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  1. Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, ...

    Authors: Heather M MacLeod, Mary R Culley, Jill M Huber and Elizabeth M McNally

    Citation: BMC Medical Genetics 2003 4:4

    Content type: Research article

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  2. We wanted to quantify HLA-A and -B phenotype and haplotype frequencies in Alabama index patients with common variable immunodeficiency (CVID) and selective IgG subclass deficiency (IgGSD), and in control subje...

    Authors: James C Barton, Luigi F Bertoli and Ronald T Acton

    Citation: BMC Medical Genetics 2003 4:3

    Content type: Research article

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  3. Doherty and Zinkernagel, who discovered that antigen presentation is restricted by the major histocompatibility complex (MHC, called HLA in humans), hypothesized that individuals heterozygous at particular MHC...

    Authors: Marc Lipsitch, Carl T Bergstrom and Rustom Antia

    Citation: BMC Medical Genetics 2003 4:2

    Content type: Research article

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  4. The 1100delC CHEK2 allele has been associated with a 1.4–4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1–1.4% in healthy Finnish controls, the fr...

    Authors: Kenneth Offit, Heather Pierce, Tomas Kirchhoff, Prema Kolachana, Beth Rapaport, Peter Gregersen, Steven Johnson, Orit Yossepowitch, Helen Huang, Jaya Satagopan, Mark Robson, Lauren Scheuer, Khedoudja Nafa and Nathan Ellis

    Citation: BMC Medical Genetics 2003 4:1

    Content type: Research article

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  5. Females with the neurological disorder Rett syndrome are heterozygous for mutations in X-linked MECP2 that encodes methyl-CpG binding protein 2 (MeCP2) thought to act as a transcriptional repressor. To identif...

    Authors: Jeff Traynor, Priyanka Agarwal, Laura Lazzeroni and Uta Francke

    Citation: BMC Medical Genetics 2002 3:12

    Content type: Research article

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  6. 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...

    Authors: Dominique P Germain, Paul Avan, Augustin Chassaing and Pierre Bonfils

    Citation: BMC Medical Genetics 2002 3:10

    Content type: Research article

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    The Erratum to this article has been published in BMC Medical Genetics 2004 5:11

  7. SFHR (small fragment homologous replacement)-mediated targeting is a process that has been used to correct specific mutations in mammalian cells. This process involves both chemical and cellular factors that a...

    Authors: Federica Sangiuolo, Emanuela Bruscia, Annalucia Serafino, Anna Maria Nardone, Emanuela Bonifazi, Monica Lais, Dieter C Gruenert and Giuseppe Novelli

    Citation: BMC Medical Genetics 2002 3:8

    Content type: Research article

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  8. Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence...

    Authors: Jane M Olson, Sompong Vongpunsawad, Helena Kuivaniemi, Antti Ronkainen, Juha Hernesniemi, Markku Ryynänen, Lee-Lian Kim and Gerard Tromp

    Citation: BMC Medical Genetics 2002 3:7

    Content type: Research article

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  9. Single-nucleotide polymorphisms (SNPs) are considered to be useful polymorphic markers for genetic studies of polygenic traits. Single-stranded conformational polymorphism (SSCP) analysis has been widely appli...

    Authors: Teruaki Tozaki, Nam-Ho Choi-Miura, Matsuo Taniyama, Masahiko Kurosawa and Motowo Tomita

    Citation: BMC Medical Genetics 2002 3:6

    Content type: Research article

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  10. Multinodular goitre (MNG) is a common disorder characterised by an enlargement of the thyroid, occurring as a compensatory response to hormonogenesis impairment. The incidence of MNG is dependent on sex (femal...

    Authors: Emiliano Giardina, Francesca Capon, M Rosaria D'Apice, Francesca Amati, Franco Arturi, Sebastiano Filetti, Emanuela Bonifazi, Sabina Pucci, Chiara Conte and Giuseppe Novelli

    Citation: BMC Medical Genetics 2002 3:5

    Content type: Research article

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  11. Multiple endocrine neoplasias type 2A (MEN 2A) is a dominantly inherited cancer syndrome. Missence mutations in the codon encoding cysteine 634 of the ret proto-oncogene have been found in 85% of the MEN 2A famil...

    Authors: María Roqué, Eduardo Pusiol, Héctor Perinetti, Clara Pott Godoy and Luis S Mayorga

    Citation: BMC Medical Genetics 2002 3:4

    Content type: Research article

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  12. Since contradictory results have been reported, we reanalysed the 77C→G transition in exon 4 of the protein-tyrosine phosphatase receptor-type C (PTPRC also known as CD45) in a large cohort of German MS patients ...

    Authors: Bianca Miterski, Eckhart Sindern, Michael Haupts, Sebastian Schimrigk and Joerg T Epplen

    Citation: BMC Medical Genetics 2002 3:3

    Content type: Research article

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  13. Abnormal collagen metabolism is thought to play an important role in the development of primary inguinal hernia. This is underlined by detection of altered collagen metabolism and structural changes of the tis...

    Authors: Raphael Rosch, Uwe Klinge, Zhongyi Si, Karsten Junge, Bernd Klosterhalfen and Volker Schumpelick

    Citation: BMC Medical Genetics 2002 3:2

    Content type: Research article

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  14. Family history and twins studies suggest an inherited component to ischemic stroke risk. Candidate gene association studies have been performed but have limited capacity to identify novel risk factor genes. Th...

    Authors: James F Meschia, Robert D Brown Jr, Thomas G Brott, Felix E Chukwudelunzu, John Hardy and Stephen S Rich

    Citation: BMC Medical Genetics 2002 3:1

    Content type: Study protocol

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  15. 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 susceptib...

    Authors: Susan L Neuhausen, Michael Feolo, James Farnham, Linda Book and John J Zone

    Citation: BMC Medical Genetics 2001 2:12

    Content type: Research article

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  16. Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene in...

    Authors: Wanguo Liu, Iris Schrijver, Thomas Brenn, Heinz Furthmayr and Uta Francke

    Citation: BMC Medical Genetics 2001 2:11

    Content type: Research article

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  17. Tumor Necrosis Factor-α (TNF-α) has been implicated in the pathogenesis of insulin resistance and obesity. The increased expression of TNF-α in adipose tissue has been shown to induce insulin resistance, and a...

    Authors: Stefano Romeo, Federica Sentinelli, Francesca Capici, Marcello Arca, Andrea Berni, Elio Vecci, Umberto Di Mario and Marco Giorgio Baroni

    Citation: BMC Medical Genetics 2001 2:10

    Content type: Research article

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  18. Narcolepsy is a common neuropsychiatric disorder characterized by increased daytime sleepiness, cataplexy and hypnagogic hallucinations. Deficiency of the hypocretin neurotransmitter system was shown to be inv...

    Authors: Martin Gencik, Norbert Dahmen, Stefan Wieczorek, Meike Kasten, Alexandra Gencikova and Jorg T Epplen

    Citation: BMC Medical Genetics 2001 2:9

    Content type: Research article

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  19. The gene encoding apolipoprotein E (APOE) has been proposed as a candidate gene for vascular complications in Type I diabetes. This study aimed to investigate the influence of three-allelic variations in the APOE

    Authors: Natalia S Shcherbak

    Citation: BMC Medical Genetics 2001 2:8

    Content type: Research article

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  20. 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 st...

    Authors: Yoshiyuki Ban, Matsuo Taniyama, Tatsuo Yanagawa, Satoru Yamada, Taro Maruyama, Akira Kasuga and Yoshio Ban

    Citation: BMC Medical Genetics 2001 2:7

    Content type: Research article

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  21. Interleukin 6 (IL-6) is thought to play important roles in the development of reactive thrombocytosis caused by inflammation by its stimulatory effect on megakaryocytopoiesis. A G/C polymorphism of the IL-6 ge...

    Authors: José-Manuel Fernandez-Real, Joan Vendrell, Cristobal Richart, Cristina Gutierrez and Wifredo Ricart

    Citation: BMC Medical Genetics 2001 2:6

    Content type: Research article

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  22. Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder popul...

    Authors: Luba Kalaydjieva, David Gresham and Francesc Calafell

    Citation: BMC Medical Genetics 2001 2:5

    Content type: Review

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  23. Oxidative stress, resulting in a marked increase in the level of oxygen free radicals (OFR), has been implicated in the etiology of diabetic neuropathy (DN). Antioxidant enzymes may protect against the rapid o...

    Authors: Dimitry A Chistyakov, Kirill V Savost'anov, Elena V Zotova and Valery V Nosikov

    Citation: BMC Medical Genetics 2001 2:4

    Content type: Research article

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  24. 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 ...

    Authors: Ken C Chiu, Lee-Ming Chuang and Carol Yoon

    Citation: BMC Medical Genetics 2001 2:2

    Content type: Research article

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  25. The autoimmune thyroid diseases (AITDs), such as Graves' disease (GD) and Hashimoto's thyroiditis (HT), appear to develop as a result of complex interactions between predisposing genes and environmental trigge...

    Authors: Yoshiyuki Ban, Teruaki Tozaki, Matsuo Taniyama, Motowo Tomita and Yoshio Ban

    Citation: BMC Medical Genetics 2001 2:1

    Content type: Case control study

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  26. The autoimmune thyroid diseases (AITDs), comprising Graves' disease (GD) and Hashimoto's thyroiditis (HT), appear to develop as a result of complex interactions between predisposing genes and environmental tri...

    Authors: Yoshiyuki Ban, Matsuo Taniyama, Teruaki Tozaki, Motowo Tomita and Yoshio Ban

    Citation: BMC Medical Genetics 2000 1:1

    Content type: Case control study

    Published on: