Show items per page
Elements: 114
Page 1 on 3
 TitleAuthors / EditorsDate
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
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
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
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
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
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
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
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
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
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
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
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
add to browser selection
Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient Farah, R. A.; De Moerloose, Philippe; Bouchardy, Isabelle; Morris, Michael Andréw; ... Neerman Arbez, Marguerite 2006
add to browser selection
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
<< previous | 1 | 2 | 3 |