| | Title | Authors / Editors | Date |
|
unige:34645 |
Genomic determinants in the phenotypic variability of Down syndrome |
Letourneau, Audrey; Antonarakis, Stylianos |
2012 |
|
unige:9231 |
Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing |
Nikolaev, S. I.; Iseli, Christian; Sharp, A. J.; Robyr, Daniel; ... Antonarakis, Stylianos |
2009 |
|
unige:9033 |
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 |
Sethupathy, Praveen; Borel, Christelle; Gagnebin, Maryline; Grant, G. R.; ... Antonarakis, Stylianos |
2007 |
|
unige:8871 |
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 |
Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos |
2007 |
|
unige:8969 |
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance |
Prandini, Paola; Deutsch, Samuel; Lyle, Robert; Gagnebin, Maryline; ... Antonarakis, Stylianos |
2007 |
|
unige:9094 |
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein |
Wattenhofer, Marie; Sahin-Calapoglu, Nilufer; Andreasen, Ditte; Kalay, Ersan; ... Antonarakis, Stylianos |
2005 |
|
unige:8722 |
Detection of aneuploidies by paralogous sequence quantification |
Deutsch, Samuel; Choudhury, U.; Merla, Giuseppe; Howald, C.; ... Antonarakis, Stylianos |
2004 |
|
unige:8612 |
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology |
Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre |
2002 |
|
unige:8988 |
Nineteen additional unpredicted transcripts from human chromosome 21 |
Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos |
2002 |
|
unige:8603 |
Chromosome 21: from sequence to applications |
Antonarakis, Stylianos |
2001 |
|
unige:9095 |
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains |
Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; ... Scott, Hamish Steele |
2001 |
|
unige:9259 |
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 |
|
unige:8627 |
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 |
Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos |
2000 |
|
unige:8796 |
The DNA sequence of human chromosome 21 |
Hattori, M. |
2000 |
|
unige:8777 |
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 |
Guipponi, Michel; Yaspo, M. L.; Riesselman, L.; Chen, H.; ... Antonarakis, Stylianos |
2000 |
|
unige:8964 |
APECED: a monogenic autoimmune disease providing new clues to self-tolerance |
Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. |
1998 |
|
unige:9026 |
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2) |
Scott, Hamish Steele; Antonarakis, Stylianos; Lalioti, M. D.; Rossier, Colette; ... Henry, M. F. |
1998 |
|
unige:9030 |
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis |
Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos |
1998 |
|
unige:8852 |
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 |
Lapenta, V.; Sossi, V.; Gosset, P.; Vayssettes, C.; ... Brahe, C. |
1998 |
|
unige:8699 |
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome |
Dahmane, N.; Ghezala, G. A.; Gosset, P.; Chamoun, Z.; ... Delabar, J. M. |
1998 |
Chromosomes, Human, Pair 21
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