| | Title | Authors / Editors | Date |
|
unige:8600 |
10 years of Genomics, chromosome 21, and Down syndrome |
Antonarakis, Stylianos |
1998 |
|
unige:78097 |
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis |
Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga |
2015 |
|
unige:8756 |
A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22) |
Gill, M.; Vallada, H.; Collier, D.; Sham, P.; ... Read, C. M. |
1996 |
|
unige:9001 |
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients |
Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos |
1998 |
|
unige:8723 |
A cSNP map and database for human chromosome 21 |
Deutsch, Samuel; Iseli, C.; Bucher, P.; Antonarakis, Stylianos; Scott, Hamish Steele |
2001 |
|
unige:34667 |
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia |
Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique |
2011 |
|
unige:1055 |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |
Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
|
unige:9032 |
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 |
Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. |
1996 |
|
unige:8706 |
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 |
de Mollerat, X. J.; Gurrieri, Fiorella; Morgan, C. T.; Sangiorgi, Eugenio; ... Schwartz, C. E. |
2003 |
|
unige:9087 |
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes |
Wang, S. Y.; Cruts, M.; Del-Favero, J.; Zhang, Y.; ... van Broeckhoven, C. |
1999 |
|
unige:8628 |
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region |
Bartsch, O.; Hinkel, G. K.; Petersen, M. B.; Konig, U.; ... Antonarakis, Stylianos |
1997 |
|
unige:77371 |
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; ... Brusco, Alfredo |
2015 |
|
unige:9022 |
A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years |
Savioz, Armand; Blouin, Jean-Louis; Guidi, S.; Antonarakis, Stylianos; Bouras, Constantin |
1997 |
|
unige:20619 |
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes |
De Cegli, Rossella; Romito, Antonio; Iacobacci, Simona; Mao, Lei; ... Cobellis, G. |
2010 |
|
unige:8701 |
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q |
Dauvilliers, Yves; Blouin, Jean-Louis; Neidhart, Elisabeth; Carlander, Bertrand; ... Tafti, Mehdi |
2004 |
|
unige:8645 |
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination |
Blouin, Jean-Louis; Christie, D. H.; Gos, A.; Lynn, A.; ... Antonarakis, Stylianos |
1995 |
|
unige:8962 |
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome |
Pereira, P. L.; Magnol, Laetitia; Sahun, Ignasi; Brault, Veronique; ... Herault, Yann |
2009 |
|
unige:42277 |
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly |
Makrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S; Otaify, Ghada A; Antonarakis, Stylianos |
2014 |
|
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:8848 |
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 |
Lalioti, M. D.; Scott, Hamish Steele; Genton, P.; Grid, D.; ... Antonarakis, Stylianos |
1998 |
Antonarakis, Stylianos
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