Morris, Michael Andréw | Archive ouverte UNIGE

Title	Published in	Year	Views	Downloads
First evidence of a polygenic susceptibility to pain in a pediatric cohort	Anesthesia and analgesia	2013	644	0
Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease	Scandinavian journal of rheumatology	2012	683	0
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report	Genetics in medicine	2011	665	2
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing	Investigative ophthalmology & visual science	2011	625	0
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation	Epilepsia	2010	713	0
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features	Clinical genetics	2010	688	0
Alpha-1-antitrypsin deficiency in a 78-year-old woman with isolated liver cirrhosis	Journal of the American Geriatrics Society	2010	600	0
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients	American journal of medical genetics. Part A	2008	684	0
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation	Haemophilia	2008	592	0
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events	American journal of medical genetics. Part A	2008	736	4
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome	Human brain mapping	2007	550	0
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother	Brain & development	2007	585	0
Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case	Movement disorders	2007	611	0
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome	The American journal of psychiatry	2006	718	500
Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient	Thrombosis and haemostasis	2006	668	0
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome	Nature neuroscience	2005	553	0
The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study	AIDS	2004	627	0
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells	Blood	2004	661	0
Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family	Blood	2003	964	0
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion	Blood	2003	594	0
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg	Human mutation	2003	634	0
Language skills in children with velocardiofacial syndrome (deletion 22q11.2)	The Journal of pediatrics	2002	612	0
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects	Genomics	2002	580	2
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes	Human genetics	2001	623	0
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T	Blood	2001	603	0
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study	Archives of general psychiatry	2001	564	0
Cystic fibrosis transmembrane conductance regulator does not affect neutrophil migration across cystic fibrosis airway epithelial monolayers	The American journal of pathology	2000	661	0
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia	Blood	2000	594	1
Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia	The Journal of clinical investigation	1999	533	0
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster	European journal of human genetics	1999	568	0
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	Human genetics	1999	665	0
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency	Blood	1999	584	0
Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping	Cytogenetics and cell genetics	1999	616	1
Isolation and characterization of the mouse Aire gene	Biochemical and biophysical research communications	1999	618	0
Needle muscle biopsy in the investigation of neuromuscular disorders	Muscle & nerve	1998	708	388
Gene structure and chromosomal localization of the human P2X7 receptor	Receptors & channels	1998	643	0
Fortuitous detection of uniparental isodisomy of chromosome 6	Journal of medical genetics	1997	602	0
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region	Human genetics	1997	612	0
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency	Human mutation	1997	628	0
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Nature	1997	666	0
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13	American journal of medical genetics	1997	735	0
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	Genomics	1996	639	0
Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping	Genome research	1996	593	0
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter	Genomics	1996	583	0
Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21	Genomics	1996	550	0
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene	Human mutation	1996	653	0
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination	American journal of human genetics	1995	545	0
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2	Genomics	1995	547	0
Schizophrenia and chromosomal deletions within 22q11.2	American journal of human genetics	1995	549	0
Molecular etiology of factor VIII deficiency in hemophilia A	Advances in experimental medicine and biology	1995	568	0
Characterization and chromosomal localization of a human P2X receptor from the urinary bladder	Receptors & channels	1995	595	0
Ischaemic colitis due to mitochondrial cytopathy	Lancet	1995	572	0
Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21	Genomics	1995	512	0
Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene	Human molecular genetics	1994	602	0
Dinucleotide repeat polymorphism within ERCC5 gene	Human molecular genetics	1994	662	0
High incidence of ectopic nucleolar organizer regions in human testicular tumors	Cancer genetics and cytogenetics	1993	621	0