Affiner les résultats

Altered Spacing of Promoter Elements Due to the Dodecamer Repeat Expansion Contributes to Reduced Expression of the Cystatin B Gene in EPM1

Lalioti, Maria D. ; Scott, Hamish S. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 1999, vol. 8, no. 9, p. 1791-1798

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

Menzel, Olivier ; Vellai, Tibor ; Takacs-Vellai, Krisztina ; Reymond, Alexandre ; Müller, Fritz ; Antonarakis, Stylianos E. ; Guipponi, Michel

In: Genomics, 2004, vol. 84, p. 320-330

Down syndrome (DS), as a phenotypic result of trisomy 21, is the most frequent aneuploidy at birth and the most common known genetic cause of mental retardation. DS is also characterized by other phenotypes affecting many organs, including brain, muscle, heart, limbs, gastrointestinal tract, skeleton, and blood. Any of the human chromosome 21 (Hsa21) genes may contribute to some of the DS...

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

Castelo, Robert ; Reymond, Alexandre ; Wyss, Carine ; Câmara, Francisco ; Parra, Genís ; Antonarakis, Stylianos E. ; Guigó, Roderic ; Eyras, Eduardo

In: Nucleic Acids Research, 2005, vol. 33, no. 6, p. 1935-1939

Galanin pathogenic mutations in temporal lobe epilepsy

Guipponi, Michel ; Chentouf, Amina ; Webling, Kristin E.B. ; Freimann, Krista ; Crespel, Arielle ; Nobile, Carlo ; Lemke, Johannes R. ; Hansen, Jörg ; Dorn, Thomas ; Lesca, Gaetan ; Ryvlin, Philippe ; Hirsch, Edouard ; Rudolf, Gabrielle ; Rosenberg, Dominique Sarah ; Weber, Yvonne ; Becker, Felicitas ; Helbig, Ingo ; Muhle, Hiltrud ; Salzmann, Annick ; Chaouch, Malika ; Oubaiche, Mohand Laid ; Ziglio, Serena ; Gehrig, Corinne ; Santoni, Federico ; Pizzato, Massimo ; Langel, Ülo ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2015, vol. 24, no. 11, p. 3082-3091

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

Deutsch, Samuel ; Lyle, Robert ; Dermitzakis, Emmanouil T. ; Attar, Homa ; Subrahmanyan, Lakshman ; Gehrig, Corinne ; Parand, Leila ; Gagnebin, Maryline ; Rougemont, Jacques ; Jongeneel, C. Victor ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2005, vol. 14, no. 23, p. 3741-3749

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin

Kazadi, Kayole ; Loeuillet, Corinne ; Deutsch, Samuel ; Ciuffi, Angela ; Muñoz, Miguel ; Beckmann, Jacques S. ; Moradpour, Darius ; Antonarakis, Stylianos E. ; Telenti, Amalio

In: Nucleic Acids Research, 2008, vol. 36, no. 21, p. 6918-6925

Genomic structure of a copy of the human TPTE gene which encompasses 87kb on the short arm of chromosome 21

Guipponi, Michel ; Yaspo, Marie-Laure ; Riesselman, Lisa ; Chen, Haiming ; De Sario, Albertina ; Roizès, Gérard ; Antonarakis, Stylianos E.

In: Human Genetics, 2000, vol. 107, no. 2, p. 127-131

The Haemophilia A Mutation Search Test and Resource Site, Home Page of the Factor VIII Mutation Database: HAMSTeRS

Wacey, Adam I. ; Kemball-Cook, Geoffrey ; Kazazian, Haig H. ; Antonarakis, Stylianos E. ; Schwaab, Rainer ; Lindley, Peter ; Tuddenham, E. G. D.

In: Nucleic Acids Research, 1996, vol. 24, no. 1, p. 100-102

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Giorgio, Elisa ; Robyr, Daniel ; Spielmann, Malte ; Ferrero, Enza ; Di Gregorio, Eleonora ; Imperiale, Daniele ; Vaula, Giovanna ; Stamoulis, Georgios ; Santoni, Federico ; Atzori, Cristiana ; Gasparini, Laura ; Ferrera, Denise ; Canale, Claudio ; Guipponi, Michel ; Pennacchio, Len A. ; Antonarakis, Stylianos E. ; Brussino, Alessandro ; Brusco, Alfredo

In: Human Molecular Genetics, 2015, vol. 24, no. 11, p. 3143-3154

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes

Mehenni, Hamid ; Lin-Marq, Nathalie ; Buchet-Poyau, Karine ; Reymond, Alexandre ; Collart, Martine A. ; Picard, Didier ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2005, vol. 14, no. 15, p. 2209-2219