| | Title | Authors / Editors | Date |
|
unige:9154 |
Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes |
Chen, H.; Lowther, W.; Avramopoulos, D.; Antonarakis, Stylianos |
1994 |
|
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:8822 |
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation |
Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M. |
1996 |
|
unige:8978 |
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 |
Radhakrishna, U.; Blouin, Jean-Louis; Solanki, J. V.; Dhoriani, G. M.; Antonarakis, Stylianos |
1996 |
|
unige:8680 |
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 |
Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos |
1996 |
|
unige:46776 |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval |
Ducros, A; Nagy, T; Alamowitch, S; Nibbio, A; ... Tournier-Lasserve, E |
1996 |
|
unige:9107 |
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene |
Young, M.; Inaba, H.; Hoyer, L. W.; Higuchi, M.; ... Antonarakis, Stylianos |
1997 |
|
unige:8735 |
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 |
Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; ... Antonarakis, Stylianos |
1997 |
|
unige:8847 |
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy |
Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos |
1997 |
|
unige:8890 |
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 |
Mehenni, H.; Blouin, Jean-Louis; Radhakrishna, U.; Bhardwaj, S. S.; ... Antonarakis, Stylianos |
1997 |
|
unige:8926 |
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 |
Neerman Arbez, Marguerite; Antonarakis, Stylianos; Blouin, Jean-Louis; Zeinali, S.; ... Tuddenham, E. G. |
1997 |
|
unige:8976 |
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region |
Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos |
1997 |
|
unige:8977 |
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis |
Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Patel, U. C.; ... Antonarakis, Stylianos |
1997 |
|
unige:8982 |
Mutation in GLI3 in postaxial polydactyly type A |
Radhakrishna, U.; Wild, A.; Grzeschik, K. H.; Antonarakis, Stylianos |
1997 |
|
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:8642 |
Fortuitous detection of uniparental isodisomy of chromosome 6 |
Bittencourt, M. C.; Morris, Michael Andréw; Chabod, J.; Gos, A.; ... Tiberghien, P. |
1997 |
|
unige:8682 |
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 |
Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos |
1997 |
|
unige:74595 |
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy |
Guicheney, P; Vignier, N; Zhang, X; He, Y; ... Tryggvason, K |
1998 |
|
unige:9043 |
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci |
Stratakis, C. A.; Kirschner, L. S.; Taymans, S. E.; Tomlinson, I. P.; ... Carney, J. A. |
1998 |
|
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 |
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