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  1. Content type: Research article

    Elevated resting heart rate has been shown in multiple studies to be a strong predictor of cardiovascular disease. Previous family studies have shown a significant heritable component to heart rate with severa...

    Authors: Jason M Laramie, Jemma B Wilk, Steven C Hunt, R Curtis Ellison, Aravinda Chakravarti, Eric Boerwinkle and Richard H Myers

    Citation: BMC Medical Genetics 2006 7:17

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  2. Content type: Research article

    It has been recently demonstrated that CD8+ T-lymphocyte numbers are genetically transmitted in association with the MHC class I region. The present study was designed with the objective of narrowing the regio...

    Authors: Eugénia Cruz, Jorge Vieira, Susana Almeida, Rosa Lacerda, Andrea Gartner, Carla S Cardoso, Helena Alves and Graça Porto

    Citation: BMC Medical Genetics 2006 7:16

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  3. Content type: Research article

    Individuals belonging to the same family share a number of genetic as well as environmental circumstances that may condition a common SBP level. Among the genetic factors, the angiotensin converting enzyme (AC...

    Authors: Juan Merlo, Kristina Bengtsson-Boström, Ulf Lindblad, Lennart Råstam and Olle Melander

    Citation: BMC Medical Genetics 2006 7:14

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  4. Content type: Research article

    Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia....

    Authors: Bhaswati Pandit, Gwang-Sook Ahn, Starr E Hazard, Derek Gordon and Shailendra B Patel

    Citation: BMC Medical Genetics 2006 7:13

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  5. Content type: Research article

    We have previously reported an association between the estrogen receptor 1 (ESR1) gene exon 8 G594A polymorphism and migraine susceptibility in two independent Australian cohorts. In this paper we report resul...

    Authors: Natalie J Colson, Rod A Lea, Sharon Quinlan and Lyn R Griffiths

    Citation: BMC Medical Genetics 2006 7:12

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  6. Content type: Research article

    Since genetic alterations influencing susceptibility to multiple sclerosis (MS), the most common autoimmune demyelinating disease of the central nervous system (CNS), are as yet poorly understood, the purpose ...

    Authors: Silja Särkijärvi, Hanna Kuusisto, Raija Paalavuo, Mari Levula, Nina Airla, Terho Lehtimäki, Jaakko Kaprio, Markku Koskenvuo and Irina Elovaara

    Citation: BMC Medical Genetics 2006 7:11

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  7. Content type: Research article

    The COMT gene is located on chromosome 22q11, a region strongly implicated in the aetiology of several psychiatric disorders, in particular schizophrenia. Previous research has suggested that activity and express...

    Authors: Emma L Dempster, Jonathan Mill, Ian W Craig and David A Collier

    Citation: BMC Medical Genetics 2006 7:10

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  8. Content type: Case report

    Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have co...

    Authors: Seema R Lalani, Trilochan Sahoo, Merideth E Sanders, Sarika U Peters and Bassem A Bejjani

    Citation: BMC Medical Genetics 2006 7:8

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  9. Content type: Research article

    Among the members of the ATP binding cassette transporter superfamily, MRPs share the closest homology with the CFTR protein, which is defective in CF disease. MRP1 has been proposed as a potential modifier gene ...

    Authors: Elena Nicolis, Matteo Pasetto, Cristina Cigana, Ugo Pradal, Baroukh M Assael and Paola Melotti

    Citation: BMC Medical Genetics 2006 7:7

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  10. Content type: Research article

    Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of suffic...

    Authors: Katja Vouk, Lana Strmecki, Jitka Stekrova, Jana Reiterova, Matjaz Bidovec, Petra Hudler, Anton Kenig, Simona Jereb, Irena Zupanic-Pajnic, Joze Balazic, Guido Haarpaintner, Bostjan Leskovar, Anton Adamlje, Antun Skoflic, Reina Dovc, Radovan Hojs…

    Citation: BMC Medical Genetics 2006 7:6

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  11. Content type: Research article

    Hereditary non-polyposis colon cancer (HNPCC) is an autosomal dominant syndrome predisposing to the early development of various cancers including those of colon, rectum, endometrium, ovarium, small bowel, sto...

    Authors: Sergio G Chialina, Claudia Fornes, Carolina Landi, Carlos D de La Vega Elena, Maria V Nicolorich, Ricardo J Dourisboure, Angela Solano and Edita A Solis

    Citation: BMC Medical Genetics 2006 7:5

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  12. Content type: Research article

    Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-γ. Both domina...

    Authors: Gordon A Francis, Gang Li, Robin Casey, Jian Wang, Henian Cao, Todd Leff and Robert A Hegele

    Citation: BMC Medical Genetics 2006 7:3

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  13. Content type: Case report

    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.

    Authors: Brian P Brooks, Jeanne M Meck, Bassem R Haddad, Claude Bendavid, Delphine Blain and Jeffrey A Toretsky

    Citation: BMC Medical Genetics 2006 7:2

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  14. Content type: Research article

    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 the...

    Authors: Jean-Pierre Bayley, Ivonne van Minderhout, Marjan M Weiss, Jeroen C Jansen, Peter HN Oomen, Fred H Menko, Barbara Pasini, Barbara Ferrando, Nora Wong, Lesley C Alpert, Rosie Williams, Edward Blair, Peter Devilee and Peter EM Taschner

    Citation: BMC Medical Genetics 2006 7:1

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  15. Content type: Research article

    The use of live microorganisms to influence positively the course of intestinal disorders such as infectious diarrhea or chronic inflammatory conditions has recently gained increasing interest as a therapeutic...

    Authors: Sya N Ukena, Astrid M Westendorf, Wiebke Hansen, Manfred Rohde, Robert Geffers, Sina Coldewey, Sebastian Suerbaum, Jan Buer and Florian Gunzer

    Citation: BMC Medical Genetics 2005 6:43

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  16. Content type: Research article

    GLUT10 (gene symbol SLC2A10) is a facilitative glucose transporter within the type 2 diabetes (T2DM)-linked region on chromosome 20q12-13.1. Therefore, we evaluated GLUT10 as a positional candidate gene for T2...

    Authors: Jennifer L Bento, Donald W Bowden, Josyf C Mychaleckyj, Shohei Hirakawa, Stephen S Rich, Barry I Freedman and Fernando Segade

    Citation: BMC Medical Genetics 2005 6:42

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  17. Content type: Research article

    The recessive disorder trimethylaminuria is caused by defects in the FMO3 gene, and may be associated with hypertension. We investigated whether common polymorphisms of the FMO3 gene confer an increased risk for ...

    Authors: Ciara Dolan, Denis C Shields, Alice Stanton, Eoin O'Brien, Deborah M Lambert, John K O'Brien and Eileen P Treacy

    Citation: BMC Medical Genetics 2005 6:41

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  18. Content type: Research article

    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 fact...

    Authors: Mirjam I Bakker, Linda May, Mochammad Hatta, Agnes Kwenang, Paul R Klatser, Linda Oskam and Jeanine J Houwing-Duistermaat

    Citation: BMC Medical Genetics 2005 6:40

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  19. Content type: Database

    The SDHA, SDHB, SDHC and SDHD genes encode the subunits of succinate dehydrogenase (succinate: ubiquinone oxidoreductase), a component of both the Krebs cycle and the mitochondrial respiratory chain. SDHA, a f...

    Authors: Jean-Pierre Bayley, Peter Devilee and Peter EM Taschner

    Citation: BMC Medical Genetics 2005 6:39

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  20. Content type: Research article

    Vascular disease is a feature of aging, and coronary vascular events are a major source of morbidity and mortality in rare premature aging syndromes. One such syndrome is caused by mutations in the lamin A/C (LMN...

    Authors: Adrian F Low, Christopher J O'Donnell, Sekar Kathiresan, Brendan Everett, Claudia U Chae, Stanley Y Shaw, Patrick T Ellinor and Calum A MacRae

    Citation: BMC Medical Genetics 2005 6:38

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  21. Content type: Research article

    Defective insulin secretion is a key defect in the pathogenesis of type 2 diabetes (T2DM). The β-cell specific transcription factor, insulin promoter factor 1 gene (IPF1), is essential to pancreatic development a...

    Authors: Mohammad A Karim, Xiaoqin Wang, Terri C Hale and Steven C Elbein

    Citation: BMC Medical Genetics 2005 6:37

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  22. Content type: Technical advance

    The minor histocompatibility antigens (mHags) are self-peptides derived from common cellular proteins and presented by MHC class I and II molecules. Disparities in mHags are a potential risk for the developmen...

    Authors: Claudio Graziano, Massimo Giorgi, Cecilia Malentacchi, Pier Luigi Mattiuz and Berardino Porfirio

    Citation: BMC Medical Genetics 2005 6:36

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  23. Content type: Research article

    TP53 is an attractive candidate for modifying age of onset (AO) in Huntington disease (HD): The amino-terminus of the mutated huntingtin (htt) exon 1 translation product has functional properties which may affec...

    Authors: Larissa Arning, Peter H Kraus, Carsten Saft, Jürgen Andrich and Jörg T Epplen

    Citation: BMC Medical Genetics 2005 6:35

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  24. Content type: Research article

    For allergic disorders, the increasing prevalence over the past decade has been attributed in part to the lack of microbial burden in developed countries ('hygiene hypothesis'). Variation in genes encoding tol...

    Authors: Sabine Hoffjan, Susanne Stemmler, Qumar Parwez, Elisabeth Petrasch-Parwez, Umut Arinir, Gernot Rohde, Karin Reinitz-Rademacher, Gerhard Schultze-Werninghaus, Albrecht Bufe and Jörg T Epplen

    Citation: BMC Medical Genetics 2005 6:34

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  25. Content type: Research article

    Mitotic configurations consistent in split centromeres and splayed chromatids in all or most of the chromosomes or premature centromere division (PCD) have been described in three categories. (1) Low frequency...

    Authors: Alfredo Corona-Rivera, Fabio Salamanca-Gomez, Lucina Bobadilla-Morales, Jorge R Corona-Rivera, Cesar Palomino-Cueva, Teresa A Garcia-Cobian and Enrique Corona-Rivera

    Citation: BMC Medical Genetics 2005 6:33

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  26. Content type: Research article

    Migraine is a polygenic multifactorial disease, possessing environmental and genetic causative factors with multiple involved genes. Mutations in various ion channel genes are responsible for a number of neuro...

    Authors: Robert Curtain, James Sundholm, Rod Lea, Mick Ovcaric, John MacMillan and Lyn Griffiths

    Citation: BMC Medical Genetics 2005 6:32

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  27. Content type: Research article

    Attention Deficit Hyperactivity Disorder (ADHD) is a prevalent and highly heritable childhood disorder. The dopamine D4 receptor (DRD4) gene has shown a genetic association with ADHD in Caucasian populations w...

    Authors: Keeley-Joanne Brookes, Xiaohui Xu, Chih-Ken Chen, Yu-Shu Huang, Yu-Yu Wu and Philip Asherson

    Citation: BMC Medical Genetics 2005 6:31

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  28. Content type: Research article

    Cochlear outer hair cells change their length in response to variations in membrane potential. This capability, called electromotility, is believed to enable the sensitivity and frequency selectivity of the ma...

    Authors: Hsiao-Yuan Tang, Anping Xia, John S Oghalai, Fred A Pereira and Raye L Alford

    Citation: BMC Medical Genetics 2005 6:30

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  29. Content type: Research article

    Recent evidence suggest that the innate immune system is implicated in the early events of celiac disease (CD) pathogenesis. In this work for the first time we have assessed the relevance of different proinfla...

    Authors: B Rueda, A Zhernakova, MA López-Nevot, J Martín and BPC Koeleman

    Citation: BMC Medical Genetics 2005 6:29

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  30. Content type: Case report

    Since it's recognition in 1981, a more complete phenotype of Kabuki syndrome is becoming evident as additional cases are identified. Congenital heart defects and a number of visceral abnormalities have been ad...

    Authors: Maulik Shah, Brian Bogucki, Melissa Mavers, Daphne E deMello and Alan Knutsen

    Citation: BMC Medical Genetics 2005 6:28

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  31. Content type: Research article

    Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a m...

    Authors: Christine Zühlke, Andreas Dalski, Eberhard Schwinger and Ulrich Finckh

    Citation: BMC Medical Genetics 2005 6:27

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  32. Content type: Case report

    Screening mammography has had a positive impact on breast cancer mortality but cannot detect all breast tumors. In a small study, we confirmed that low power magnetic resonance imaging (MRI) could identify mam...

    Authors: Jean J Latimer, Wendy S Rubinstein, Jennifer M Johnson, Amal Kanbour-Shakir, Victor G Vogel and Stephen G Grant

    Citation: BMC Medical Genetics 2005 6:26

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  33. Content type: Case report

    Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifesta...

    Authors: Chun-An Chen, Nelson LS Tang, Yin-Hsiu Chien, Wei-Min Zhang, Jou-Kou Wang and Wuh-Liang Hwu

    Citation: BMC Medical Genetics 2005 6:25

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  34. Content type: Research article

    Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically...

    Authors: Virginie Scotet, Gérald Le Gac, Marie-Christine Mérour, Anne-Yvonne Mercier, Brigitte Chanu, Chandran Ka, Catherine Mura, Jean-Baptiste Nousbaum and Claude Férec

    Citation: BMC Medical Genetics 2005 6:24

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  35. Content type: Research article

    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 polymo...

    Authors: Eckart Schnakenberg, Andrea Mehles, Gunnar Cario, Klaus Rehe, Kathrin Seidemann, Brigitte Schlegelberger, Holger A Elsner, Karl H Welte, Martin Schrappe and Martin Stanulla

    Citation: BMC Medical Genetics 2005 6:23

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  36. Content type: Research article

    Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in...

    Authors: Akanchha Kesari, Hanna Rennert, Debra GB Leonard and Balraj Mittal

    Citation: BMC Medical Genetics 2005 6:22

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  37. Content type: Research article

    Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniqu...

    Authors: Marie Sogaard, Zeynep Tümer, Helle Hjalgrim, Johanne Hahnemann, Birgitte Friis, Paal Ledaal, Vibeke Faurholt Pedersen, Peter Baekgaard, Niels Tommerup, Sultan Cingöz, Morten Duno and Karen Brondum-Nielsen

    Citation: BMC Medical Genetics 2005 6:21

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  38. Content type: Research article

    PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transpositi...

    Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-Juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship and Gudrun Rappold

    Citation: BMC Medical Genetics 2005 6:20

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  39. Content type: Technical advance

    Human cytochrome P450 3A enzymes, particularly CYP3A4 and CYP3A5, play an important role in drug metabolism. CYP3A expression exhibits substantial interindividual variation, much of which may result from genet...

    Authors: Adam A Garsa, Howard L McLeod and Sharon Marsh

    Citation: BMC Medical Genetics 2005 6:19

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  40. Content type: Research article

    Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deleti...

    Authors: Birgitt Schüle, Mohammed Albalwi, Emma Northrop, David I Francis, Margaret Rowell, Howard R Slater, RJ McKinlay Gardner and Uta Francke

    Citation: BMC Medical Genetics 2005 6:18

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  41. Content type: Study protocol

    Subarachnoid hemorrhage (SAH) due to ruptured intracranial aneurysms (IAs) occurs in about 20,000 people per year in the U.S. annually and nearly half of the affected persons are dead within the first 30 days....

    Authors: Joseph P Broderick, Laura R Sauerbeck, Tatiana Foroud, John Huston III, Nathan Pankratz, Irene Meissner and Robert D Brown Jr

    Citation: BMC Medical Genetics 2005 6:17

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  42. Content type: Research article

    X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The m...

    Authors: Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson and Charles E Schwartz

    Citation: BMC Medical Genetics 2005 6:16

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  43. Content type: Technical advance

    Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearra...

    Authors: Dorte Damgaard, Peter H Nissen, Lillian G Jensen, Gitte G Nielsen, Anette Stenderup, Mogens L Larsen and Ole Faergeman

    Citation: BMC Medical Genetics 2005 6:15

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  44. Content type: Research article

    Disturbances in serotonin neurotransmission are implicated in the etiology of many psychiatric disorders, including bipolar affective disorder (BPD). The tryptophan hydroxylase gene (TPH), which codes for the enz...

    Authors: Te-Jen Lai, Chia-Yen Wu, Hsu-Wen Tsai, Yi-Mei J Lin and H Sunny Sun

    Citation: BMC Medical Genetics 2005 6:14

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  45. Content type: Research article

    Polymorphism G1465A in the GABBR1 gene has been suggested as a risk factor for non-lesional temporal lobe epilepsy (TLE); however, this genetic association study has not been independently replicated. We attem...

    Authors: Shaochun Ma, Bassel Abou-Khalil, James S Sutcliffe, Jonathan L Haines and Peter Hedera

    Citation: BMC Medical Genetics 2005 6:13

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  46. Content type: Research article

    We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion c...

    Authors: Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres and Anne-Françoise Roux

    Citation: BMC Medical Genetics 2005 6:12

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  47. Content type: Research article

    The Pro12Ala Single Nucleotide Polymorphism (SNP) of the Peroxisome Proliferator-Activated Receptor gamma 2 (PPAR-gamma 2) has been associated with insulin resistance and type 2 diabetes (T2D) and also inconsiste...

    Authors: Maya Ghoussaini, David Meyre, Stéphane Lobbens, Guillaume Charpentier, Karine Clément, Marie-Aline Charles, Maïté Tauber, Jacques Weill and Philippe Froguel

    Citation: BMC Medical Genetics 2005 6:11

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  48. Content type: Research article

    Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 h...

    Authors: Nigel PS Crawford, Maurice R Eichenberger, Daniel W Colliver, Robert K Lewis, Gary A Cobbs, Robert E Petras and Susan Galandiuk

    Citation: BMC Medical Genetics 2005 6:10

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