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The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein Pitkanen, J.; Doucas, V.; Sternsdorf, T.; Nakajima, T.; ... Peterson, P. 2000
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Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes Pulver, A. E.; Mulle, J.; Nestadt, G.; Swartz, K. L.; ... McGrath, J. A. 2000
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Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 Scott, Hamish Steele; Antonarakis, Stylianos; Mittaz, L.; Lalioti, M. D.; ... Gal, A. 2000
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APECED mutations in the autoimmune regulator (AIRE) gene Heino, M.; Peterson, P.; Kudoh, J.; Shimizu, N.; ... Krohn, K. 2001
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Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP Hussain, N. K.; Jenna, S.; Glogauer, M.; Quinn, C. C.; ... McPherson, P. S. 2001
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Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome Marneros, A. G.; Mehenni, H.; Reichenberger, E.; Antonarakis, Stylianos; ... Olsen, B. R. 2001
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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Isolation and initial characterization of the mouse Dnmt3l gene Aapola, Ulla; Lyle, Robert; Krohn, K.; Antonarakis, Stylianos; Peterson, P. 2001
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BACking up the promises Antonarakis, Stylianos 2001
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Chromosome 21: from sequence to applications Antonarakis, Stylianos 2001
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Differential gene expression studies to explore the molecular pathophysiology of Down syndrome Antonarakis, Stylianos; Lyle, Robert; Chrast, R.; Scott, Hamish Steele 2001
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Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T Attanasio, Catia; De Moerloose, Philippe; Antonarakis, Stylianos; Morris, Michael Andréw; Neerman Arbez, Marguerite 2001
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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos 2001
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. 2001
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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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A cSNP map and database for human chromosome 21 Deutsch, Samuel; Iseli, C.; Bucher, P.; Antonarakis, Stylianos; Scott, Hamish Steele 2001
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Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study Eliez, Stéphan; Antonarakis, Stylianos; Morris, Michael Andréw; Dahoun, S. P.; Reiss, A. L. 2001
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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family Guipponi, Michel; Tapparel, Caroline; Jousson, Olivier; Scamuffa, N.; ... Antonarakis, Stylianos 2001
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From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map Reymond, Alexandre; Friedli, Marc; Henrichsen, C. N.; Chapot, F.; ... Antonarakis, Stylianos 2001
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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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