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  1. Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and ...

    Authors: Angela Bentivegna, Donatella Milani, Cristina Gervasini, Paola Castronovo, Federica Mottadelli, Stefano Manzini, Patrizia Colapietro, Lucio Giordano, Francesca Atzeri, Maria T Divizia, Maria L Giovannucci Uzielli, Giovanni Neri, Maria F Bedeschi, Francesca Faravelli, Angelo Selicorni and Lidia Larizza

    Citation: BMC Medical Genetics 2006 7:77

    Content type: Research article

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  2. The APOA5 gene variants, -1131T>C and S19W, are associated with altered triglyceride concentrations in studies of subjects of Caucasian and East Asian descent. There are few studies of these variants in South Asi...

    Authors: Giriraj R Chandak, Kirsten J Ward, Chittaranjan S Yajnik, Anand N Pandit, Ashish Bavdekar, Charu V Joglekar, Caroline HD Fall, P Mohankrishna, Terence J Wilkin, Bradley S Metcalf, Michael N Weedon, Timothy M Frayling and Andrew T Hattersley

    Citation: BMC Medical Genetics 2006 7:76

    Content type: Research article

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  3. 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 wo...

    Authors: Sunita Saxena, Anurupa Chakraborty, Mishi Kaushal, Sanjeev Kotwal, Dinesh Bhatanager, Ravindar S Mohil, Chintamani Chintamani, Anil K Aggarwal, Veena K Sharma, Prakash C Sharma, Gilbert Lenoir, David E Goldgar and Csilla I Szabo

    Citation: BMC Medical Genetics 2006 7:75

    Content type: Research article

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  4. Generation Scotland: the Scottish Family Health Study aims to identify genetic variants accounting for variation in levels of quantitative traits underlying the major common complex diseases (such as cardiovas...

    Authors: Blair H Smith, Harry Campbell, Douglas Blackwood, John Connell, Mike Connor, Ian J Deary, Anna F Dominiczak, Bridie Fitzpatrick, Ian Ford, Cathy Jackson, Gillian Haddow, Shona Kerr, Robert Lindsay, Mark McGilchrist, Robin Morton, Graeme Murray…

    Citation: BMC Medical Genetics 2006 7:74

    Content type: Study protocol

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  5. 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 ...

    Authors: Nikita Thakur, D Nageshwar Reddy, G Venkat Rao, P Mohankrishna, Lalji Singh and Giriraj R Chandak

    Citation: BMC Medical Genetics 2006 7:73

    Content type: Research article

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  6. Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of multiple hamartomas in many internal organs. Mutations in either one of 2 genes, TSC1 and TSC2, have been attr...

    Authors: Chia-Cheng Hung, Yi-Ning Su, Shu-Chin Chien, Horng-Huei Liou, Chih-Chuan Chen, Pau-Chung Chen, Chia-Jung Hsieh, Chih-Ping Chen, Wang-Tso Lee, Win-Li Lin and Chien-Nan Lee

    Citation: BMC Medical Genetics 2006 7:72

    Content type: Research article

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  7. 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...

    Authors: Jian-Liang Li, Michael R Hayden, Simon C Warby, Alexandra Durr, Patrick J Morrison, Martha Nance, Christopher A Ross, Russell L Margolis, Adam Rosenblatt, Ferdinando Squitieri, Luigi Frati, Estrella Gómez-Tortosa, Carmen Ayuso García, Oksana Suchowersky, Mary Lou Klimek, Ronald JA Trent…

    Citation: BMC Medical Genetics 2006 7:71

    Content type: Research article

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  8. Mutations in several potassium channel subunits have been associated with rare forms of atrial fibrillation. In order to explore the role of potassium channels in inherited typical forms of the arrhythmia, we ...

    Authors: Patrick T Ellinor, Vadim I Petrov-Kondratov, Elena Zakharova, Edwin G Nam and Calum A MacRae

    Citation: BMC Medical Genetics 2006 7:70

    Content type: Research article

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  9. Gaucher disease is a potentially severe lysosomal storage disorder caused by mutations in the human glucocerebrosidase gene (GBA). We have developed a multiplexed genetic assay for eight diseases prevalent in ...

    Authors: Justin T Brown, Cora Lahey, Walairat Laosinchai-Wolf and Andrew G Hadd

    Citation: BMC Medical Genetics 2006 7:69

    Content type: Technical advance

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  10. Otitis media is one of the most common infections of early childhood. Surfactant protein A functions as part of the innate immune response, which plays an important role in preventing infections early in life....

    Authors: Melinda M Pettigrew, Janneane F Gent, Yong Zhu, Elizabeth W Triche, Kathleen D Belanger, Theodore R Holford, Michael B Bracken and Brian P Leaderer

    Citation: BMC Medical Genetics 2006 7:68

    Content type: Research article

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  11. Chronic inflammation and autoimmunity likely contribute to the pathogenesis of abdominal aortic aneurysms (AAAs). The aim of this study was to investigate the role of autoimmunity in the etiology of AAAs using...

    Authors: Toru Ogata, Lucie Gregoire, Katrina AB Goddard, Magdalena Skunca, Gerard Tromp, Wayne D Lancaster, Antonio R Parrado, Qing Lu, Hidenori Shibamura, Natzi Sakalihasan, Raymond Limet, Gerald L MacKean, Claudette Arthur, Taijiro Sueda and Helena Kuivaniemi

    Citation: BMC Medical Genetics 2006 7:67

    Content type: Research article

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  13. Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21...

    Authors: Paul G Horan, Adrian R Allen, Anne E Hughes, Chris C Patterson, Mark Spence, Paul G McGlinchey, Christine Belton, Tracy CL Jardine and Pascal P McKeown

    Citation: BMC Medical Genetics 2006 7:65

    Content type: Research article

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  14. Multiple sclerosis (MS) is a disorder of the central nervous system (CNS) characterised by inflammation and neuronal degeneration. It is believed to result from the complex interaction of a number of genes, ea...

    Authors: Matthew J Bugeja, David Booth, Bruce Bennetts, Robert Heard, Justin Rubio and Graeme Stewart

    Citation: BMC Medical Genetics 2006 7:64

    Content type: Research article

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  15. Multiple sclerosis (MS) is an immune-mediated disease of polygenic etiology. Dissection of its genetic background is a complex problem, because of the combinatorial possibilities of gene-gene interactions. As ...

    Authors: Olga O Favorova, Alexander V Favorov, Alexey N Boiko, Timofey V Andreewski, Marina A Sudomoina, Alexey D Alekseenkov, Olga G Kulakova, Eugenyi I Gusev, Giovanni Parmigiani and Michael F Ochs

    Citation: BMC Medical Genetics 2006 7:63

    Content type: Research article

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  16. Betacellulin is a member of the epidermal growth factor family, expressed at the highest levels predominantly in the pancreas and thought to be involved in islet neogenesis and regeneration. Nonsynonymous codi...

    Authors: Steven C Elbein, Xiaoqin Wang, Mohammad A Karim, Winston S Chu and Kristi D Silver

    Citation: BMC Medical Genetics 2006 7:62

    Content type: Research article

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  17. More than 85% of Rett syndrome (RTT) patients have heterozygous mutations in the X-linked MECP2 gene which encodes methyl-CpG-binding protein 2, a transcriptional repressor that binds methylated CpG sites. Becaus...

    Authors: Ivan J Delgado, Dong Sun Kim, Karen N Thatcher, Janine M LaSalle and Ignatia B Van den Veyver

    Citation: BMC Medical Genetics 2006 7:61

    Content type: Research article

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  18. Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described wit...

    Authors: Bruno Maranda, Nicole Lemieux and Emmanuelle Lemyre

    Citation: BMC Medical Genetics 2006 7:60

    Content type: Case report

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  19. Axenfeld-Rieger syndrome (ARS) is associated with mutations in the PITX2 gene that encodes a homeobox transcription factor. Several intronic PITX2 mutations have been reported in Axenfeld-Rieger patients but thei...

    Authors: Nicole L Maciolek, Wallace LM Alward, Jeffrey C Murray, Elena V Semina and Mark T McNally

    Citation: BMC Medical Genetics 2006 7:59

    Content type: Research article

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  21. Recent studies have suggested that the Arg allele of β3-adrenergic receptor (ADRB3) gene is associated with body mass index (BMI), which is an important predictor of bone mineral density (BMD) and fracture risk. ...

    Authors: Claire Y Wang, Nguyen D Nguyen, Nigel A Morrison, John A Eisman, Jacqueline R Center and Tuan V Nguyen

    Citation: BMC Medical Genetics 2006 7:57

    Content type: Research article

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  22. IgA deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. Genetic and environmental factors are suspected to be involved in the development of the disease. Interleukin-10 (IL-10) is a cy...

    Authors: Javier Ortiz, Miguel Fernández-Arquero, Elena Urcelay, Raquel López-Mejías, Antonio Ferreira, Gumersindo Fontán, Emilio G de la Concha and Alfonso Martínez

    Citation: BMC Medical Genetics 2006 7:56

    Content type: Research article

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  23. Familial Hypercholesterolemia is a common autosomal dominantly inherited disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR). Deletions and...

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

    Citation: BMC Medical Genetics 2006 7:55

    Content type: Research article

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  24. Type 1 diabetes (T1D) is a chronic, autoimmune and multifactorial disease characterized by abnormal metabolism of carbohydrate and fat. Diminished carnitine plasma levels have been previously reported in T1D p...

    Authors: Jose Luis Santiago, Alfonso Martínez, Hermenegildo de la Calle, Miguel Fernández-Arquero, M Ángeles Figueredo, Emilio G de la Concha and Elena Urcelay

    Citation: BMC Medical Genetics 2006 7:54

    Content type: Research article

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  25. Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disea...

    Authors: Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, Gerhard Haas, Jürgen Gilles, Jörg T Epplen and Moritz Meins

    Citation: BMC Medical Genetics 2006 7:53

    Content type: Research article

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  27. Klotho has an important role in insulin signalling and the development of ageing-like phenotypes in mice. The common functional "KL-VS" variant in the KLOTHO (KL) gene is associated with longevity in humans but i...

    Authors: Rachel M Freathy, Michael N Weedon, David Melzer, Beverley Shields, Graham A Hitman, Mark Walker, Mark I McCarthy, Andrew T Hattersley and Timothy M Frayling

    Citation: BMC Medical Genetics 2006 7:51

    Content type: Research article

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  28. Since both excess glucocorticoid secretion and central obesity are clinical features of some obese patients, it is worthwhile to study a possible association of glucocorticoid receptor gene (GRL) variants with ob...

    Authors: Amelia Marti, M Carmen Ochoa, Almudena Sánchez-Villegas, J Alfredo Martínez, Miguel Angel Martínez-González, Johannes Hebebrand, Anke Hinney and Helmut Vedder

    Citation: BMC Medical Genetics 2006 7:50

    Content type: Research article

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  29. Peptidase inhibitor 3 (PI3) inhibits neutrophil elastase and proteinase-3, and has a potential role in skin and lung diseases as well as in cancer. Genome-wide expression profiling of chorioamniotic membranes ...

    Authors: Mahboob A Chowdhury, Helena Kuivaniemi, Roberto Romero, Samuel Edwin, Tinnakorn Chaiworapongsa and Gerard Tromp

    Citation: BMC Medical Genetics 2006 7:49

    Content type: Research article

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  30. Several lines of evidence suggest that chemokines and cytokines play an important role in the inflammatory development and progression of systemic lupus erythematosus. The aim of this study was to evaluate the...

    Authors: Elena Sánchez, José M Sabio, José L Callejas, Enrique de Ramón, Rosa Garcia-Portales, Francisco J García-Hernández, Juan Jiménez-Alonso, Ma Francisca González-Escribano, Javier Martín and Bobby P Koeleman

    Citation: BMC Medical Genetics 2006 7:48

    Content type: Research article

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  31. The genetic mechanisms underlying interindividual blood pressure variation reflect the complex interplay of both genetic and environmental variables. The current standard statistical methods for detecting gene...

    Authors: Júlia M Pavan Soler, Alexandre C Pereira, César H Tôrres and José E Krieger

    Citation: BMC Medical Genetics 2006 7:47

    Content type: Research article

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  32. Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristi...

    Authors: Kendra W Kimberley, Colleen A Morris and Holly H Hobart

    Citation: BMC Medical Genetics 2006 7:46

    Content type: Research article

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  33. Pharmacogenetic studies are essential in understanding the interindividual variability of drug responses. DNA sample collection for genotyping is a critical step in genetic studies. A method using dried blood ...

    Authors: Jose M Vidal-Taboada, Mercedes Cucala, Sergio Mas Herrero, Amalia Lafuente and Albert Cobos

    Citation: BMC Medical Genetics 2006 7:45

    Content type: Research article

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  34. The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 sh...

    Authors: Claire Cheyssac, Cécile Lecoeur, Aurélie Dechaume, Amina Bibi, Guillaume Charpentier, Beverley Balkau, Michel Marre, Philippe Froguel, Fernando Gibson and Martine Vaxillaire

    Citation: BMC Medical Genetics 2006 7:44

    Content type: Research article

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  35. Hereditary Hemochromatosis (HH) is an autosomal recessive disorder highlighted byiron-overload. Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with HH in different e...

    Authors: Osama A Alsmadi, Fadi Al-Kayal, Mohamed Al-Hamed and Brian F Meyer

    Citation: BMC Medical Genetics 2006 7:43

    Content type: Research article

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  36. Renal failure in diabetes is mediated by multiple pathways. Experimental and clinical evidences suggest that renin-angiotensin-aldosterone system (RAAS) has a crucial role in diabetic kidney disease. A relatio...

    Authors: Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta, AK Sharma, AR Rao, R Nagendra, T Satish Chandra, SC Tiwari, Priyanka Rastogi, B Lal Gupta and BK Thelma

    Citation: BMC Medical Genetics 2006 7:42

    Content type: Research article

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  37. 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, macromelano...

    Authors: Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Hélène Dollfus, Dominique Bonneau, Francis L Munier, Daniel F Schorderet, Alex V Levin, Elise Héon, Joanne Sutherland, Didier Lacombe, Edith Said, Eedy Mezer, Josseline Kaplan…

    Citation: BMC Medical Genetics 2006 7:41

    Content type: Research article

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  38. Trachoma, an infectious disease of the conjunctiva caused by Chlamydia trachomatis, is an important global cause of blindness. A dysregulated extracellular matrix (ECM) proteolysis during the processes of tissue ...

    Authors: Angels Natividad, Graham Cooke, Martin J Holland, Matthew J Burton, Hassan M Joof, Kirk Rockett, Dominic P Kwiatkowski, David CW Mabey and Robin L Bailey

    Citation: BMC Medical Genetics 2006 7:40

    Content type: Research article

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  39. Studies investigating the genetic and environmental characteristics of atrial fibrillation (AF) may provide new insights in the complex development of AF. We aimed to investigate the association between severa...

    Authors: Folkert W Asselbergs, Jason H Moore, Maarten P van den Berg, Eric B Rimm, Rudolf A de Boer, Robin P Dullaart, Gerjan Navis and Wiek H van Gilst

    Citation: BMC Medical Genetics 2006 7:39

    Content type: Research article

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  40. The association of the deletion in GSTT1 and GSTM1 genes with coronary artery disease (CAD) among smokers is controversial. In addition, no such investigation has previously been conducted among Arabs.

    Authors: Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed and Nduna Dzimiri

    Citation: BMC Medical Genetics 2006 7:38

    Content type: Research article

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  42. Insulin resistance and glucose dysmetabolism in polycystic ovary syndrome (PCOS) are related with the polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, especially Gly972Arg/Ala...

    Authors: Ta-Chin Lin, Jui-Mei Yen, Kum-Bing Gong, Tsung-Cheng Kuo, Dong-Chi Ku, Shu-Fen Liang and Ming-Jiuan Wu

    Citation: BMC Medical Genetics 2006 7:36

    Content type: Research article

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  43. 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 ...

    Authors: María José Gamundi, Imma Hernan, María Martínez-Gimeno, Miquel Maseras, Blanca García-Sandoval, Carmen Ayuso, Guillermo Antiñolo, Montserrat Baiget and Miguel Carballo

    Citation: BMC Medical Genetics 2006 7:35

    Content type: Research article

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  45. Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme defici...

    Authors: Gregg E Homanics, Kristen Skvorak, Carolyn Ferguson, Simon Watkins and Harbhajan S Paul

    Citation: BMC Medical Genetics 2006 7:33

    Content type: Research article

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  46. Celiac disease (CD) is a chronic disorder characterized by a pathological inflammatory response after exposure to gluten in genetically susceptible individuals. The HLA complex accounts for less than half of t...

    Authors: Concepción Núñez, Diana Alecsandru, Jezabel Varadé, Isabel Polanco, Carlos Maluenda, Miguel Fernández-Arquero, Emilio G de la Concha, Elena Urcelay and Alfonso Martínez

    Citation: BMC Medical Genetics 2006 7:32

    Content type: Research article

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  49. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterized by progressive degeneration of right ventricular myocardium, arrhythmias and an increased risk of sudden death at a ...

    Authors: Luzuko O Matolweni, Soraya Bardien, George Rebello, Ekow Oppon, Miroslav Munclinger, Rajkumar Ramesar, Hugh Watkins and Bongani M Mayosi

    Citation: BMC Medical Genetics 2006 7:29

    Content type: Research article

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  50. Paraoxonase (PON) has anti-atherogenic activity due to its protective function against low density lipoprotein (LDL) oxidation. Alteration of enzyme activity due to polymorphisms in the PON genes may influence th...

    Authors: Alireza Pasdar, Helen Ross-Adams, Alastair Cumming, John Cheung, Lawrence Whalley, David St Clair and Mary-Joan MacLeod

    Citation: BMC Medical Genetics 2006 7:28

    Content type: Research article

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BMC Medical Genetics

ISSN: 1471-2350

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