| | Title | Authors / Editors | Date |
|
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: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:20039 |
Alexander disease: early presence of cerebral MRI criteria |
Poloni, Claudia B.; Ferey, Solene; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Korff, Christian |
2009 |
|
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:29360 |
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation |
Calinescu-Tuleasca, Ana Maria; Bottani, Armand; Rougemont-Pidoux, Anne-Laure; Birraux, Jacques Maurice; ... Wildhaber, Barbara |
2013 |
|
unige:10084 |
Comment investiguer une maladie musculaire? |
Kohler, André; Bader, Charles; Bernheim, Laurent; Bottani, Armand; ... Magistris, M. R. |
2003 |
|
unige:32205 |
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report |
Antonarakis, Stylianos; Fokstuen, Siv; Engel, Eric; Dermitzakis, Emmanouil; ... Mostafavi, Maryam |
2011 |
|
unige:21106 |
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features |
Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand |
2010 |
|
unige:143479 |
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy |
Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M |
2020 |
|
unige:42302 |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families |
Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan |
2014 |
|
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:72961 |
Early fatal pontocerebellar hypoplasia in premature twin sisters |
Chaves Vischer, Virginie Isabelle; Pizzolato, Gianpaolo; Hanquinet, Sylviane; Maret, Alexandre; ... Haenggeli, Charles-Antoine |
2000 |
|
unige:55887 |
Early-onset familial dilatation of the ascending aorta |
Beghetti, Maurice; Steinmann, Beat; Didier, Dominique; Kalangos, Afksendiyos; Bottani, Armand |
1999 |
|
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: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:88998 |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders |
Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos |
2016 |
|
unige:107723 |
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU |
Korff, Christian; Bottani, Armand |
2017 |
|
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 |
|
unige:5576 |
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 |
Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos |
2009 |
|
unige:34656 |
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? |
Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand |
2012 |
|
unige:130016 |
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms |
Huin, Vincent; Barbier, Mathieu; Bottani, Armand; Lobrinus, Johannes Alexander; ... Le Ber, Isabelle |
2020 |
|
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: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: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: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:34630 |
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature |
Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline |
2013 |
|
unige:123733 |
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother |
Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane |
2018 |
|
unige:96792 |
Pectus excavatum et carinatum chez l'enfant et l'adolescent : que dire, que faire ? |
Lascombes, Pierre François Marie; Ruchonnet, Isabelle; Beghetti, Maurice; Bottani, Armand; Wilde, James Carl Henri |
2017 |
|
unige:73103 |
Prenatal diagnostic indicators of paternal uniparental disomy 14 |
Curtis, Logos Simian; Antonelli, Eric; Vial, Yvan; Rimensberger, Peter; ... Fokstuen, Siv |
2006 |
|
unige:31173 |
Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma |
El Hassani, Yassine; Jenny, Benoît John; Pittet Cuenod, Brigitte Maud; Bottani, Armand; ... Rilliet, Bénédict |
2013 |
|
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: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:98401 |
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy |
Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian |
2017 |
|
unige:34230 |
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster |
Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos |
2014 |
|
unige:8884 |
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients |
Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique |
2008 |
|
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: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: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: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:76052 |
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? |
Garcia-Tarodo, S; Bottani, Armand; Merlini, Laura; Kaelin, André; ... Korff, Christian |
2015 |
Bottani, Armand
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