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  1. 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...

    Authors: Arantza Pacho, Esther Mancebo, Manuel J del Rey, Maria J Castro, Desamparados Oliver, Miguel García-Berciano, Luis González and Pablo Morales

    Citation: BMC Medical Genetics 2004 5:25

    Content type: Research article

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  2. Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In ...

    Authors: Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell…

    Citation: BMC Medical Genetics 2004 5:24

    Content type: Research article

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  3. The Angiotensin Converting Enzyme (ACE) insertion/deletion (I/D) polymorphism has received much attention in pharmacogenetic research because observed variations in response to ACE inhibitors might be associat...

    Authors: M Scharplatz, MA Puhan, J Steurer and LM Bachmann

    Citation: BMC Medical Genetics 2004 5:23

    Content type: Study protocol

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  4. The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the sh...

    Authors: Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz and Daniel Christophe

    Citation: BMC Medical Genetics 2004 5:22

    Content type: Research article

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  5. 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 term...

    Authors: Ben S Pickard, Edward J Hollox, M Pat Malloy, David J Porteous, Douglas HR Blackwood, John AL Armour and Walter J Muir

    Citation: BMC Medical Genetics 2004 5:21

    Content type: Research article

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  6. To determine whether previously reported loci predisposing to nonsyndromic high myopia show linkage to common myopia in pedigrees from two ethnic groups: Ashkenazi Jewish and Amish. We hypothesized that these ...

    Authors: Grace Ibay, Betty Doan, Lauren Reider, Debra Dana, Melissa Schlifka, Heping Hu, Taura Holmes, Jennifer O'Neill, Robert Owens, Elise Ciner, Joan E Bailey–Wilson and Dwight Stambolian

    Citation: BMC Medical Genetics 2004 5:20

    Content type: Research article

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  7. To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as neutral variations.

    Authors: Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, Carine Templin, Françoise Chevalier-Porst and Marie Des Georges

    Citation: BMC Medical Genetics 2004 5:19

    Content type: Research article

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  8. Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome pa...

    Authors: Douglas B Gould, Mohamad S Jaafar, Mark K Addison, Francis Munier, Robert Ritch, Ian M MacDonald and Michael A Walter

    Citation: BMC Medical Genetics 2004 5:17

    Content type: Research article

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  9. 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...

    Authors: Erdmute Kunstmann, Judith Vieland, Frank E Brasch, Stephan A Hahn, Joerg T Epplen, Karsten Schulmann and Wolff Schmiegel

    Citation: BMC Medical Genetics 2004 5:16

    Content type: Research article

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  10. Clefts of the lip, alveolus, and palate (CLPs) rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in t...

    Authors: Christian Stoll, Senait Mengsteab, Doris Stoll, Dieter Riediger, Axel M Gressner and Ralf Weiskirchen

    Citation: BMC Medical Genetics 2004 5:15

    Content type: Research article

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  11. The p73 protein, a paralogue of the p53 tumor suppressor, is essential for normal development and survival of neurons. TP73 is therefore of interest as a candidate gene for Alzheimer's disease (AD) susceptibility...

    Authors: Quanyi Li, Eleni S Athan, Michelle Wei, Eric Yuan, Samuel L Rice, Jean-Paul Vonsattel, Richard P Mayeux and Benjamin Tycko

    Citation: BMC Medical Genetics 2004 5:14

    Content type: Research article

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  12. Elevated white blood cell counts (WBC) in acute coronary syndromes (ACS) increase the risk of recurrent events, but it is not known if this is exacerbated by pro-inflammatory factors. We sought to identify whe...

    Authors: Connie E Byrne, Anthony Fitzgerald, Christopher P Cannon, Desmond J Fitzgerald and Denis C Shields

    Citation: BMC Medical Genetics 2004 5:13

    Content type: Research article

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  13. A substantial body of research supports a genetic involvement in autism. Furthermore, results from various genomic screens implicate a region on chromosome 7q31 as harboring an autism susceptibility variant. W...

    Authors: Holli B Hutcheson, Lana M Olson, Yuki Bradford, Susan E Folstein, Susan L Santangelo, James S Sutcliffe and Jonathan L Haines

    Citation: BMC Medical Genetics 2004 5:12

    Content type: Research article

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  14. Autism is a pervasive developmental disorder characterized by a triad of deficits: qualitative impairments in social interactions, communication deficits, and repetitive and stereotyped patterns of behavior. A...

    Authors: Subhadra Ramanathan, Abigail Woodroffe, Pamela L Flodman, Lee Z Mays, Mona Hanouni, Charlotte B Modahl, Robin Steinberg-Epstein, Maureen E Bocian, M Anne Spence and Moyra Smith

    Citation: BMC Medical Genetics 2004 5:10

    Content type: Case report

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  15. Mutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south I...

    Authors: Guruswamy Neethirajan, Subbaiah Ramasamy Krishnadas, Perumalsamy Vijayalakshmi, Shetty Shashikant and Periasamy Sundaresan

    Citation: BMC Medical Genetics 2004 5:9

    Content type: Research article

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  16. Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes...

    Authors: Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone, Vincenzina Lucidi, Federica Sangiuolo and Giuseppe Novelli

    Citation: BMC Medical Genetics 2004 5:8

    Content type: Technical advance

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  17. Huntington's disease (HD) is a fully penetrant, autosomal dominantly inherited disorder associated with abnormal expansions of a stretch of perfect CAG repeats in the 5' part of the IT15 gene. The number of repea...

    Authors: Larissa Arning, Peter Jagiello, Stefan Wieczorek, Carsten Saft, Jürgen Andrich and Jörg T Epplen

    Citation: BMC Medical Genetics 2004 5:7

    Content type: Research article

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  18. Alzheimer's disease is multifactorial, having environmental, toxicological and genetic risk factors. Impaired folate and homocysteine metabolism has been hypothesised to increase risk. In addition to its xenob...

    Authors: Nichola Johnson, Peter Bell, Vesna Jonovska, Marc Budge and Edith Sim

    Citation: BMC Medical Genetics 2004 5:6

    Content type: Research article

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  19. Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the as...

    Authors: Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain and Mireille Claustres

    Citation: BMC Medical Genetics 2004 5:5

    Content type: Research article

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  20. Familial mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent crises of fever, abdominal, articular and/or thoracic pain. The most severe complication is the development of r...

    Authors: Myrna Medlej-Hashim, Valérie Delague, Eliane Chouery, Nabiha Salem, Mohammed Rawashdeh, Gérard Lefranc, Jacques Loiselet and André Mégarbané

    Citation: BMC Medical Genetics 2004 5:4

    Content type: Research article

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  21. In studies on the genetics of human aging, we observed an age-related variation of the 3'APOB-VNTR genotypic pool (alleles: Short, S, <35 repeats; Medium, M, 35–39 repeats; Long, L, >39 repeats) with the homozygo...

    Authors: Sabrina Garasto, Maurizio Berardelli, Francesco DeRango, Vincenzo Mari, Emidio Feraco and Giovanna De Benedictis

    Citation: BMC Medical Genetics 2004 5:3

    Content type: Research article

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  22. We have previously developed a long RT-PCR method for selective amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 an...

    Authors: Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, Chintana Sirinavin, Duangkamon Bunditworapoom, Nanyawan Rungroj and Pa-thai Yenchitsomanus

    Citation: BMC Medical Genetics 2004 5:2

    Content type: Research article

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  23. Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedem...

    Authors: Heidi A Heilstedt and Carlos A Bacino

    Citation: BMC Medical Genetics 2004 5:1

    Content type: Case report

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  24. The human leukocyte antigen (HLA) system is widely used as a strategy in the search for the etiology of infectious diseases and autoimmune disorders. During the Taiwan epidemic of severe acute respiratory synd...

    Authors: Marie Lin, Hsiang-Kuang Tseng, Jean A Trejaut, Hui-Lin Lee, Jun-Hun Loo, Chen-Chung Chu, Pei-Jan Chen, Ying-Wen Su, Ken Hong Lim, Zen-Uong Tsai, Ruey-Yi Lin, Ruey-Shiung Lin and Chun-Hsiung Huang

    Citation: BMC Medical Genetics 2003 4:9

    Content type: Case report

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  25. Current evidence demonstrates that positive family history and several alterations in lipid metabolism are all important risk factors for coronary artery disease (CAD). All lipid abnormalities themselves have ...

    Authors: Marco G Baroni, Andrea Berni, Stefano Romeo, Marcello Arca, Tullio Tesorio, Giovanni Sorropago, Umberto Di Mario and David J Galton

    Citation: BMC Medical Genetics 2003 4:8

    Content type: Research article

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  26. Relatives of BRCA1 and BRCA2 mutation carriers have long been proposed by epidemiological studies to have an increased risk of developing prostate cancer. In the Ashkenazi Jewish (AJ) population, the existence of...

    Authors: Nancy Hamel, Kimberley Kotar and William D Foulkes

    Citation: BMC Medical Genetics 2003 4:7

    Content type: Research article

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  27. 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...

    Authors: Gaye T Adams, Harold Snieder, Virgil C McKie, Betsy Clair, Donald Brambilla, Robert J Adams, Ferdane Kutlar and Abdullah Kutlar

    Citation: BMC Medical Genetics 2003 4:6

    Content type: Study protocol

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  28. PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene. Dipeptidyl-peptidase I encoded by ...

    Authors: Veeriah Selvaraju, Manjunath Markandaya, Pullabatla Venkata Siva Prasad, Parthasarathy Sathyan, Gomathy Sethuraman, Satish Chandra Srivastava, Nalin Thakker and Arun Kumar

    Citation: BMC Medical Genetics 2003 4:5

    Content type: Research article

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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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

  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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