloni; M Devoto; Antonio Cao; Hamish Scott; Pärt Peterson; M Heino; KJ Krohn; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Human genetics 1998;103(4):428-34.
1998: Michel Guipponi; Hamish Scott; Jun Kudoh; K Kawasaki; Kazunori Shibuya; A Shintani; Shuichi Asakawa; H Chen; Maria D Lalioti; Colette Rossier; Shinsei Minoshima; Nobuyoshi Shimizu; Stylianos E Antonarakis
Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence.
Human genetics 1998;103(4):386-92.
1998: Pärt Peterson; Kentaro Nagamine; H Scott; M Heino; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis; KJ Krohn
APECED: a monogenic autoimmune disease providing new clues to self-tolerance.
Immunology today 1998;19(9):384-6.
1998: Jean-Louis Blouin; BA Dombroski; Swapan K Nath; Virginia K Lasseter; Paula S Wolyniec; Gerald Nestadt; Mary H Thornquist; G Ullrich; J McGrath; L Kasch; M Lamacz; M G Thomas; Corinne Gehrig; Uppala Radhakrishna; S E Snyder; K G Balk; Karin Neufeld; Karen L Swartz; N DeMarchi; G N Papadimitriou; Dimitris G Dikeos; C N Stefanis; Aravinda Chakravarti; Barton Childs; DE Housman; Haig Kazazian ; Stylianos E Antonarakis; Ann E Pulver
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21.
Nature genetics 1998;20(1):70-3.
1998: Hamish Scott; M Heino; Pärt Peterson; L Mittaz; Maria D Lalioti; C Betterle; A Cohen; M Seri; M Lerone; Giovanni Romeo; P Collin; M Salo; Russell A Metcalfe; Anthony P Weetman; MP Papasavvas; Colette Rossier; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; KJ Krohn; Stylianos E Antonarakis
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Molecular endocrinology (Baltimore, Md.) 1998;12(8):1112-9.
1998: Stylianos E Antonarakis
10 years of Genomics, chromosome 21, and Down syndrome.
Genomics 1998;51(1):1-16.
1998: V Lapenta; V Sossi; P Gosset; Catherine Vayssettes; Tiziana Vitali; N Rabatel; F Tassone; J L Blouin; H S Scott; Stylianos E Antonarakis; Nicole Créau; Christina Brahe
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.
Genomics 1998;49(1):1-13.
1998: Maria D Lalioti; Hamish Scott; Pierre Genton; Djamel Grid; Reda Ouazzani; A M'Rabet; S Ibrahim; Riadh Gouider; Charlotte Dravet; Taïeb Chkili; Armand Bottani; Catherine Buresi; Alain Malafosse; Stylianos E Antonarakis
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.
American journal of human genetics 1998;62(4):842-7.
1998: Hamish Scott; Stylianos E Antonarakis; Maria D Lalioti; Colette Rossier; P A Silver; M F Henry
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2).
Genomics 1998;48(3):330-40.
1998: Maria Karayiorgou; Joseph A Gogos; Brandi L Galke; Paula S Wolyniec; Gerald Nestadt; Stylianos E Antonarakis; Haig Kazazian ; D E Housman; Ann E Pulver
Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility.
Biological psychiatry 1998;43(6):425-31.
1998: Jean-Louis Blouin; G Duriaux Saïl; Michel Guipponi; Colette Rossier; M P Pappasavas; Stylianos E Antonarakis
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1.
Human genetics 1998;102(3):282-8.
1998: Nadia Dahmane; G A Ghezala; P Gosset; Z Chamoun; M C Dufresne-Zacharia; Carmela Lopes; N Rabatel; S Gassanova-Maugenre; Zoubida Chettouh; V Abramowski; E Fayet; Marie-Laure Yaspo; Bernd Korn; J L Blouin; Hans Lehrach; A Poutska; Stylianos E Antonarakis; Pierre-Marie Sinet; Nicole Créau; Jean-Maurice Delabar
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.
Genomics 1998;48(1):12-23.
1998: Michel Guipponi; Hamish Scott; M Hattori; K Ishii; Y Sakaki; Stylianos E Antonarakis
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.
Cytogenetics and cell genetics 1998;83(3-4):218-20.
1998: Stylianos E Antonarakis
Molecular genetics of coagulation factor VIII gene and haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 1998;4 Suppl 2():1-11.
1998: G N Buell; F Talabot; A Gos; J Lorenz; E Lai; Michael Morris; Stylianos E Antonarakis
Gene structure and chromosomal localization of the human P2X7 receptor.
Receptors & channels 1998;5(6):347-54.
1998: Hamish Scott; D S Kyriakou; Pärt Peterson; M Heino; M Tähtinen; Kai Krohn; H Chen; Colette Rossier; Maria D Lalioti; Stylianos E Antonarakis
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.
Genomics 1998;47(1):64-70.
1998: Stylianos E Antonarakis
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.
Human mutation 1998;11(1):1-3.
1997: Hamid Mehenni; Jean-Louis Blouin; Uppala Radhakrishna; S S Bhardwaj; K Bhardwaj; V B Dixit; K F Richards; A Bermejo-Fenoll; A S Leal; R C Raval; Stylianos E Antonarakis
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.
American journal of human genetics 1997;61(6):1327-34.
1997: Kentaro Nagamine; Pärt Peterson; Hamish Scott; Jun Kudoh; Shinsei Minoshima; M Heino; KJ Krohn; Maria D Lalioti; P E Mullis; Stylianos E Antonarakis; K Kawasaki; Shuichi Asakawa; F Ito; Nobuyoshi Shimizu
Positional cloning of the APECED gene.
Nature genetics 1997;17(4):393-8.
1997: Kai Krohn; Vladimir Ovod; P Vilja; M Heino; H Scott; D S Kyriakou; Stylianos E Antonarakis; Howard T Jacobs; J Isola; Pärt Peterson
Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3.
Biochemical and biophysical research communications 1997;238(3):806-10.
1997: Ariane Paoloni-Giacobino; Haiming Chen; Manuel Peitsch; Colette Rossier; Stylianos E Antonarakis
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3.
Genomics 1997;44(3):309-20.
1997: L Mittaz; Stylianos E Antonarakis; M Higuchi; Hamish Scott
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15.
Human genetics 1997;100(3-4):398-400.
1997: Uppala Radhakrishna; Jean-Louis Blouin; Hamid Mehenni; T Y Mehta; Frenny J Sheth; FRENNY SHETH; Jitendra V Solanki; Stylianos E Antonarakis
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.
American journal of medical genetics 1997;71(1):80-6.
1997: Marguerite Neerman-Arbez; Stylianos E Antonarakis; Jean-Louis Blouin; Sirous Zeinali; M Akhtari; Y Afshar; Edward G D Tuddenham
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103.
American journal of human genetics 1997;61(1):143-50.
1997: Ariane Paoloni-Giacobino; Haiming Chen; Stylianos E Antonarakis
Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome.
Genomics 1997;43(1):43-51.
1997: S Eliez; Michael Morris; S Dahoun-Hadorn; Celia Delozier-Blanchet; A Gos; P Sizonenko; Stylianos E Antonarakis
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13.
American journal of medical genetics 1997;70(3):222-8.
1997: R Chrast; Hamish Scott; Haiming Chen; Jun Kudoh; Colette Rossier; Shinsei Minoshima; Y Wang; Nobuyoshi Shimizu; Stylianos E Antonarakis
Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.
Genome research 1997;7(6):615-24.
1997: Siv Fokstuen; Armand Bottani; P F Medeiros; Stylianos E Antonarakis; C Stoll; Albert Schinzel
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.
American journal of medical genetics 1997;70(2):130-3.
1997: Hamish Scott; H Chen; Colette Rossier; Maria D Lalioti; Stylianos E Antonarakis
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.
Human genetics 1997;99(5):616-23.
1997: Maria D Lalioti; Hamish Scott; Catherine Buresi; Colette Rossier; Armand Bottani; Michael Morris; Alain Malafosse; Stylianos E Antonarakis
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
Nature 1997;386(6627):847-51.
1997: L Mittaz; Hamish Scott; Colette Rossier; P H Seeburg; M Higuchi; Stylianos E Antonarakis
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3.
Genomics 1997;41(2):210-7.
1997: H Chen; Colette Rossier; Y Nakamura; A Lynn; Aravinda Chakravarti; Stylianos E Antonarakis
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3.
Genomics 1997;41(2):193-200.
1997: Uppala Radhakrishna; Jean-Louis Blouin; Hamid Mehenni; Uday C Patel; M N Patel; Jitendra V Solanki; Stylianos E Antonarakis
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.
American journal of human genetics 1997;60(3):597-604.
1997: M Young; H Inaba; Leon Hoyer; M Higuchi; Haig Kazazian ; Stylianos E Antonarakis
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.
American journal of human genetics 1997;60(3):565-73.
1997: H Chen; Stylianos E Antonarakis
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2.
Human genetics 1997;99(2):262-5.
1997: Maria D Lalioti; M Mirotsou; Catherine Buresi; Manuel Peitsch; Colette Rossier; Reda Ouazzani; Michel Baldy-Moulinier; Armand Bottani; Alain Malafosse; Stylianos E Antonarakis
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
American journal of human genetics 1997;60(2):342-51.
1997: H Chen; Stylianos E Antonarakis
The SH3D1A gene maps to human chromosome 21q22.1-->q22.2.
Cytogenetics and cell genetics 1997;78(3-4):213-5.
1997: Jean Villard; Walter Reith; Emmanuèle Barras; A Gos; Michael Morris; Stylianos E Antonarakis; P J Van den Elsen; Bernard Mach
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency.
Human mutation 1997;10(6):430-5.
1997: Marcelo de Carvalho Bittencourt; Michael Morris; Jacqueline Chabod; A Gos; B Lamy; F Fellmann; Stylianos E Antonarakis; E Plouvier; P Herve; Pierre Tiberghien
Fortuitous detection of uniparental isodisomy of chromosome 6.
Journal of medical genetics 1997;34(1):77-8.