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  1. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance due primarily to genetic defects in Fas (CD95/APO-1; TNFRSF6), a cell surface receptor that regul...

    Authors: Lilia L Bi, George Pan, T Prescott Atkinson, Lixin Zheng, Janet K Dale, Christopher Makris, Vishnu Reddy, Jay M McDonald, Richard M Siegel, Jennifer M Puck, Michael J Lenardo and Stephen E Straus

    Citation: BMC Medical Genetics 2007 8:41

    Content type: Research article

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  2. It is estimated that 5–10% of all breast cancer are hereditary and attributable to mutations in the highly penetrance susceptibility genes BRCA1 and BRCA2. The genetic analysis of these genes is complex and expen...

    Authors: Sandra Filippini, Ana Blanco, Ana Fernández-Marmiesse, Vanesa Álvarez-Iglesias, Clara Ruíz-Ponte, Ángel Carracedo and Ana Vega

    Citation: BMC Medical Genetics 2007 8:40

    Content type: Research article

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  3. The FABP2 gene encodes for the intestinal FABP (IFABP) protein, which is expressed only in intestinal enterocytes. A polymorphism at codon 54 in exon 2 of the FABP2 gene exchanges an Alanine (Ala), in the smal...

    Authors: Laura C Gomez, Sebastián M Real, Marta S Ojeda, Sergio Gimenez, Luis S Mayorga and María Roqué

    Citation: BMC Medical Genetics 2007 8:39

    Content type: Research article

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  4. The 3'-untranslated region (3'-UTR) of mRNA contains regulatory elements that are essential for the appropriate expression of many genes. These regulatory elements are involved in the control of nuclear transp...

    Authors: Stella Marie Reamon-Buettner, Si-Hyen Cho and Juergen Borlak

    Citation: BMC Medical Genetics 2007 8:38

    Content type: Research article

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  5. In adults, the TCF7L2 rs7903146 T allele, commonly associated with type 2 diabetes (T2D), has been also associated with a lower body mass index (BMI) in T2D individuals and with a smaller waist circumference in s...

    Authors: Stéphane Cauchi, David Meyre, Hélène Choquet, Samia Deghmoun, Emmanuelle Durand, Stefan Gaget, Cécile Lecoeur, Philippe Froguel and Claire Levy-Marchal

    Citation: BMC Medical Genetics 2007 8:37

    Content type: Research article

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  6. MeCP2, methyl-CpG-binding protein 2, binds to methylated cytosines at CpG dinucleotides, as well as to unmethylated DNA, and affects chromatin condensation. MECP2 mutations in females lead to Rett syndrome, a neu...

    Authors: ChaRandle Jordan, Hong Hua Li, Helen C Kwan and Uta Francke

    Citation: BMC Medical Genetics 2007 8:36

    Content type: Research article

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  7. The role of gene-environment interactions as risk factors for coronary heart disease (CAD) remains largely undefined. Such interactions may involve gene mutations and disease conditions such as type 2 diabetes...

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

    Citation: BMC Medical Genetics 2007 8:35

    Content type: Research article

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  8. The catechol-O-methyltransferase (COMT) gene contains a functional polymorphism, Val158Met which has been related to common diseases like cancer, psychiatric illness and myocardial infarction. Whether the Val158M...

    Authors: Knut Hagen, Lars J Stovner, Frank Skorpen, Elin Pettersen and John-Anker Zwart

    Citation: BMC Medical Genetics 2007 8:34

    Content type: Research article

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  9. The chemokine receptor CCR5 has been detected at elevated levels on synovial T cells, and a 32 bp deletion in the CCR5 gene leads to a non-functional receptor. A negative association between the CCR5Δ32 and rheum...

    Authors: Ewald Lindner, Gry BN Nordang, Espen Melum, Berit Flatø, Anne Marit Selvaag, Erik Thorsby, Tore K Kvien, Øystein T Førre and Benedicte A Lie

    Citation: BMC Medical Genetics 2007 8:33

    Content type: Research article

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  10. Alterations in the highly penetrant cancer susceptibility gene BRCA1 are responsible for the majority of hereditary breast and/or ovarian cancers. However, the number of detected germline mutations has been lower...

    Authors: Petra Vasickova, Eva Machackova, Miroslava Lukesova, Jiri Damborsky, Ondrej Horky, Hana Pavlu, Jitka Kuklova, Veronika Kosinova, Marie Navratilova and Lenka Foretova

    Citation: BMC Medical Genetics 2007 8:32

    Content type: Research article

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  12. Ischaemic stroke is a common disorder with genetic and environmental components contributing to overall risk. Atherothromboembolic abnormalities, which play a crucial role in the pathogenesis of ischaemic stro...

    Authors: Alireza Pasdar, Ghasem Yadegarfar, Alastair Cumming, Lawrence Whalley, David St Clair and Mary-Joan MacLeod

    Citation: BMC Medical Genetics 2007 8:30

    Content type: Research article

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  13. There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the nort...

    Authors: Cristian Pattaro, Fabio Marroni, Alice Riegler, Deborah Mascalzoni, Irene Pichler, Claudia B Volpato, Umberta Dal Cero, Alessandro De Grandi, Clemens Egger, Agatha Eisendle, Christian Fuchsberger, Martin Gögele, Sara Pedrotti, Gerd K Pinggera, Stefan A Stefanov, Florian D Vogl…

    Citation: BMC Medical Genetics 2007 8:29

    Content type: Research article

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  14. N-acetyltransferase 1 (NAT1) and 2 (NAT2) are polymorphic isoenzymes responsible for the metabolism of numerous drugs and carcinogens. Acetylation catalyzed by NAT1 and NAT2 are important in metabolic activati...

    Authors: Suhal S Mahid, Daniel W Colliver, Nigel PS Crawford, Benjamin D Martini, Mark A Doll, David W Hein, Gary A Cobbs, Robert E Petras and Susan Galandiuk

    Citation: BMC Medical Genetics 2007 8:28

    Content type: Research article

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  15. The renin-angiotensin-aldosterone system (RAAS) is involved in the cardiovascular homeostasis as shown by previous studies reporting a positive association between specific RAAS genotypes and an increased risk...

    Authors: Erica Franco, Luigi Palumbo, Francesca Crobu, Matteo Anselmino, Simone Frea, Giuseppe Matullo, Alberto Piazza, Gian Paolo Trevi and Serena Bergerone

    Citation: BMC Medical Genetics 2007 8:27

    Content type: Research article

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  16. Wolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz. T...

    Authors: Hsun-Tien Tsai, Ying-Piao Wang, Shing-Fang Chung, Hung-Ching Lin, Guan-Min Ho and Min-Tsan Shu

    Citation: BMC Medical Genetics 2007 8:26

    Content type: Research article

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  17. Cognitive impairments are heterogeneous conditions, and it is estimated that 10% may be caused by a defect of mental function genes on the X chromosome. One of those genes is Aristaless related homeobox (ARX) enc...

    Authors: Carmela Laperuta, Letizia Spizzichino, Pio D'Adamo, Jlenia Monfregola, Antonio Maiorino, Angela D'Eustacchio, Valerio Ventruto, Giovanni Neri, Michele D'Urso, Pietro Chiurazzi, Matilde Valeria Ursini and Maria Giuseppina Miano

    Citation: BMC Medical Genetics 2007 8:25

    Content type: Research article

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  18. Methylmalonic acidemia (MMA), a common organic aciduria, is caused by deficiency of the mitochondrial localized, 5'deoxyadenosylcobalamin dependent enzyme, methylmalonyl-CoA mutase (MUT). Liver transplantation...

    Authors: Randy J Chandler, Matthew S Tsai, Kenneth Dorko, Jennifer Sloan, Mark Korson, Richard Freeman, Stephen Strom and Charles P Venditti

    Citation: BMC Medical Genetics 2007 8:24

    Content type: Research article

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  19. Vascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotroph...

    Authors: Alice Brockington, Beatrijs Wokke, Hannah Nixon, Judith Hartley and Pamela J Shaw

    Citation: BMC Medical Genetics 2007 8:23

    Content type: Research article

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  20. By performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had previously identified point mutations in 167 out of 182 (91.7...

    Authors: Magali Taulan, Anne Girardet, Caroline Guittard, Jean-Pierre Altieri, Carine Templin, Christophe Beroud, Marie des Georges and Mireille Claustres

    Citation: BMC Medical Genetics 2007 8:22

    Content type: Research article

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  21. The suppressor of cytokine signaling (SOCS)-3 is a negative feedback regulator of cytokine signaling and also influences leptin signaling. We investigated association of variations in the coding sequence and p...

    Authors: Katja Hölter, Anne-Kathrin Wermter, André Scherag, Wolfgang Siegfried, Hanspeter Goldschmidt, Johannes Hebebrand and Anke Hinney

    Citation: BMC Medical Genetics 2007 8:21

    Content type: Research article

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  22. Cytokines play an important role in the development of diabetic chronic renal insufficiency (CRI). Transforming growth factor β1 (TGF β1) induces renal hypertrophy and fibrosis, and cytokines like tumor necros...

    Authors: Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta and BK Thelma

    Citation: BMC Medical Genetics 2007 8:20

    Content type: Research article

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  23. Myostatin is a negative regulator of skeletal muscle growth. Truncating mutations in the myostatin gene have been reported to result in gross muscle hypertrophy. Duchenne muscular dystrophy (DMD), the most com...

    Authors: Atsushi Nishiyama, Yasuhiro Takeshima, Kayoko Saiki, Akiko Narukage, Yoshinobu Oyazato, Mariko Yagi and Masafumi Matsuo

    Citation: BMC Medical Genetics 2007 8:19

    Content type: Research article

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  24. The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the ...

    Authors: Maria Giuseppina Miano, Carmela Laperuta, Pietro Chiurazzi, Michele D'Urso and Matilde Valeria Ursini

    Citation: BMC Medical Genetics 2007 8:18

    Content type: Case report

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  25. Tachycardia is commonly observed in hypertensive patients, predominantly mediated by regulatory mechanisms integrated within the autonomic nervous system. The genetic loci and genes associated with increased h...

    Authors: Gustavo JJ Silva, Alexandre C Pereira, Eduardo M Krieger and José E Krieger

    Citation: BMC Medical Genetics 2007 8:17

    Content type: Research article

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  26. 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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  27. 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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  28. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  45. 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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  46. 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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  48. 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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  49. 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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  50. 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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BMC Medical Genetics

ISSN: 1471-2350

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