Show items per page
Elements: 116
Page 1 on 3
 TitleAuthors / EditorsDate
add to browser selection
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families Fabre, Alexandre; Petit, Laëtitia Marie; Hansen, Lars F; Wewer, Anne V; ... Paerregaard, Anders 2018
add to browser selection
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries Collaboration 2018
add to browser selection
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
add to browser selection
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
add to browser selection
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium 2016
add to browser selection
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed 2016
add to browser selection
HLA-A-B-C-DRB1-DQB1 phased haplotypes in 124 Nigerian families indicate extreme HLA diversity and low linkage disequilibrium in Central-West Africa Testi, M; Battarra, M; Lucarelli, G; Isgro, A; ... Sanchez-Mazas, Alicia 2015
add to browser selection
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy Korff, Christian 2015
add to browser selection
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
add to browser selection
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
add to browser selection
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers International Parkinson's Disease Genomics Consortium, UCL-exomes consortium 2014
add to browser selection
Mutations of DEPDC5 cause autosomal dominant focal epilepsies Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie 2013
add to browser selection
Haplotype diversity generated by ancient recombination-like events in the MHC of Indian rhesus macaques Doxiadis, Gaby G M; de Groot, Nanine; Otting, Nel; de Vos-Rouweler, Annemiek J M; ... Bontrop, Ronald E 2013
add to browser selection
Natural history of Barth syndrome: a national cohort study of 22 patients Rigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud; Beaupain, Blandine; ... Donadieu, Jean 2013
add to browser selection
Two new families with hereditary minimal change disease Chehade, Hassib; Cachat, Francois; Girardin, Eric; Rotman, Samuel; ... Bonny, Olivier 2013
add to browser selection
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
add to browser selection
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel 2012
add to browser selection
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
add to browser selection
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
add to browser selection
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; ... Mundlos, Stefan 2012
add to browser selection
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
add to browser selection
Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
add to browser selection
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
add to browser selection
VPS35 mutations in Parkinson disease Vilariño-Güell, Carles; Wider, Christian; Ross, Owen A; Dachsel, Justus C; ... Farrer, Matthew J 2011
add to browser selection
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
add to browser selection
Are abdominal wall defects and external genitalia anomalies randomly expressed in some families? Wonkam, Ambroise; Extermann, Philipe; Birraux, Jacques Maurice; Fokstuen, Siv 2011
add to browser selection
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Kern, Ilse 2011
add to browser selection
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite 2011
add to browser selection
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
add to browser selection
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents Marini, Monica; Bocciardi, Renata; Gimelli, Stefania; Di Duca, Marco; ... Ravazzolo, Roberto 2010
add to browser selection
Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations Ansermet, François; Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Giacobino, Ariane 2010
add to browser selection
Clinical and medial temporal features in a family with mood disorders Boccardi, Marina; Almici, Monica; Bresciani, Lorena; Caroli, Anna; ... Frisoni, Giovanni 2010
add to browser selection
Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze) Undas, Anetta; Pastuszczak, Maciej; Iwaniec, Teresa; Kapelak, Krystyna; Neerman Arbez, Marguerite 2010
add to browser selection
Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman Arbez, Marguerite 2010
add to browser selection
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete) Travlou, A.; Gialeraki, A.; Merkouri, E.; Politou, M.; ... Neerman Arbez, Marguerite 2010
add to browser selection
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease Lesage, S; Condroyer, C; Lannuzel, A; Lohmann, E; ... Brice, A 2009
add to browser selection
Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis 2009
add to browser selection
Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function Undas, Anetta; Zdziarska, Joanna; Iwaniec, Teresa; Stepien, Ewa; ... Neerman Arbez, Marguerite 2009
add to browser selection
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function Spinazzi, Marco; Cazzola, Silvia; Bortolozzi, Mario; Baracca, Alessandra; ... Vergani, Lodovica 2008
add to browser selection
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
add to browser selection
Candidate gene analysis in three families with acilia syndrome Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. 2008
add to browser selection
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
add to browser selection
Family history of breast or ovarian cancer modifies the risk of secondary leukemia after breast cancer: results from a population-based study Verkooijen, Helena; Fioretta, Gérald; Rapiti Aylward, Elisabetta; Vlastos, Georges; ... Bouchardy Magnin, Christine 2008
add to browser selection
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype Dayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André 2007
add to browser selection
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 Beiraghi, Soraya; Nath, S. K.; Gaines, Matthew; Mandhyan, D. D.; ... Radhakrishna, Uppala 2007
add to browser selection
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
add to browser selection
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies van Leeuwen, F W; van Tijn, P; Sonnemans, M A F; Hobo, B; ... Fischer, D F 2006
add to browser selection
Double frameshift mutations in APC and MSH2 in the same individual Soravia, Claudio; DeLozier, Celia; Dobbie, Zuzana; Berthod, Claudine Rey; ... Hutter, Pierre 2006
add to browser selection
Aspects cliniques et génétiques du syndrome d’Alport Golshayan, D; Venetz, J P; Cachat, F; Fellmann, F; ... Barbey, F 2006
add to browser selection
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
<< previous | 1 | 2 | 3 |