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  1. Germline mutations in the adenomatous polyposis gene (APC) result in familial adenomatous polyposis (FAP). FAP is an autosomal dominantly inherited disorder predisposing to colorectal cancer. Typical FAP is chara...

    Authors: Jitka Stekrova, Martina Sulova, Vera Kebrdlova, Katerina Zidkova, Jaroslav Kotlas, Denisa Ilencikova, Kamila Vesela and Milada Kohoutova

    Citation: BMC Medical Genetics 2007 8:16

    Content type: Research article

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  2. We examined the association between single nucleotide polymorphisms (SNPs) in loci encoding surfactant protein A (SFTPA) and risk of wheeze and persistent cough during the first year of life among a cohort of ...

    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 2007 8:15

    Content type: Research article

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  3. The 22q11.2 deletion syndrome is the most frequent genomic disorder with an estimated frequency of 1/4000 live births. The majority of patients (90%) have the same deletion of 3 Mb (Typically Deleted Region, T...

    Authors: Laura Torres-Juan, Jordi Rosell, Manuel Sánchez-de-la-Torre, Joan Fibla and Damià Heine-Suñer

    Citation: BMC Medical Genetics 2007 8:14

    Content type: Research article

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  4. CFL1 encodes human non-muscle cofilin (n-cofilin), which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibi...

    Authors: Huiping Zhu, James O Ebot Enaw, Chen Ma, Gary M Shaw, Edward J Lammer and Richard H Finnell

    Citation: BMC Medical Genetics 2007 8:12

    Content type: Research article

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  5. The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are influenced by 5-HT, and initial studies report an associat...

    Authors: Roberto Sacco, Veruska Papaleo, Jorg Hager, Francis Rousseau, Rainald Moessner, Roberto Militerni, Carmela Bravaccio, Simona Trillo, Cindy Schneider, Raun Melmed, Maurizio Elia, Paolo Curatolo, Barbara Manzi, Tiziana Pascucci, Stefano Puglisi-Allegra, Karl-Ludvig Reichelt…

    Citation: BMC Medical Genetics 2007 8:11

    Content type: Research article

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  6. Cutaneous Malignant Melanoma causes over 75% of skin cancer-related deaths, and it is clear that many factors may contribute to the outcome. Matrix Metalloproteinases (MMPs) play an important role in the degra...

    Authors: Javier Cotignola, Boris Reva, Nandita Mitra, Nicole Ishill, Shaokun Chuai, Ami Patel, Shivang Shah, Gretchen Vanderbeek, Daniel Coit, Klaus Busam, Allan Halpern, Alan Houghton, Chris Sander, Marianne Berwick and Irene Orlow

    Citation: BMC Medical Genetics 2007 8:10

    Content type: Research article

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  7. Commercial MLPA kits (MRC-Holland) are available for detecting imbalance at the subtelomere regions of chromosomes; each kit consists of one probe for each subtelomere.

    Authors: Joo Wook Ahn, Caroline Mackie Ogilvie, Alysia Welch, Helen Thomas, Rajiv Madula, Alison Hills, Celia Donaghue and Kathy Mann

    Citation: BMC Medical Genetics 2007 8:9

    Content type: Research article

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  8. The homologous 4q and 10q subtelomeric regions include two distinctive polymorphic arrays of 3.3 kb repeats, named D4Z4. An additional BlnI restriction site on the 10q-type sequence allows to distinguish the c...

    Authors: Monica Rossi, Enzo Ricci, Luca Colantoni, Giuliana Galluzzi, Roberto Frusciante, Pietro A Tonali and Luciano Felicetti

    Citation: BMC Medical Genetics 2007 8:8

    Content type: Research article

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  9. The SOD2 gene encodes an antioxidant enzyme, mitochondrial superoxide dismutase. SOD2 polymorphisms are of interest because of their potential roles in the modulation of free radical-mediated macromolecular damag...

    Authors: Jing Shao, Lishan Chen, Brian Marrs, Lin Lee, Hai Huang, Kenneth G Manton, George M Martin and Junko Oshima

    Citation: BMC Medical Genetics 2007 8:7

    Content type: Research article

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  10. One of the causes of Parkinson's disease is mutations in the PARK2 gene. Deletions and duplications of single exons or exon groups account for a large proportion of the gene mutations. Direct detection of these m...

    Authors: Maria I Shadrina, Elena V Semenova, Petr A Slominsky, Gulbahar H Bagyeva, Sergei N Illarioshkin, Irina I Ivanova-Smolenskaia and Svetlana A Limborska

    Citation: BMC Medical Genetics 2007 8:6

    Content type: Research article

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  11. Diabetic nephropathy is the leading cause of end stage renal failure in the western world. There is substantial epidemiological evidence supporting a genetic predisposition to diabetic nephropathy, however the...

    Authors: Amy Jayne McKnight, David A Savage, Chris C Patterson, Denise Sadlier and A Peter Maxwell

    Citation: BMC Medical Genetics 2007 8:5

    Content type: Research article

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  12. Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to misspl...

    Authors: Irene Bottillo, Alessandro De Luca, Annalisa Schirinzi, Valentina Guida, Isabella Torrente, Stefano Calvieri, Cristina Gervasini, Lidia Larizza, Antonio Pizzuti and Bruno Dallapiccola

    Citation: BMC Medical Genetics 2007 8:4

    Content type: Research article

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  13. Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression ...

    Authors: Sofia Mayans, Kurt Lackovic, Caroline Nyholm, Petter Lindgren, Karin Ruikka, Mats Eliasson, Corrado M Cilio and Dan Holmberg

    Citation: BMC Medical Genetics 2007 8:3

    Content type: Research article

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  14. Trimethylaminuria, or fish odor syndrome, includes a transient or mild malodor caused by an excessive amount of malodorous trimethylamine as a result of body secretions. Herein, we describe data to support the...

    Authors: Makiko Shimizu, John R Cashman and Hiroshi Yamazaki

    Citation: BMC Medical Genetics 2007 8:2

    Content type: Research article

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  15. Genes implicated in common complex disorders such as obesity, type 2 diabetes mellitus (T2DM) or cardiovascular diseases are not disease specific, since clinically related disorders also share genetic componen...

    Authors: María E Sáez, María T Martínez-Larrad, Reposo Ramírez-Lorca, José L González-Sánchez, Carina Zabena, María J Martinez-Calatrava, Alejandro González, Francisco J Morón, Agustín Ruiz and Manuel Serrano-Ríos

    Citation: BMC Medical Genetics 2007 8:1

    Content type: Research article

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  16. 3-Hydroxy-3-Methylglutaric aciduria (3HMG, McKusick: 246450) is an autosomal recessive branched chain organic aciduria caused by deficiency of the enzyme 3-Hydroxy-3-Methylglutaryl CoA lyase (HL, HMGCL, EC 4.1...

    Authors: Moeenaldeen Al-Sayed, Faiqa Imtiaz, Osama A Alsmadi, Mohammed S Rashed and Brian F Meyer

    Citation: BMC Medical Genetics 2006 7:86

    Content type: Research article

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  17. It is widely accepted that Type 2 Diabetes Mellitus (T2DM) and other complex diseases are the product of complex interplay between genetic susceptibility and environmental causes. To cope with such a complexit...

    Authors: Michele Pinelli, Manuela Giacchetti, Fabio Acquaviva, Sergio Cocozza, Giovanna Donnarumma, Emanuela Lapice, Gabriele Riccardi, Geremia Romano, Olga Vaccaro and Antonella Monticelli

    Citation: BMC Medical Genetics 2006 7:85

    Content type: Research article

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  18. Obesity is a major public health problem. Body mass index (BMI) is a highly heritable phenotype but robust associations of genetic polymorphisms to BMI or other obesity-related phenotypes have been difficult t...

    Authors: Darroch H Hall, Thahira Rahman, Peter J Avery and Bernard Keavney

    Citation: BMC Medical Genetics 2006 7:83

    Content type: Research article

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  19. Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS ar...

    Authors: Guillaume de la Houssaye, Ivan Bieche, Olivier Roche, Véronique Vieira, Ingrid Laurendeau, Laurence Arbogast, Hatem Zeghidi, Philippe Rapp, Philippe Halimi, Michel Vidaud, Jean-Louis Dufier, Maurice Menasche and Marc Abitbol

    Citation: BMC Medical Genetics 2006 7:82

    Content type: Case report

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  20. Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED...

    Authors: Lisbet K Lind, Christina Stecksén-Blicks, Kristina Lejon and Marcus Schmitt-Egenolf

    Citation: BMC Medical Genetics 2006 7:80

    Content type: Research article

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  21. Recent evidence suggests that brain-derived neurotrophic factor (BDNF) is an attractive candidate for modifying age at onset (AO) in Huntington disease (HD). In particular, the functional Val66Met polymorphism...

    Authors: Maren Mai, Amer D Akkad, Stefan Wieczorek, Carsten Saft, Jürgen Andrich, Peter H Kraus, Jörg T Epplen and Larissa Arning

    Citation: BMC Medical Genetics 2006 7:79

    Content type: Research article

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  22. Although there have been studies of the genetic risk factors in the development of stroke, there have been few investigations of role of genes in the cerebral response to ischemia. The brain responds to ischem...

    Authors: Ana VC Dutra, Hsiu-Fen Lin, Suh-Hang H Juo, Harvey Mohrenweiser, Souvik Sen and Raji P Grewal

    Citation: BMC Medical Genetics 2006 7:78

    Content type: Research article

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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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