abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to...

journal_title：BMC medical genetics

authors： Bohlega S,Al Shubili A,Edris A,Alreshaid A,Alkhairallah T,AlSous MW,Farah S,Abu-Amero KK

更新日期：2007-11-09 00:00:00

abstract：:The Framingham Heart Study, founded in 1948 to examine the epidemiology of cardiovascular disease in a small town outside of Boston, has become the worldwide standard for cardiovascular epidemiology. It is among the longest running, most comprehensively characterized multi-generational studies in the world. Such semin...

journal_title：BMC medical genetics

authors： Jaquish CE

更新日期：2007-10-04 00:00:00

abstract：BACKGROUND:Obesity is related to multiple cardiovascular disease (CVD) risk factors as well as CVD and has a strong familial component. We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures of adiposity in the Framingham Heart Study. METHODS:A total of 1341 Framingham Heart Study part...

journal_title：BMC medical genetics

authors： Fox CS,Heard-Costa N,Cupples LA,Dupuis J,Vasan RS,Atwood LD

更新日期：2007-09-19 00:00:00

abstract：BACKGROUND:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...

journal_title：BMC medical genetics

authors： Cavallari U,Trabetti E,Malerba G,Biscuola M,Girelli D,Olivieri O,Martinelli N,Angiolillo DJ,Corrocher R,Pignatti PF

更新日期：2007-09-05 00:00:00

abstract：BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...

journal_title：BMC medical genetics

authors： Gutiérrez-Aguilar R,Benmezroua Y,Vaillant E,Balkau B,Marre M,Charpentier G,Sladek R,Froguel P,Neve B

更新日期：2007-08-09 00:00:00

abstract：BACKGROUND:The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are influenced by 5-HT, and initial studies report an association of TPH2 alleles with childhood-onset obsessive-compulsive disorder (OCD) and with autism. GLO...

journal_title：BMC medical genetics

authors： Sacco R,Papaleo V,Hager J,Rousseau F,Moessner R,Militerni R,Bravaccio C,Trillo S,Schneider C,Melmed R,Elia M,Curatolo P,Manzi B,Pascucci T,Puglisi-Allegra S,Reichelt KL,Persico AM

更新日期：2007-03-08 00:00:00

abstract：BACKGROUND:Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our s...

journal_title：BMC medical genetics

authors： Mayans S,Lackovic K,Nyholm C,Lindgren P,Ruikka K,Eliasson M,Cilio CM,Holmberg D

更新日期：2007-02-06 00:00:00

abstract：BACKGROUND:A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Indian women. We investigated the distribution and the nature of BRCA1 and BRCA2 germline mutations and po...

journal_title：BMC medical genetics

authors： Saxena S,Chakraborty A,Kaushal M,Kotwal S,Bhatanager D,Mohil RS,Chintamani C,Aggarwal AK,Sharma VK,Sharma PC,Lenoir G,Goldgar DE,Szabo CI

更新日期：2006-10-04 00:00:00

abstract：BACKGROUND:Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mut...

journal_title：BMC medical genetics

authors： Thakur N,Reddy DN,Rao GV,Mohankrishna P,Singh L,Chandak GR

更新日期：2006-09-30 00:00:00

abstract：BACKGROUND:Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome ...

journal_title：BMC medical genetics

authors： Li JL,Hayden MR,Warby SC,Durr A,Morrison PJ,Nance M,Ross CA,Margolis RL,Rosenblatt A,Squitieri F,Frati L,Gómez-Tortosa E,García CA,Suchowersky O,Klimek ML,Trent RJ,McCusker E,Novelletto A,Frontali M,Paulsen JS,Jon

更新日期：2006-08-17 00:00:00

abstract：BACKGROUND:Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primari...

journal_title：BMC medical genetics

authors： Mayeur H,Roche O,Vêtu C,Jaliffa C,Marchant D,Dollfus H,Bonneau D,Munier FL,Schorderet DF,Levin AV,Héon E,Sutherland J,Lacombe D,Said E,Mezer E,Kaplan J,Dufier JL,Marsac C,Menasche M,Abitbol M

更新日期：2006-04-28 00:00:00

abstract：BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...

journal_title：BMC medical genetics

authors： Gamundi MJ,Hernan I,Martínez-Gimeno M,Maseras M,García-Sandoval B,Ayuso C,Antiñolo G,Baiget M,Carballo M

更新日期：2006-04-05 00:00:00

abstract：BACKGROUND:Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION:A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, ...

journal_title：BMC medical genetics

authors： Brooks BP,Meck JM,Haddad BR,Bendavid C,Blain D,Toretsky JA

更新日期：2006-01-13 00:00:00

abstract：BACKGROUND:Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein comple...

journal_title：BMC medical genetics

authors： Bayley JP,van Minderhout I,Weiss MM,Jansen JC,Oomen PH,Menko FH,Pasini B,Ferrando B,Wong N,Alpert LC,Williams R,Blair E,Devilee P,Taschner PE

更新日期：2006-01-11 00:00:00

abstract：BACKGROUND:It is generally accepted that genetic factors play a role in susceptibility to both leprosy per se and leprosy type, but only few studies have tempted to quantify this. Estimating the contribution of genetic factors to clustering of leprosy within families is difficult since these persons often share the sam...

journal_title：BMC medical genetics

authors： Bakker MI,May L,Hatta M,Kwenang A,Klatser PR,Oskam L,Houwing-Duistermaat JJ

更新日期：2005-11-24 00:00:00

abstract：BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...

journal_title：BMC medical genetics

authors： Schnakenberg E,Mehles A,Cario G,Rehe K,Seidemann K,Schlegelberger B,Elsner HA,Welte KH,Schrappe M,Stanulla M

更新日期：2005-05-27 00:00:00

abstract：BACKGROUND:The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms and antidepressant response in mood disorders. However the combined analysis of multiple gene polymor...

journal_title：BMC medical genetics

authors： Serretti A,Smeraldi E

更新日期：2004-12-09 00:00:00

abstract：BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

journal_title：BMC medical genetics

authors： Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

更新日期：2004-10-21 00:00:00

abstract：BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...

journal_title：BMC medical genetics

authors： Pickard BS,Hollox EJ,Malloy MP,Porteous DJ,Blackwood DH,Armour JA,Muir WJ

更新日期：2004-08-13 00:00:00

abstract：BACKGROUND:Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR). HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in ...

journal_title：BMC medical genetics

authors： Kunstmann E,Vieland J,Brasch FE,Hahn SA,Epplen JT,Schulmann K,Schmiegel W

更新日期：2004-06-24 00:00:00

abstract：BACKGROUND:The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The ...

journal_title：BMC medical genetics

authors： Adams GT,Snieder H,McKie VC,Clair B,Brambilla D,Adams RJ,Kutlar F,Kutlar A

更新日期：2003-07-18 00:00:00

abstract：BACKGROUND:Fabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestation...

journal_title：BMC medical genetics

authors： Germain DP,Avan P,Chassaing A,Bonfils P

更新日期：2002-10-11 00:00:00

abstract：BACKGROUND:Although vitamin D receptor (VDR) polymorphisms have been shown to be associated with abnormal glucose metabolism, the reported polymorphisms are unlikely to have any biological consequences. The VDR gene has two potential translation initiation sites. A T-to-C polymorphism has been noted in the first ATG (f...

journal_title：BMC medical genetics

authors： Chiu KC,Chuang LM,Yoon C

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:Celiac disease has a strong genetic association with HLA. However, this association only explains approximately half of the sibling risk for celiac disease. Therefore, other genes must be involved in susceptibility to celiac disease. We tested for linkage to genes or loci that could play a role in pathogenes...

journal_title：BMC medical genetics

authors： Neuhausen SL,Feolo M,Farnham J,Book L,Zone JJ

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:Vitamin D has been shown to exert manifold immunomodulatory effects. Type 1 diabetes mellitus (T1DM) is regarded to be immune-mediated and vitamin D prevents the development of diabetes in the NOD mouse. We studied the association between T1DM and the initiation codon polymorphism in exon 2 of the vitamin D ...

journal_title：BMC medical genetics

authors： Ban Y,Taniyama M,Yanagawa T,Yamada S,Maruyama T,Kasuga A,Ban Y

更新日期：2001-01-01 00:00:00