About: Journal of Medical Genetics

Documentation

scienceplus.abes.fr version Bêta

scienceplus.abes.fr | explorer

À propos de : Journal of Medical Genetics Goto Sponge NotDistinct Permalink

Attributs	Valeurs
type	work Journal
hub:journal-hwp-id	jmedgenet
Title	Journal of Medical Genetics
bibo:shortTitle	J Med Genet
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/m/print http://hub.abes.fr/bmj/periodical/jmg/m/web
publisher identifier	JMG jmg
is Is Part Of of	http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36 http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37 http://hub.abes.fr/bmj/periodical/jmg/2001/volume_38 http://hub.abes.fr/bmj/periodical/jmg/2007/volume_44 http://hub.abes.fr/bmj/periodical/jmg/2008/volume_45 http://hub.abes.fr/bmj/periodical/jmg/2009/volume_46 http://hub.abes.fr/bmj/periodical/jmg/2009/volume_47 http://hub.abes.fr/bmj/periodical/jmg/2009/volume_48 http://hub.abes.fr/bmj/periodical/jmg/2010/volume_47 http://hub.abes.fr/bmj/periodical/jmg/2010/volume_48 http://hub.abes.fr/bmj/periodical/jmg/2011/volume_48 http://hub.abes.fr/bmj/periodical/jmg/2011/volume_49 http://hub.abes.fr/bmj/periodical/jmg/2012/volume_49 http://hub.abes.fr/bmj/periodical/jmg/2013/volume_50
is is part of this journal of	High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain Presymptomatic testing for BRCA1 andBRCA2: how distressing are the pre-test weeks? Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12 Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1- 2 polymorphism and contribution to founder effect Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists Homozygosity mapping to the USH2A locus in two isolated populations Townes-Brocks syndrome The accuracy of diagnoses as reported in families with cancer: a retrospective study Association of a lymphotoxin α gene polymorphism and atopy in Italian families Familial testicular cancer: lack of evidence for trinucleotide repeat expansions and association with PKD1 in one family Tricuspid atresia and conotruncal malformations in five families A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis Costello syndrome and rhabdomyosarcoma Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1) Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism The mutation spectrum in Holt-Oram syndrome Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36 First description of germline mosaicism in familial hypertrophic cardiomyopathy Mutation analysis in glutaric aciduria type I Can hair be used to screen for breast cancer? ASALL1 mutation causes a branchio-oto-renal syndrome-like phenotype Many ΔF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTRmutation How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene Hirschsprung disease, associated syndromes, and genetics: a review Comparative Genomics. Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM Germline mutation analysis of the transforming growth factor β receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer Clinical studies on submicroscopic subtelomeric rearrangements: a checklist MECP2 mutation in non-fatal, non-progressive encephalopathy in a male Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus Peutz-Jeghers families unlinked toSTK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6gene Distal arthrogryposis: a new type with distinct facial appearance and absent teeth MET mutation and familial gastric cancer A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome GATA4 sequence variants in patients with congenital heart disease Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15 Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3 We need a detailed phenome in the phenomenon of genetics and congenital heart disease BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders Evaluation of a surveillance programme for women with a family history of breast cancer Genetics of microtia and associated syndromes The effect of the MHC locus on autoantibodies in type 1 diabetes Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum A novel FTL insertion causing neuroferritinopathy CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability New clinical genetics—2nd edition The genetics of panic disorder Determining the frequency of de novo germline mutations in DNA mismatch repair genes CHRNG genotype-phenotype correlations in the multiple pterygium syndromes Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients Advances in osteoarthritis genetics Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy Recent advances in the genetics of sarcoidosis Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1 Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata