Show items per page
Elements: 116
Page 1 on 3
 TitleAuthors / EditorsDate
add to browser selection
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos 1998
add to browser selection
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients Masternak, Krzysztof; Barras, Emmanuele; Zufferey, Madeleine; Conrad, Bernard; ... Reith, Walter 1998
add to browser selection
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. 1996
add to browser selection
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 de Mollerat, X. J.; Gurrieri, Fiorella; Morgan, C. T.; Sangiorgi, Eugenio; ... Schwartz, C. E. 2003
add to browser selection
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes Wang, S. Y.; Cruts, M.; Del-Favero, J.; Zhang, Y.; ... van Broeckhoven, C. 1999
add to browser selection
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region Bartsch, O.; Hinkel, G. K.; Petersen, M. B.; Konig, U.; ... Antonarakis, Stylianos 1997
add to browser selection
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q Dauvilliers, Yves; Blouin, Jean-Louis; Neidhart, Elisabeth; Carlander, Bertrand; ... Tafti, Mehdi 2004
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
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
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 novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein Wattenhofer, Marie; Sahin-Calapoglu, Nilufer; Andreasen, Ditte; Kalay, Ersan; ... Antonarakis, Stylianos 2005
add to browser selection
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene Ferreiro-girani, Ana; Monnier, Nicole; Romero, Norma B; Leroy, Jean-Paul; ... Guicheney, Pascale 2002
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
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
add to browser selection
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 Radhakrishna, U.; Blouin, Jean-Louis; Solanki, J. V.; Dhoriani, G. M.; Antonarakis, Stylianos 1996
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
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
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
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
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
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci Stratakis, C. A.; Kirschner, L. S.; Taymans, S. E.; Tomlinson, I. P.; ... Carney, J. A. 1998
add to browser selection
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval Ducros, A; Nagy, T; Alamowitch, S; Nibbio, A; ... Tournier-Lasserve, E 1996
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
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos 1997
add to browser selection
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos 1996
add to browser selection
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping Kibar, Z.; Dube, M. P.; Powell, J.; McCuaig, C.; ... Rouleau, G. A. 2000
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
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
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M. 1996
add to browser selection
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion Vu, Dung; Bolton-Maggs, P. H.; Parr, J. R.; Morris, Michael Andréw; ... Neerman Arbez, Marguerite 2003
add to browser selection
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy Korff, Christian 2015
add to browser selection
Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia Neerman Arbez, Marguerite; Honsberger, A.; Antonarakis, Stylianos; Morris, Michael Andréw 1999
add to browser selection
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Lalioti, M. D.; Scott, Hamish Steele; Buresi, C.; Rossier, Colette; ... Antonarakis, Stylianos 1997
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
Double frameshift mutations in APC and MSH2 in the same individual Soravia, Claudio; De Lozier, Celia; Dobbie, Zuzana; Berthod, Claudine; ... Hutter, Pierre 2005
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
Early-onset familial dilatation of the ascending aorta Beghetti, Maurice; Steinmann, Beat; Didier, Dominique; Kalangos, Afksendiyos; Bottani, Armand 1999
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
add to browser selection
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe 2004
add to browser selection
Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease Kovari, Eniko Veronika; Leuba, G; Savioz, Armand; Saini, Krishan; ... Bouras, Constantin 2000
add to browser selection
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; ... Antonarakis, Stylianos 1997
add to browser selection
Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer Bapat, B V; Madlensky, L; Temple, L K; Hiruki, T; ... Gallinger, S 1999
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
Fibrinogen gene mutations accounting for congenital afibrinogenemia Neerman Arbez, Marguerite 2001
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
Fortuitous detection of uniparental isodisomy of chromosome 6 Bittencourt, M. C.; Morris, Michael Andréw; Chabod, J.; Gos, A.; ... Tiberghien, P. 1997
add to browser selection
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B Wiszniewski, W.; Fondaneche, M. C.; Lambert, N.; Masternak, Krzysztof; ... Lisowska-Grospierre, B. 2000
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
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
Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis Quintana-Murci, Lluís; Veitia, Reiner; Fellous, Marc; Semino, Ornella; Poloni, Estella S. 2003
<< previous | 1 | 2 | 3 |