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  1. Content type: Proceedings

    The Genetic Analysis Workshop 13 simulated data aimed to mimic the major features of the real Framingham Heart Study data that formed Problem 1, but under a known inheritance model and with 100 replicates, so ...

    Authors: E Warwick Daw, John Morrison, Xiaojun Zhou and Duncan C Thomas

    Citation: BMC Genetics 2003 4(Suppl 1):S3

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    This article is part of a Supplement: Volume 4 Supplement 1

  2. Content type: Research article

    Since the cloning in 1990 of cDNA corresponding to mRNA transcribed at the blood-group ABO locus, polymorphisms due to ethnic and/or phenotypic variations have been reported. Some subgroups have been explained...

    Authors: Bahram Hosseini-Maaf, Åsa Hellberg, Maria J Rodrigues, M Alan Chester and Martin L Olsson

    Citation: BMC Genetics 2003 4:17

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  3. Content type: Research article

    Anopheles gambiae females are the world's most successful vectors of human malaria. However, a fraction of these mosquitoes is refractory to Plasmodium development. L3-5, a laboratory selected refractory strain, ...

    Authors: Liangbiao Zheng, Shuang Wang, Patricia Romans, Hongyu Zhao, Coralia Luna and Mark Q Benedict

    Citation: BMC Genetics 2003 4:16

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  4. Content type: Research article

    World-wide phylogeographic distribution of human complete mitochondrial DNA sequences suggested a West Asian origin for the autochthonous North African lineage U6. We report here a more detailed analysis of th...

    Authors: Nicole Maca-Meyer, Ana M González, José Pestano, Carlos Flores, José M Larruga and Vicente M Cabrera

    Citation: BMC Genetics 2003 4:15

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  5. Content type: Research article

    Aberrant and non-functional RHD alleles are much more frequent in Africans than in Europeans. The DAU cluster of RHD alleles exemplifies that the alleles frequent in Africans have evaded recognition until recentl...

    Authors: Franz F Wagner, Joann M Moulds, Anatole Tounkara, Bourema Kouriba and Willy A Flegel

    Citation: BMC Genetics 2003 4:14

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  6. Content type: Research article

    SP-A, SP-B, and SP-D are pulmonary surfactant proteins. Several linkage and association studies have been done using these genes as markers to locate pulmonary disease susceptibility genes, but few have studie...

    Authors: Wenlei Liu, Christy M Bentley and Joanna Floros

    Citation: BMC Genetics 2003 4:13

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  7. Content type: Research article

    The ARE insertion/deletion polymorphism of PPP1R3A has been associated with variation in glycaemic parameters and prevalence of diabetes. We have investigated its role in age of diagnosis, body weight and glycaem...

    Authors: Alex SF Doney, Bettina Fischer, Joanne E Cecil, Patricia TW Cohen, Douglas I Boyle, Graham Leese, Andrew D Morris and Colin NA Palmer

    Citation: BMC Genetics 2003 4:11

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  8. Content type: Methodology article

    It has been reported in the quantitative trait locus (QTL) literature that when testing for QTL location and effect, the statistical power supporting methodologies based on two markers and their estimated gene...

    Authors: Cynthia J Coffman, RW Doerge, Marta L Wayne and Lauren M McIntyre

    Citation: BMC Genetics 2003 4:10

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  9. Content type: Research article

    Cul1 is a core component of the evolutionarily conserved SCF-type ubiquitin ligases that target specific proteins for destruction. SCF action contributes to cell cycle progression but few of the key targets of...

    Authors: Jean-Karim Hériché, Dan Ang, Ethan Bier and Patrick H O'Farrell

    Citation: BMC Genetics 2003 4:9

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  10. Content type: Research article

    Autosomal dominant optic atrophy type 1 (DOA) is the most common form of hereditary optic atrophy in human. We have previously identified the OPA1 gene and shown that it was mutated in patients with DOA. OPA1 is ...

    Authors: Cécile Delettre, Guy Lenaers, Pascale Belenguer and Christian P Hamel

    Citation: BMC Genetics 2003 4:8

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  11. Content type: Research article

    Triglyceride/HDL cholesterol ratio (TG/HDL-C) is considered as a risk factor for cardiovascular events. Genetic components were important in controlling the variation in western countries. But the mode of inhe...

    Authors: Kuo-Liong Chien, Hsiu-Ching Hsu, Ta-Chen Su, Chi-Yu Yang and Yuan-Teh Lee

    Citation: BMC Genetics 2003 4:7

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  12. Content type: Research article

    Mutations in the gene encoding human myocilin (MYOC) have been shown to cause juvenile- and adult-onset glaucoma. In addition, myocilin has been associated with glucocorticoid-induced ocular hypertension and ster...

    Authors: Allan R Shepard, Nasreen Jacobson, Ruifang Sui, H Thomas Steely, Andrew J Lotery, Edwin M Stone and Abbot F Clark

    Citation: BMC Genetics 2003 4:5

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  13. Content type: Research article

    Copper is an essential trace element that plays a critical role in the survival of all living organisms. Menkes disease and occipital horn syndrome (OHS) are allelic disorders of copper transport caused by def...

    Authors: Po-Ching Liu, David M Koeller and Stephen G Kaler

    Citation: BMC Genetics 2003 4:4

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  14. Content type: Research article

    Epstein-Barr virus (EBV) associated nasopharyngeal cancer (NPC) is an important squamous cell cancer endemic in Southeast Asia and the Far East and can be considered a multifactorial genetic disease. This rese...

    Authors: Rungnapa Hirunsatit, Narisorn Kongruttanachok, Kanjana Shotelersuk, Pakpoom Supiyaphun, Narin Voravud, Anavaj Sakuntabhai and Apiwat Mutirangura

    Citation: BMC Genetics 2003 4:3

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  15. Content type: Research article

    Differential methylation of the two alleles is a hallmark of imprinted genes. Correspondingly, loss of DNA methyltransferase function results in aberrant imprinting and abnormal post-fertilization development....

    Authors: B E Hayward, M De Vos, H Judson, D Hodge, J Huntriss, H M Picton, E Sheridan and DT Bonthron

    Citation: BMC Genetics 2003 4:2

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  16. Content type: Methodology article

    X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic chang...

    Authors: Valérie Faugère, Sylvie Tuffery-Giraud, Christian Hamel and Mireille Claustres

    Citation: BMC Genetics 2003 4:1

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  17. Content type: Research article

    The traditional exact method for inferring relationships between individuals from genetic data is not easily applicable in all situations that may be encountered in several fields of applied genetics. This stu...

    Authors: Silvano Presciuttini, Chiara Toni, Elena Tempestini, Simonetta Verdiani, Lucia Casarino, Isabella Spinetti, Francesco De Stefano, Ranieri Domenici and Joan E Bailey-Wilson

    Citation: BMC Genetics 2002 3:23

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  18. Content type: Research article

    Head and neck squamous cell carcinomas (HNSCC) have been causally associated with tobacco and alcohol exposure. However, 10–15% of HNSCC develop in absence of significant carcinogen exposure. Several lines of ...

    Authors: Bhuvanesh Singh, Volkert B Wreesmann, David Pfister, Ashok Poluri, Ashok R Shaha, Dennis Kraus, Jatin P Shah and Pulivarthi H Rao

    Citation: BMC Genetics 2002 3:22

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  19. Content type: Research article

    Variation at the PPARG locus may influence susceptibility to type 2 diabetes and related traits. The Pro12Ala polymorphism may modulate receptor activity and is associated with protection from type 2 diabetes. Ho...

    Authors: Alex Doney, Bettina Fischer, David Frew, Alastair Cumming, David M Flavell, Michael World, Hugh E Montgomery, Douglas Boyle, Andrew Morris and Colin NA Palmer

    Citation: BMC Genetics 2002 3:21

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  20. Content type: Research article

    In sporadic ovarian cancer, we have previously reported allele loss at D6S193 (62%) on chromosome 6q27, which suggested the presence of a putative tumour suppressor gene. Based on our data and that from another g...

    Authors: Ying Liu, Phillippa Dodds, Gracy Emilion, Andrew J Mungall, Ian Dunham, Stephan Beck, Spencer R Wells, L F Mark Charnock and Trivadi S Ganesan

    Citation: BMC Genetics 2002 3:20

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  21. Content type: Research article

    Recent studies of ancestral maize populations indicate that linkage disequilibrium tends to dissipate rapidly, sometimes within 100 bp. We set out to examine the linkage disequilibrium and diversity in maize e...

    Authors: Ada Ching, Katherine S Caldwell, Mark Jung, Maurine Dolan, Oscar S (Howie) Smith, Scott Tingey, Michele Morgante and Antoni J Rafalski

    Citation: BMC Genetics 2002 3:19

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  22. Content type: Research article

    Ciliates employ massive chromatid breakage and de novo telomere formation during generation of the somatic macronucleus. Positions flanking the 81-MAC locus are reproducibly cut. But those flanking the Common Reg...

    Authors: Kevin R Williams, Thomas G Doak and Glenn Herrick

    Citation: BMC Genetics 2002 3:16

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  23. Content type: Research article

    The COP9/signalosome (CSN), a multiprotein complex consisting of eight subunits, is implicated in a wide variety of regulatory processes including cell cycle control, signal transduction, transcriptional activ...

    Authors: Susan Wee, Bettina Hetfeld, Wolfgang Dubiel and Dieter A Wolf

    Citation: BMC Genetics 2002 3:41

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  24. Content type: Research article

    To support the positional cloning of the mouse mutation wobbler (wr ) the corresponding regions on human Chr2p13-14 and mouse Chr11 were analyzed in detail and compared with respect to gene content, order, and or...

    Authors: Sonja Fuchs, Karin Resch, Cora Thiel, Michael Ulbrich, Matthias Platzer, Harald Jockusch and Thomas Schmitt-John

    Citation: BMC Genetics 2002 3:40

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  25. Content type: Research article

    The Tnfrh1 gene (gene symbol Tnfrsf23) is located near one end of a megabase-scale imprinted region on mouse distal chromosome 7, about 350 kb distant from the nearest known imprinting control element. Within 20 ...

    Authors: Lorraine Clark, Michelle Wei, Giorgio Cattoretti, Cathy Mendelsohn and Benjamin Tycko

    Citation: BMC Genetics 2002 3:37

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  26. Content type: Research article

    A close association between Sst I polymorphism in the 3' untranslated region of the apolipoproteinC3 (APOC3 ) gene and levels of plasma triglycerides (TG) had been reported by different investigators. Hypertrigly...

    Authors: S Chhabra, R Narang, LR Krishnan, S Vasisht, DP Agarwal, LM Srivastava, SC Manchanda and N Das

    Citation: BMC Genetics 2002 3:9

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  27. Content type: Research article

    Pairs of related individuals are widely used in linkage analysis. Most of the tests for linkage analysis are based on statistics associated with identity by descent (IBD) data. The current biotechnology provid...

    Authors: Valeri T Stefanov

    Citation: BMC Genetics 2002 3:7

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  28. Content type: Research article

    Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a d...

    Authors: Asli N Silahtaroglu, Karen Brondum-Nielsen, Ole Gredal, Lene Werdelin, Marios Panas, Michael B Petersen, Niels Tommerup and Zeynep Tümer

    Citation: BMC Genetics 2002 3:5

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  29. Content type: Research article

    The Mitotic Exit Network (MEN) proteins – including the protein kinase Cdc15 and the protein phosphatase Cdc14 – are essential for exit from mitosis in Saccharomyces cerevisiae. To identify downstream targets of ...

    Authors: Wenying Shou and Raymond J Deshaies

    Citation: BMC Genetics 2002 3:4

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  30. Content type: Research article

    To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive o...

    Authors: Elizabeth C Engle, Nathalie McIntosh, Koki Yamada, Bjorn A Lee, Roger Johnson, Michael O'Keefe, Robert Letson, Arnold London, Evan Ballard, Mark Ruttum, Naomichi Matsumoto, Nakamichi Saito, Mary Louise Z Collins, Lisa Morris, Del Monte Monte, Adriano Magli…

    Citation: BMC Genetics 2002 3:3

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  31. Content type: Research article

    The metalloprotease-disintegrin family, or ADAM, proteins, are implicated in cell-cell interactions, cell fusion, and cell signaling, and are widely distributed among metazoan phyla. Orthologous relationships ...

    Authors: Teresa M Gunn, Arezou Azarani, Philip H Kim, Richard W Hyman, Ronald W Davis and Gregory S Barsh

    Citation: BMC Genetics 2002 3:2

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  32. Content type: Research article

    Polymorphisms in the gene that encodes the human cellular receptor for group B coxsackieviruses and adenoviruses (HCAR) could be responsible for differences in susceptibility to infections with these pathogens...

    Authors: Inge Thoelen, Griet Duson, Elke Wollants and Marc Van Ranst

    Citation: BMC Genetics 2002 3:27

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  33. Content type: Research article

    Proximal chromosome 15q is implicated in neurodevelopmental disorders including Prader-Willi and Angelman syndromes, autistic disorder and developmental abnormalities resulting from chromosomal deletions or du...

    Authors: Thea K Chibuk, Jocelyn M Bischof and Rachel Wevrick

    Citation: BMC Genetics 2001 2:22

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  34. Content type: Research article

    Recent progress in insect transgenesis has been dramatic but existing transposon-based approaches are constrained by position effects and potential instability. Gene targeting would bring a number of benefits,...

    Authors: Paul Eggleston and Yuguang Zhao

    Citation: BMC Genetics 2001 2:21

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  35. Content type: Research article

    The NUP98 gene is involved in multiple rearrangements in haematological malignancy. The leukemic cells in an acute myeloid leukemia (AML) patient with a t(9;11)(p22;p15) were recently shown to have a fusion betwe...

    Authors: Damian J Hussey, Sarah Moore, Mario Nicola and Alexander Dobrovic

    Citation: BMC Genetics 2001 2:20

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  36. Content type: Methodology article

    R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature trypsin activation within the pancreas....

    Authors: Cedric Le Maréchal, Jian-Min Chen, Isabelle Quéré, Odile Raguénès, Claude Férec and Jean Auroux

    Citation: BMC Genetics 2001 2:19

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  37. Content type: Research article

    Glaucoma is a blinding disease usually associated with high intraocular pressure (IOP). In some families, abnormal anterior segment development contributes to glaucoma. The genes causing anterior segment dysge...

    Authors: Bo Chang, Richard S Smith, Maureen Peters, Olga V Savinova, Norman L Hawes, Adriana Zabaleta, Steven Nusinowitz, Janice E Martin, Muriel L Davisson, Constance L Cepko, Brigid LM Hogan and Simon WM John

    Citation: BMC Genetics 2001 2:18

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  38. Content type: Research article

    Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular Dystrophy (DMD) yielding 65% of causat...

    Authors: Richard R Bennett, Johan den Dunnen, Kristine F O'Brien, Basil T Darras and Louis M Kunkel

    Citation: BMC Genetics 2001 2:17

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  39. Content type: Research article

    Two common southern African mice species, Mastomys coucha and M. natalensis, are widely distributed throughout the subregion and overlap in many areas. They also share a high degree of morphological similarity, m...

    Authors: Andre A Smit and Herman FH Van der Bank

    Citation: BMC Genetics 2001 2:15

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  40. Content type: Research article

    Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI) in a short poly-adenine re...

    Authors: George Calin, Guglielmina N Ranzani, Dino Amadori, Vlad Herlea, Irina Matei, Giuseppe Barbanti-Brodano and Massimo Negrini

    Citation: BMC Genetics 2001 2:14

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