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  1. Content type: Research article

    Fragility fractures caused by osteoporosis are a major cause of morbidity and mortality in aging populations. Bone mineral density (BMD) is a useful surrogate marker for risk of fracture and is a highly herita...

    Authors: Richard H Reneland, Steven Mah, Stefan Kammerer, Carolyn R Hoyal, George Marnellos, Scott G Wilson, Philip N Sambrook, Tim D Spector, Matthew R Nelson and Andreas Braun

    Citation: BMC Medical Genetics 2005 6:9

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  2. Content type: Research article

    CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could ...

    Authors: Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino, Laura M Molinari, Nancy L Glass, Jeffrey A Towbin, William J Craigen and John W Belmont

    Citation: BMC Medical Genetics 2005 6:8

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  3. Content type: Research article

    Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor g...

    Authors: Faina M Zakharova, Dorte Damgaard, Michail Y Mandelshtam, Valery I Golubkov, Peter H Nissen, Gitte G Nilsen, Anette Stenderup, Boris M Lipovetsky, Vladimir O Konstantinov, Alexander D Denisenko, Vadim B Vasilyev and Ole Faergeman

    Citation: BMC Medical Genetics 2005 6:6

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  4. Content type: Case report

    Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene...

    Authors: Joaquim Calado, Augusta Gaspar, Carla Clemente and José Rueff

    Citation: BMC Medical Genetics 2005 6:5

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  5. Content type: Research article

    Rare mutations of the epithelial sodium channel (ENaC) result in the monogenic hypertension form of Liddle's syndrome. We decided to screen for common variants in the ENaC βand γ subunits in patients with esse...

    Authors: Tuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, Tuula Tikkanen, Frej Fyhrquist, Karri Helin, Heidi Fodstad, Kirsi Piippo, Helena E Miettinen, Jarmo Virtamo, Tom Krusius, Seppo Sarna, Ivan Gautschi, Laurent Schild and Timo P Hiltunen

    Citation: BMC Medical Genetics 2005 6:4

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  6. Content type: Technical advance

    Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment. In this study, we sought to establish the use o...

    Authors: Philip H Schwartz, Flora Tassone, Claudia M Greco, Hubert E Nethercott, Boback Ziaeian, Randi J Hagerman and Paul J Hagerman

    Citation: BMC Medical Genetics 2005 6:2

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  7. Content type: Research article

    Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development of language and social relationships and patterns of repetitive, rigid and compulsive behaviors. Twin and family ...

    Authors: Jacob L McCauley, Chun Li, Lan Jiang, Lana M Olson, Genea Crockett, Kimberly Gainer, Susan E Folstein, Jonathan L Haines and James S Sutcliffe

    Citation: BMC Medical Genetics 2005 6:1

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  8. Content type: Research article

    An association has been observed between the catechol-O-methyltransferase (COMT) gene, the predominant means of catecholamine catabolism within the prefrontal cortex (PFC), and neuropsychological task performance...

    Authors: Evan Taerk, Natalie Grizenko, Leila Ben Amor, Philippe Lageix, Valentin Mbekou, Rosherie Deguzman, Adam Torkaman-Zehi, Marina Ter Stepanian, Chantal Baron and Ridha Joober

    Citation: BMC Medical Genetics 2004 5:30

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  9. Content type: Research article

    Homozygosity or compound heterozygosity for coding region mutations of the hemojuvelin gene (HJV) in whites is a cause of early age-of-onset iron overload (juvenile hemochromatosis), and of hemochromatosis phenot...

    Authors: James C Barton, Charles A Rivers, Sandrine Niyongere, Sean B Bohannon and Ronald T Acton

    Citation: BMC Medical Genetics 2004 5:29

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  10. Content type: Research article

    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 a...

    Authors: Alessandro Serretti and Enrico Smeraldi

    Citation: BMC Medical Genetics 2004 5:27

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  11. Content type: Research article

    Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. ...

    Authors: Carol J Blaisdell, Timothy D Howard, Augustus Stern, Penelope Bamford, Eugene R Bleecker and O Colin Stine

    Citation: BMC Medical Genetics 2004 5:26

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  12. Content type: Research article

    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

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  13. Content type: Research article

    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

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  14. Content type: Study protocol

    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

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  15. Content type: Research article

    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

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  16. Content type: Research article

    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

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  17. Content type: Research article

    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

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  18. Content type: Research article

    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

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  19. Content type: Research article

    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

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  20. Content type: Research article

    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

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  21. Content type: Research article

    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

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  22. Content type: Research article

    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

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  23. Content type: Research article

    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

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  24. Content type: Research article

    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

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  25. Content type: Case report

    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

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  26. Content type: Research article

    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

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  27. Content type: Technical advance

    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

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  28. Content type: Research article

    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

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  29. Content type: Research article

    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

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  30. Content type: Research article

    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

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  31. Content type: Research article

    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

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  32. Content type: Research article

    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

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  33. Content type: Research article

    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

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  34. Content type: Case report

    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

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  35. Content type: Case report

    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

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  36. Content type: Research article

    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

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  37. Content type: Research article

    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

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  38. Content type: Study protocol

    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

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  39. Content type: Research article

    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

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  40. Content type: Research article

    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

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  41. Content type: Research article

    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

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  42. Content type: Research article

    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

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  43. Content type: Research article

    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

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  44. Content type: Research article

    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

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