Show items per page
Elements: 56
Page 1 on 2
 TitleAuthors / EditorsDate
add to browser selection
First evidence of a polygenic susceptibility to pain in a pediatric cohort Mamie, Chantal; Rebsamen, Michela; Morris, Michael Andréw; Morabia, Alfredo 2013
add to browser selection
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease Trombetti, Andrea; Cortes, Flavio; Kaelin, André; Morris, Michael Andréw; Rizzoli, René 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
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Antonarakis, Stylianos; Fokstuen, Siv; Engel, Eric; Dermitzakis, Emmanouil; ... Mostafavi, Maryam 2011
add to browser selection
Alpha-1-antitrypsin deficiency in a 78-year-old woman with isolated liver cirrhosis Voide, Nathalie; Ardigo, Sheila; Morris, Michael Andréw; Rubbia-Brandt, Laura; ... Vischer, Ulrich Max 2010
add to browser selection
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation Le Gal, Francois; Korff, Christian; Monso-Hinard, Christine; Mund, Michael T.; ... Schmitt-Mechelke, Thomas 2010
add to browser selection
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
add to browser selection
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
add to browser selection
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
add to browser selection
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation Djambas Khayat, C.; Salem, N.; Chouery, E.; Corbani, S.; ... Mégarbané, A. 2008
add to browser selection
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
add to browser selection
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
add to browser selection
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome Gothelf, Doron; Hoeft, Fumiko; Hinard, Christine; Hallmayer, J. F.; ... Reiss, A. L. 2007
add to browser selection
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome Glaser, Bronwyn; Debbané, Martin; Hinard, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 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
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome Gothelf, Doron; Eliez, Stéphan; Thompson, Tracy; Hinard, Christine; ... Reiss, A. L. 2005
add to browser selection
The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study Felley, Christian; Morris, Michael Andréw; Wonkam, Ambroise; Hirschel, Bernard; ... Frossard, Jean-Louis 2004
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
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
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg Weinhaeusel, Andreas; Morris, Michael Andréw; Antonarakis, Stylianos; Haas, O. A. 2003
add to browser selection
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
add to browser selection
Language skills in children with velocardiofacial syndrome (deletion 22q11.2) Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2002
add to browser selection
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects Spitz, François; Montavon, Thomas; Monso-Hinard, Christine; Morris, Michael Andréw; ... Duboule, Denis 2002
add to browser selection
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T Attanasio, Catia; De Moerloose, Philippe; Antonarakis, Stylianos; Morris, Michael Andréw; Neerman Arbez, Marguerite 2001
add to browser selection
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study Eliez, Stéphan; Antonarakis, Stylianos; Morris, Michael Andréw; Dahoun, S. P.; Reiss, A. L. 2001
add to browser selection
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes Neerman Arbez, Marguerite; De Moerloose, Philippe; Honsberger, A.; Parlier, G.; ... Morris, Michael Andréw 2001
add to browser selection
Cystic fibrosis transmembrane conductance regulator does not affect neutrophil migration across cystic fibrosis airway epithelial monolayers Pizurki, Lara Johanna; Morris, Michael Andréw; Chanson, Marc; Solomon, Melete; ... Suter, Susanne 2000
add to browser selection
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw 2000
add to browser selection
Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping Bartoloni, Lucia; Blouin, Jean-Louis; Sainsbury, A. J.; Gos, A.; ... Antonarakis, Stylianos 1999
add to browser selection
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
add to browser selection
Isolation and characterization of the mouse Aire gene Mittaz, L.; Rossier, Colette; Heino, M.; Peterson, P.; ... Scott, Hamish Steele 1999
add to browser selection
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
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
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency Neerman Arbez, Marguerite; Johnson, K. M.; Morris, Michael Andréw; McVey, J. H.; ... Tuddenham, E. G. 1999
add to browser selection
Needle muscle biopsy in the investigation of neuromuscular disorders Magistris, M. R.; Kohler, André; Pizzolato, G.; Morris, Michael Andréw; ... Bader, Charles 1998
add to browser selection
Gene structure and chromosomal localization of the human P2X7 receptor Buell, G. N.; Talabot, F.; Gos, A.; Lorenz, J.; ... Antonarakis, Stylianos 1998
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
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
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
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
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency Villard, Jean; Reith, Walter; Barras, Emmanuele; Gos, A.; ... Mach, Bernard 1997
add to browser selection
The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3 Lalioti, M. D.; Gos, A.; Green, M. R.; Rossier, Colette; ... Antonarakis, Stylianos 1996
add to browser selection
Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Chen, H.; Gos, A.; ... Antonarakis, Stylianos 1996
add to browser selection
Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping Chen, H.; Chrast, R.; Rossier, Colette; Morris, Michael Andréw; ... Antonarakis, Stylianos 1996
add to browser selection
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter Chen, H.; Gos, A.; Morris, Michael Andréw; Antonarakis, Stylianos 1996
add to browser selection
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene Perrin, G.; Morris, Michael Andréw; Antonarakis, Stylianos; Boltshauser, E.; Hutter, Pierre 1996
add to browser selection
Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Gitschier, J.; Hutter, P.; ... Morris, Michael Andréw 1995
add to browser selection
Characterization and chromosomal localization of a human P2X receptor from the urinary bladder Valera, S.; Talabot, F.; Evans, R. J.; Gos, A.; ... Buell, G. N. 1995
add to browser selection
Ischaemic colitis due to mitochondrial cytopathy Hess, J; Burkhard, Pierre; Morris, Michael Andréw; Lalioti, M; ... Hadengue, Antoine 1995
add to browser selection
Schizophrenia and chromosomal deletions within 22q11.2 Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E. 1995
<< previous | 1 | 2 |