| | Title | Authors / Editors | Date |
|
unige:8731 |
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome |
Driess, S.; Freese, K.; Bornholdt, D.; Kobelt, A.; ... Kalff-Suske, M. |
2003 |
|
unige:8658 |
Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2 |
Buchet-Poyau, K.; Mehenni, H.; Radhakrishna, U.; Antonarakis, Stylianos |
2002 |
|
unige:9029 |
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 |
|
unige:8981 |
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree |
Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:8638 |
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 |
|
unige:8834 |
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping |
Kibar, Z.; Dube, M. P.; Powell, J.; McCuaig, C.; ... Rouleau, G. A. |
2000 |
|
unige:8849 |
Mutations in GJB6 cause hidrotic ectodermal dysplasia |
Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. |
2000 |
|
unige:8649 |
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity |
Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos |
2000 |
|
unige:8698 |
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 |
Curtis, L.; Blouin, Jean-Louis; Radhakrishna, U.; Gehrig, Corinne; ... Antonarakis, Stylianos |
1999 |
|
unige:8979 |
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations |
Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos |
1999 |
|
unige:8605 |
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 |
Antonarakis, Stylianos; Blouin, Jean-Louis; Lasseter, V. K.; Gehrig, Corinne; ... Pulver, A. E. |
1999 |
|
unige:8646 |
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 |
Blouin, Jean-Louis; Dombroski, B. A.; Nath, S. K.; Lasseter, V. K.; ... Pulver, A. E. |
1998 |
|
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: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: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 |
Radhakrishna, U.
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