MM
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| First evidence of a polygenic susceptibility to pain in a pediatric cohort | Anesthesia and analgesia |  | 2013 | 586 | 0 | ||
| Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease | Scandinavian journal of rheumatology | | 2012 | 594 | 0 | ||
| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | 2011 | 568 | 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 | 562 | 0 | ||
| A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation | Epilepsia | | 2010 | 605 | 0 | ||
| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | 2010 | 623 | 0 | ||
| Alpha-1-antitrypsin deficiency in a 78-year-old woman with isolated liver cirrhosis | Journal of the American Geriatrics Society | | 2010 | 538 | 0 | ||
| Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients | American journal of medical genetics. Part A | | 2008 | 613 | 0 | ||
| Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation | Haemophilia | | 2008 | 526 | 0 | ||
| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | 2008 | 633 | 4 | ||
| Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome | Human brain mapping | | 2007 | 493 | 0 | ||
| MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother | Brain & development | | 2007 | 517 | 0 | ||
| Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case | Movement disorders | | 2007 | 556 | 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 | 637 | 410 | ||
| Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient | Thrombosis and haemostasis | | 2006 | 594 | 0 | ||
| COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome | Nature neuroscience | | 2005 | 486 | 0 | ||
| The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study | AIDS | | 2004 | 556 | 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 | 584 | 0 | ||
| Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family | Blood | | 2003 | 895 | 0 | ||
| Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion | Blood | | 2003 | 508 | 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 | 572 | 0 | ||
| Language skills in children with velocardiofacial syndrome (deletion 22q11.2) | The Journal of pediatrics | | 2002 | 548 | 0 | ||
| A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects | Genomics | | 2002 | 520 | 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 | 557 | 0 | ||
| Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T | Blood | | 2001 | 536 | 0 | ||
| Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study | Archives of general psychiatry | | 2001 | 506 | 0 | ||
| Cystic fibrosis transmembrane conductance regulator does not affect neutrophil migration across cystic fibrosis airway epithelial monolayers | The American journal of pathology | | 2000 | 593 | 0 | ||
| Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia | Blood | | 2000 | 513 | 1 | ||
| Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia | The Journal of clinical investigation | | 1999 | 480 | 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 | 491 | 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 | 569 | 0 | ||
| Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency | Blood | | 1999 | 514 | 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 | 565 | 1 | ||
| Isolation and characterization of the mouse Aire gene | Biochemical and biophysical research communications | | 1999 | 562 | 0 | ||
| Needle muscle biopsy in the investigation of neuromuscular disorders | Muscle & nerve | | 1998 | 627 | 149 | ||
| Gene structure and chromosomal localization of the human P2X7 receptor | Receptors & channels | 1998 | 581 | 0 | |||
| Fortuitous detection of uniparental isodisomy of chromosome 6 | Journal of medical genetics | | 1997 | 511 | 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 | 548 | 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 | 522 | 0 | ||
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Nature | | 1997 | 599 | 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 | 624 | 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 | 567 | 0 | ||
| Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping | Genome research | | 1996 | 535 | 0 | ||
| Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter | Genomics | | 1996 | 542 | 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 | 495 | 0 | ||
| Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene | Human mutation | | 1996 | 589 | 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 | 493 | 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 | 482 | 0 | ||
| Schizophrenia and chromosomal deletions within 22q11.2 | American journal of human genetics | | 1995 | 482 | 0 | ||
| Molecular etiology of factor VIII deficiency in hemophilia A | Advances in experimental medicine and biology | 1995 | 519 | 0 | |||
| Characterization and chromosomal localization of a human P2X receptor from the urinary bladder | Receptors & channels | 1995 | 504 | 0 | |||
| Ischaemic colitis due to mitochondrial cytopathy | Lancet | | 1995 | 504 | 0 | ||
| Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 | Genomics | | 1995 | 449 | 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 | 552 | 0 | |||
| Dinucleotide repeat polymorphism within ERCC5 gene | Human molecular genetics | 1994 | 587 | 0 | |||
| High incidence of ectopic nucleolar organizer regions in human testicular tumors | Cancer genetics and cytogenetics | 1993 | 561 | 0 |
