| | Title | Authors / Editors | Date |
|
unige:90270 |
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 |
Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E |
2014 |
|
unige:25454 |
VPS35 mutations in Parkinson disease |
Vilariño-Güell, Carles; Wider, Christian; Ross, Owen A; Dachsel, Justus C; ... Farrer, Matthew J |
2011 |
|
unige:35509 |
Two new families with hereditary minimal change disease |
Chehade, Hassib; Cachat, Francois; Girardin, Eric; Rotman, Samuel; ... Bonny, Olivier |
2013 |
|
unige:32729 |
Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III. |
Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta |
2011 |
|
unige:25784 |
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum |
Kern, Ilse |
2011 |
|
unige:138454 |
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus |
Martin-Montalvo, Alejandro; López-Noriega, Livia; Jiménez-Moreno, Carmen; Herranz, Amanda; ... Gauthier, Benoit R |
2019 |
|
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:146004 |
The spectrum of intermediate SCN8A-related epilepsy |
Johannesen, Katrine M; Gardella, Elena; Encinas, Alejandra C; Lehesjoki, Anna-Elina; ... Møller, Rikke S |
2019 |
|
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:8923 |
The molecular basis of inherited afibrinogenaemia |
Neerman Arbez, Marguerite |
2001 |
|
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:8841 |
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion |
Lalioti, M. D.; Antonarakis, Stylianos; Scott, Hamish Steele |
2003 |
|
unige:8927 |
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster |
Neerman Arbez, Marguerite; Antonarakis, Stylianos; Honsberger, A.; Morris, Michael Andréw |
1999 |
|
unige:26597 |
Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22 |
Savioz, Armand; Riederer, Beat M; Heutink, Peter; Rizzu, Patrizia; ... Leuba, Geneviève |
2003 |
|
unige:1872 |
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5 |
Wider, C.; Melquist, S.; Hauf, M.; Solida, A.; ... Vingerhoets, François |
2008 |
|
unige:9000 |
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) |
Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos |
1999 |
|
unige:8872 |
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region |
Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos |
2006 |
|
unige:26601 |
Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia |
Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G |
2000 |
|
unige:37956 |
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia |
Marelli, Cecilia; van de Leemput, Joyce; Johnson, Janel O; Tison, Francois; ... Brice, Alexis |
2011 |
|
unige:145465 |
RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities |
Cousin, Margot A; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; ... Klee, Eric W |
2019 |
|
unige:25377 |
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing |
Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala |
2011 |
|
unige:8639 |
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region |
Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. |
2000 |
|
unige:9259 |
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 |
Scott, Hamish Steele; Antonarakis, Stylianos; Mittaz, L.; Lalioti, M. D.; ... Gal, A. |
2000 |
|
unige:77288 |
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report |
Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos |
2014 |
|
unige:32814 |
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population |
Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel |
2012 |
|
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:45481 |
Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum |
Soravia, Claudio; van der Klift, Heleen; Brundler, Marie-Anne; Blouin, Jean-Louis; ... Delozier-Blanchet, Célia |
2003 |
|
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:1798 |
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations |
Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia |
2008 |
|
unige:148712 |
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome |
Le Brun Keris, Yann; Jouk, Pierre-Simon; Saada-Sebag, Géraldine; Roux, Jean-Jacques; ... Lespinasse, James |
2008 |
|
unige:8937 |
Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family |
Neerman Arbez, Marguerite; Vu, Dung; Abu-Libdeh, Bassam; Bouchardy, Isabelle; Morris, Michael Andréw |
2003 |
|
unige:43412 |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders |
Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; ... Gleeson, Joseph G |
2013 |
|
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: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:88999 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia |
Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko |
2016 |
|
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:95946 |
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers |
International Parkinson's Disease Genomics Consortium, UCL-exomes consortium |
2014 |
|
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: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:8888 |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness |
Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel |
2001 |
|
unige:34648 |
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus |
Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos |
2012 |
|
unige:128978 |
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries |
Collaboration |
2018 |
|
unige:46422 |
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14 |
Grötzsch, H; Pizzolato, Gianpaolo; Ghika, J; Schorderet, D; ... Burkhard, Pierre |
2002 |
|
unige:35211 |
Natural history of Barth syndrome: a national cohort study of 22 patients |
Rigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud; Beaupain, Blandine; ... Donadieu, Jean |
2013 |
|
unige:37947 |
Mutations of DEPDC5 cause autosomal dominant focal epilepsies |
Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie |
2013 |
|
unige:9092 |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients |
Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos |
2002 |
|
unige:8849 |
Mutations in GJB6 cause hidrotic ectodermal dysplasia |
Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; ... Waksman, G. |
2000 |
|
unige:32312 |
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia |
Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite |
2012 |
|
unige:8982 |
Mutation in GLI3 in postaxial polydactyly type A |
Radhakrishna, U.; Wild, A.; Grzeschik, K. H.; Antonarakis, Stylianos |
1997 |
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