Ausgabe 1/2006
Inhalt (86 Artikel)
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
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, Peter EM Taschner
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
Brian P Brooks, Jeanne M Meck, Bassem R Haddad, Claude Bendavid, Delphine Blain, Jeffrey A Toretsky
Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
Gordon A Francis, Gang Li, Robin Casey, Jian Wang, Henian Cao, Todd Leff, Robert A Hegele
Influence of advanced age of maternal grandmothers on Down syndrome
Suttur S Malini, Nallur B Ramachandra
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue
Sergio G Chialina, Claudia Fornes, Carolina Landi, Carlos D de La Vega Elena, Maria V Nicolorich, Ricardo J Dourisboure, Angela Solano, Edita A Solis
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
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, Radovan Komel
The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis
Elena Nicolis, Matteo Pasetto, Cristina Cigana, Ugo Pradal, Baroukh M Assael, Paola Melotti
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)
Seema R Lalani, Trilochan Sahoo, Merideth E Sanders, Sarika U Peters, Bassem A Bejjani
Genomic screen for loci associated with tobacco usage in Mission Indians
Cindy L Ehlers, Kirk C Wilhelmsen
The quantification of COMT mRNA in post mortem cerebellum tissue: diagnosis, genotype, methylation and expression
Emma L Dempster, Jonathan Mill, Ian W Craig, David A Collier
Gene expression profiles in Finnish twins with multiple sclerosis
Silja Särkijärvi, Hanna Kuusisto, Raija Paalavuo, Mari Levula, Nina Airla, Terho Lehtimäki, Jaakko Kaprio, Markku Koskenvuo, Irina Elovaara
No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility
Natalie J Colson, Rod A Lea, Sharon Quinlan, Lyn R Griffiths
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
Bhaswati Pandit, Gwang-Sook Ahn, Starr E Hazard, Derek Gordon, Shailendra B Patel
Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families – a public health perspective
Juan Merlo, Kristina Bengtsson-Boström, Ulf Lindblad, Lennart Råstam, Olle Melander
The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations
Teresa M Rudkin, Nancy Hamel, Maria Galvez, Frans Hogervorst, Johan JP Gille, Pål Møller, Jaran Apold, William D Foulkes
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload
Eugénia Cruz, Jorge Vieira, Susana Almeida, Rosa Lacerda, Andrea Gartner, Carla S Cardoso, Helena Alves, Graça Porto
Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program
Jason M Laramie, Jemma B Wilk, Steven C Hunt, R Curtis Ellison, Aravinda Chakravarti, Eric Boerwinkle, Richard H Myers
Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions
Raihan K Uddin, Yang Zhang, Victoria Mok Siu, Yao-Shan Fan, Richard L O'Reilly, Jay Rao, Shiva M Singh
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish
Jacob L McCauley, Daniel W Hahs, Lan Jiang, William K Scott, Kathleen A Welsh-Bohmer, Charles E Jackson, Jeffery M Vance, Margaret A Pericak-Vance, Jonathan L Haines
Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases
Deborah J Smyth, Joanna MM Howson, Felicity Payne, Lisa M Maier, Rebecca Bailey, Kieran Holland, Christopher E Lowe, Jason D Cooper, John S Hulme, Adrian Vella, Ingrid Dahlman, Alex C Lam, Sarah Nutland, Neil M Walker, Rebecca CJ Twells, John A Todd
On the Wegener granulomatosis associated region on chromosome 6p21.3
Paweł Szyld, Peter Jagiello, Elena Csernok, Wolfgang L Gross, Joerg T Epplen
Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFEC282Y homozygosity
James C Barton, Ellen H Barton, Ronald T Acton
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families
Kathleen K Oros, Guy Leblanc, Suzanna L Arcand, Zhen Shen, Chantal Perret, Anne-Marie Mes-Masson, William D Foulkes, Parviz Ghadirian, Diane Provencher, Patricia N Tonin
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21
Chi-Ming Li, Meirong Guo, Martha Salas, Nicole Schupf, Wayne Silverman, Warren B Zigman, Sameera Husain, Dorothy Warburton, Harshwardhan Thaker, Benjamin Tycko
A functional PTPN22polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population
Concepción Núñez, Raquel López-Mejías, Alfonso Martínez, M Cruz García-Rodríguez, Miguel Fernández-Arquero, Emilio G de la Concha, Elena Urcelay
A study of the relationships between KLF2polymorphisms and body weight control in a French population
Aline Meirhaeghe, Dominique Cottel, Philippe Amouyel
Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3
Greg L Christensen, Ivaylo P Ivanov, Stephen P Wooding, John F Atkins, Anna Mielnik, Peter N Schlegel, Douglas T Carrell
Paraoxonase gene polymorphisms and haplotype analysis in a stroke population
Alireza Pasdar, Helen Ross-Adams, Alastair Cumming, John Cheung, Lawrence Whalley, David St Clair, Mary-Joan MacLeod
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
Luzuko O Matolweni, Soraya Bardien, George Rebello, Ekow Oppon, Miroslav Munclinger, Rajkumar Ramesar, Hugh Watkins, Bongani M Mayosi
N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease
Juergen Borlak, Stella Marie Reamon-Buettner
The Glu27 genotypes of the Beta2-adrenergic receptor are predictors for severe coronary artery disease
Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
Interleukin-10 haplotypes in Celiac Disease in the Spanish population
Concepción Núñez, Diana Alecsandru, Jezabel Varadé, Isabel Polanco, Carlos Maluenda, Miguel Fernández-Arquero, Emilio G de la Concha, Elena Urcelay, Alfonso Martínez
Production and characterization of murine models of classic and intermediate maple syrup urine disease
Gregg E Homanics, Kristen Skvorak, Carolyn Ferguson, Simon Watkins, Harbhajan S Paul
GAIA: An easy-to-use web-based application for interaction analysis of case-control data
Stuart Macgregor, Imtiaz A Khan
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
María José Gamundi, Imma Hernan, María Martínez-Gimeno, Miquel Maseras, Blanca García-Sandoval, Carmen Ayuso, Guillermo Antiñolo, Montserrat Baiget, Miguel Carballo
Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese population- not correlated with insulin receptor substrate-1 Gly972Arg/Ala513Pro polymorphism
Ta-Chin Lin, Jui-Mei Yen, Kum-Bing Gong, Tsung-Cheng Kuo, Dong-Chi Ku, Shu-Fen Liang, Ming-Jiuan Wu
Deletions in the Y-derived amelogenin gene fragment in the Indian population
VK Kashyap, Sanghamitra Sahoo, T Sitalaximi, R Trivedi
T null and M nullgenotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking
Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study
Folkert W Asselbergs, Jason H Moore, Maarten P van den Berg, Eric B Rimm, Rudolf A de Boer, Robin P Dullaart, Gerjan Navis, Wiek H van Gilst
A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatisinfection
Angels Natividad, Graham Cooke, Martin J Holland, Matthew J Burton, Hassan M Joof, Kirk Rockett, Dominic P Kwiatkowski, David CW Mabey, Robin L Bailey
Eight previously unidentified mutations found in the OA1ocular albinism gene
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, Jean-Louis Dufier, Cécile Marsac, Maurice Menasche, Marc Abitbol
Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms
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, BK Thelma
Frequency of common HFEvariants in the Saudi population: a high throughput molecular beacon-based study
Osama A Alsmadi, Fadi Al-Kayal, Mohamed Al-Hamed, Brian F Meyer
Analysis of common PTPN1gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
Claire Cheyssac, Cécile Lecoeur, Aurélie Dechaume, Amina Bibi, Guillaume Charpentier, Beverley Balkau, Michel Marre, Philippe Froguel, Fernando Gibson, Martine Vaxillaire
Satisfaction survey with DNA cards method to collect genetic samples for pharmacogenetics studies
Jose M Vidal-Taboada, Mercedes Cucala, Sergio Mas Herrero, Amalia Lafuente, Albert Cobos
BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
Kendra W Kimberley, Colleen A Morris, Holly H Hobart
Gene by environment QTL mapping through multiple trait analyses in blood pressure salt-sensitivity: identification of a novel QTL in rat chromosome 5
Júlia M Pavan Soler, Alexandre C Pereira, César H Tôrres, José E Krieger
Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus
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, Bobby P Koeleman
Identification of novel functional sequence variants in the gene for peptidase inhibitor 3
Mahboob A Chowdhury, Helena Kuivaniemi, Roberto Romero, Samuel Edwin, Tinnakorn Chaiworapongsa, Gerard Tromp
Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity
Amelia Marti, M Carmen Ochoa, Almudena Sánchez-Villegas, J Alfredo Martínez, Miguel Angel Martínez-González, Johannes Hebebrand, Anke Hinney, Helmut Vedder
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
Rachel M Freathy, Michael N Weedon, David Melzer, Beverley Shields, Graham A Hitman, Mark Walker, Mark I McCarthy, Andrew T Hattersley, Timothy M Frayling
E-selectin S128R polymorphism and severe coronary artery disease in Arabs
Khaled K Abu-Amero, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, Gerhard Haas, Jürgen Gilles, Jörg T Epplen, Moritz Meins
Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study
Jose Luis Santiago, Alfonso Martínez, Hermenegildo de la Calle, Miguel Fernández-Arquero, M Ángeles Figueredo, Emilio G de la Concha, Elena Urcelay
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects
Peter H Nissen, Dorte Damgaard, Anette Stenderup, Gitte G Nielsen, Mogens L Larsen, Ole Færgeman
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study
Javier Ortiz, Miguel Fernández-Arquero, Elena Urcelay, Raquel López-Mejías, Antonio Ferreira, Gumersindo Fontán, Emilio G de la Concha, Alfonso Martínez
β3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES)
Claire Y Wang, Nguyen D Nguyen, Nigel A Morrison, John A Eisman, Jacqueline R Center, Tuan V Nguyen
N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients
Juergen Borlak, Stella Marie Reamon-Buettner
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome
Nicole L Maciolek, Wallace LM Alward, Jeffrey C Murray, Elena V Semina, Mark T McNally
Familial deletion 18p syndrome: case report
Bruno Maranda, Nicole Lemieux, Emmanuelle Lemyre
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients
Ivan J Delgado, Dong Sun Kim, Karen N Thatcher, Janine M LaSalle, Ignatia B Van den Veyver
Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects
Steven C Elbein, Xiaoqin Wang, Mohammad A Karim, Winston S Chu, Kristi D Silver
Three allele combinations associated with Multiple Sclerosis
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, Michael F Ochs
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians
Matthew J Bugeja, David Booth, Bruce Bennetts, Robert Heard, Justin Rubio, Graeme Stewart
Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study
Paul G Horan, Adrian R Allen, Anne E Hughes, Chris C Patterson, Mark Spence, Paul G McGlinchey, Christine Belton, Tracy CL Jardine, Pascal P McKeown
The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women
David Evans, Frank U Beil
Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study
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, Helena Kuivaniemi
Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma
Melinda M Pettigrew, Janneane F Gent, Yong Zhu, Elizabeth W Triche, Kathleen D Belanger, Theodore R Holford, Michael B Bracken, Brian P Leaderer
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)
Justin T Brown, Cora Lahey, Walairat Laosinchai-Wolf, Andrew G Hadd
Potassium channel gene mutations rarely cause atrial fibrillation
Patrick T Ellinor, Vadim I Petrov-Kondratov, Elena Zakharova, Edwin G Nam, Calum A MacRae
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study
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, Elizabeth McCusker, Andrea Novelletto, Marina Frontali, Jane S Paulsen, Randi Jones, Tetsuo Ashizawa, Alice Lazzarini, Vanessa C Wheeler, Ranjana Prakash, Gang Xu, Luc Djoussé, Jayalakshmi Srinidhi Mysore, Tammy Gillis, Michael Hakky, L Adrienne Cupples, Marie H Saint-Hilaire, Jang-Ho J Cha, Steven M Hersch, John B Penney, Madaline B Harrison, Susan L Perlman, Andrea Zanko, Ruth K Abramson, Anthony J Lechich, Ayana Duckett, Karen Marder, P Michael Conneally, James F Gusella, Marcy E MacDonald, Richard H Myers
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
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, Chien-Nan Lee
A novel mutation in STK11gene is associated with Peutz-Jeghers Syndrome in Indian patients
Nikita Thakur, D Nageshwar Reddy, G Venkat Rao, P Mohankrishna, Lalji Singh, Giriraj R Chandak
Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability
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, Colin NA Palmer, Jill P Pell, Stuart H Ralston, David St Clair, Frank Sullivan, Graham Watt, Roland Wolf, Alan Wright, David Porteous, Andrew D Morris
Contribution of germline BRCA1 and BRCA2sequence alterations to breast cancer in Northern India
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, Csilla I Szabo
Triglyceride associated polymorphisms of the APOA5gene have very different allele frequencies in Pune, India compared to Europeans
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, Andrew T Hattersley
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
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, Lidia Larizza
Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke
Ana VC Dutra, Hsiu-Fen Lin, Suh-Hang H Juo, Harvey Mohrenweiser, Souvik Sen, Raji P Grewal
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease
Maren Mai, Amer D Akkad, Stefan Wieczorek, Carsten Saft, Jürgen Andrich, Peter H Kraus, Jörg T Epplen, Larissa Arning
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
Lisbet K Lind, Christina Stecksén-Blicks, Kristina Lejon, Marcus Schmitt-Egenolf
Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis
Caitriona King, David E Barton
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report
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, Marc Abitbol
INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families
Darroch H Hall, Thahira Rahman, Peter J Avery, Bernard Keavney
A novel mutation in the SH3BP2 gene causes cherubism: case report
Cui-Ying Li, Shi-Feng Yu
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus
Michele Pinelli, Manuela Giacchetti, Fabio Acquaviva, Sergio Cocozza, Giovanna Donnarumma, Emanuela Lapice, Gabriele Riccardi, Geremia Romano, Olga Vaccaro, Antonella Monticelli
Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population
Moeenaldeen Al-Sayed, Faiqa Imtiaz, Osama A Alsmadi, Mohammed S Rashed, Brian F Meyer