| Title | Authors / Editors | Date |
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:8746 |
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients |
Fokstuen, Siv; Bottani, Armand; Medeiros, P. F.; Antonarakis, Stylianos; ... Schinzel, A. |
1997 |
unige:8844 |
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) |
Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos |
1997 |
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 |
unige:55887 |
Early-onset familial dilatation of the ascending aorta |
Beghetti, Maurice; Steinmann, Beat; Didier, Dominique; Kalangos, Afksendiyos; Bottani, Armand |
1999 |
unige:74316 |
MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity |
DeLozier-Blanchet, C; Haenggeli, Charles-Antoine; Bottani, Armand |
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:72961 |
Early fatal pontocerebellar hypoplasia in premature twin sisters |
Chaves Vischer, Virginie Isabelle; Pizzolato, Gianpaolo; Hanquinet, Sylviane; Maret, Alexandre; ... Haenggeli, Charles-Antoine |
2000 |
unige:54899 |
Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family |
Kohler, André; Burkhard, Pierre; Hefft, S; Bottani, Armand; ... Magistris, Michel |
2000 |
unige:10084 |
Comment investiguer une maladie musculaire? |
Kohler, André; Bader, Charles; Bernheim, Laurent; Bottani, Armand; ... Magistris, M. R. |
2003 |
unige:73103 |
Prenatal diagnostic indicators of paternal uniparental disomy 14 |
Curtis, Logos Simian; Antonelli, Eric; Vial, Yvan; Rimensberger, Peter; ... Fokstuen, Siv |
2006 |
unige:8815 |
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions |
Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre |
2006 |
unige:8920 |
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis |
Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala |
2006 |
unige:44539 |
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report |
Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict |
2007 |
unige:44739 |
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype |
Dayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André |
2007 |
unige:43113 |
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1 |
Bottani, Armand; Orrico, Alfredo; Galli, Lucia; Karam, Oliver Laurent; ... Conrad, Bernard |
2007 |
unige:45494 |
Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case |
Horvath, Judit; Burkhard, Pierre; Morris, Michael Andréw; Bottani, Armand; ... Delavelle, Jacqueline |
2007 |
unige:8654 |
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation |
Bottani, Armand; Chelly, Jamel; de Brouwer, A. P.; Pardo, Bruno; ... Conrad, Bernard |
2007 |
unige:8702 |
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother |
Dayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw |
2007 |
unige:8921 |
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 |
Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala |
2007 |