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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. The phylogeographic distribution of human mitochondrial DNA variations allows a genetic approach to the study of modern Homo sapiens dispersals throughout the world from a female perspective. As a new contributio...

    Authors: Nicole Maca-Meyer, Ana M González, José M Larruga, Carlos Flores and Vicente M Cabrera
    Citation: BMC Genetics 2001 2:13
  10. Little is known about genetic factors affecting intraocular pressure (IOP) in mice and other mammals. The purpose of this study was to determine the IOPs of genetically distinct mouse strains, assess the effec...

    Authors: Olga V Savinova, Fumihiro Sugiyama, Janice E Martin, Stanislav I Tomarev, Beverly J Paigen, Richard S Smith and Simon WM John
    Citation: BMC Genetics 2001 2:12
  11. Blood group genotyping is increasingly utilized for prenatal diagnosis and after recent transfusions, but still lacks the specificity of serology. In whites, the presence of antigen D is predicted, if two or m...

    Authors: Franz F Wagner, Alexander Frohmajer and Willy A Flegel
    Citation: BMC Genetics 2001 2:10
  12. Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease...

    Authors: Natacha Dreumont, Jacques A Poudrier, Anne Bergeron, Harvey L Levy, Faouzi Baklouti and Robert M Tanguay
    Citation: BMC Genetics 2001 2:9
  13. Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...

    Authors: Yuji Mizuno, Annibale A Puca, Kristine F O'Brien, Alan H Beggs and Louis M Kunkel
    Citation: BMC Genetics 2001 2:8
  14. An A54T polymorphism at the fatty acid binding protein 2 (FABP2) locus was found to be associated with insulin resistance in non-diabetic Pima Indians. To see whether this association is present in other popul...

    Authors: Ken C Chiu, Lee-Ming Chuang and Carol Yoon
    Citation: BMC Genetics 2001 2:7
  15. The association between the human cytotoxic T lymphocyte-associated antigen-4 (CTLA4) gene and insulin-dependent diabetes mellitus (IDDM) is unclear in populations. We therefore investigated whether the gene c...

    Authors: Dimitry A Chistiakov, Kirill V Savost'anov and Valery V Nosikov
    Citation: BMC Genetics 2001 2:6
  16. Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrop...

    Authors: Kristine F O'Brien, Elizabeth C Engle and Louis M Kunkel
    Citation: BMC Genetics 2001 2:3
  17. Rab GTPases are regulators of intracellular membrane traffic. The Rab27 subfamily consists of Rab27a and Rab27b. Rab27a has been recently implicated in Griscelli Disease, a disease combining partial albinism w...

    Authors: José S Ramalho, Tanya Tolmachova, Alistair N Hume, Amanda McGuigan, Cheryl Y Gregory-Evans, Clare Huxley and Miguel C Seabra
    Citation: BMC Genetics 2001 2:2
  18. Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often associated with elevated intraocular pressure. Identif...

    Authors: Michael G Anderson, Richard S Smith, Olga V Savinova, Norman L Hawes, Bo Chang, Adriana Zabaleta, Robert Wilpan, John R Heckenlively, Muriel Davisson and Simon WM John
    Citation: BMC Genetics 2001 2:1
  19. The family of Fragile X Mental Retardation Proteins is composed of three members: Fragile Mental Retardation 1, Fragile X Related 1 and X Related 2 proteins. These proteins are associated with mRNPs within tra...

    Authors: Marthe Dubé, Marc-Etienne Huot and Edouard W Khandjian
    Citation: BMC Genetics 2000 1:4
  20. The role of glucokinase (GCK) in the pathogenesis of maturity-onset diabetes of the young is well established. However, its role in the common form of type 2 diabetes is far from convincing. We investigated th...

    Authors: Ken C Chiu, Lee-Ming Chuang, Carol Yoon and Mohammad F Saad
    Citation: BMC Genetics 2000 1:2
  21. Versatile transgenic manipulation of skeletal muscle requires knowledge of the expression profiles of diverse promoter/enhancer elements in the transcriptionally specialized fiber types of which muscle is comp...

    Authors: Patricia L. Hallauer and Kenneth E.M. Hastings
    Citation: BMC Genetics 2000 1:1

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