@article {Geurts:1 September 2000:0964-6906:2067, author = "Geurts, Jan M.W.", author = "Janssen, RobG.J.H.", author = "van, MarleenM.J.", author = "van, Carla J.H.", author = "Cantor, RitaM.", author = "Bu, Xiang-dong", author = "Aouizerat, Bradley E.", author = "Allayee, Hooman", author = "Rotter, Jerome I.", author = "de, Tjerk W.A.", title = "Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2067-2074(8)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02067" } @article {Horike:1 September 2000:0964-6906:2075, author = "Horike, Shin-ichi", author = "Mitsuya, Kohzoh", author = "Meguro, Makiko", author = "Kotobuki, Noriko", author = "Kashiwagi, Akiko", author = "Notsu, Tomomi", author = "Schulz, ThomasC.", author = "Shirayoshi, Yasuaki", author = "Oshimura, Mitsuo", title = "Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2075-2083(9)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02075" } @article {Boylan:1 September 2000:0964-6906:2085, author = "Boylan, James P.", author = "Wright, AlanF.", title = "Identification of a novel protein interacting with RPGR", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2085-2093(9)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02085" } @article {Roepman:1 September 2000:0964-6906:2095, author = "Roepman, Ronald", author = "Bernoud-Hubac, Nathalie", author = "Schick, Diana E.", author = "Maugeri, Alessandra", author = "Berger, Wolfgang", author = "Ropers, Hans-Hilger", author = "Cremers, Frans P.M.", author = "Ferreira, PauloA.", title = "The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2095-2105(11)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02095" } @article {Kohl:1 September 2000:0964-6906:2107, author = "Kohl, Susanne", author = "Baumann, Britta", author = "Broghammer, Martina", author = "Jagle, Herbert", author = "Sieving, Paul", author = "Kellner, Ulrich", author = "Spegal, Robert", author = "Anastasi, Mario", author = "Zrenner, Eberhart", author = "Sharpe, Lindsay T.", author = "Wissinger, Bernd", title = "Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2107-2116(10)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02107" } @article {Elliott:1 September 2000:0964-6906:2117, author = "Elliott, David J.", author = "Venables, JulianP.", author = "Newton, ChristopherS.", author = "Lawson, Diane", author = "Boyle, Shelagh", author = "Eperon, Ian C.", author = "Cooke, Howard J.", title = "An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2117-2124(8)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02117" } @article {Moseley:1 September 2000:0964-6906:2125, author = "Moseley, Melinda L.", author = "Schut, LawrenceJ.", author = "Bird, Thomas D.", author = "Day, ,John W.", author = "Ranum, Laura P.W.", title = "SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2125-2130(6)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02125" } @article {Kozlowski:1 September 2000:0964-6906:2131, author = "Kozlowski, Kathy", author = "Walter, Michael A.", title = "Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2131-2139(9)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02131" } @article {Hauser:1 September 2000:0964-6906:2141, author = "Hauser, Michael A.", author = "Horrigan, StephenK.", author = "Salmikangas, Paula", author = "Torian, UdanaM.", author = "Viles, Kristi D.", author = "Dancel, Ria", author = "Tim, RichardW.", author = "Taivainen, Anu", author = "Bartoloni, Luria", author = "Gilchrist, James M.", author = "Stajich, JeffreyM.", author = "Gaskell, P.Craig", author = "Gilbert, JohnR.", author = "Vance, JeffreyM.", author = "Pericak-Vance, MargaretA.", author = "Carpen, Olli", author = "Westbrook, Carol A.", author = "Speer, Marcy C.", title = "Myotilin is mutated in limb girdle muscular dystrophy 1A", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2141-2147(7)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02141" } @article {Fakhrai-Rad:1 September 2000:0964-6906:2149, author = "Fakhrai-Rad, Hossein", author = "Nikoshkov, Andrej", author = "Kamel, Ashraf", author = "Fernstrom, Maria", author = "Zierath, Juleen R.", author = "Norgren, Svante", author = "Luthman, Holger", author = "Galli, Joakim", title = "Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2149-2158(10)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02149" } @article {Race:1 September 2000:0964-6906:2159, author = "Race, Valerie", author = "Marie, Sandrine", author = "Vincent, Marie-Francoise", author = "Vanden Berghe, Georges", title = "Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2159-2165(7)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02159" } @article {Lam:1 September 2000:0964-6906:2167, author = "Lam, L.T.", author = "Pham, Y.C.N.", author = "Man, Nguyenthi", author = "Morris, G.E.", title = "Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2167-2173(7)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02167" } @article {Passani:1 September 2000:0964-6906:2175, author = "Passani, Lucius A.", author = "Bedford, MarkT.", author = "Faber, PeterW.", author = "McGinnis, Kim M.", author = "Sharp, AlanH.", author = "Gusella, JamesF.", author = "Vonsattel, Jean-Paul", author = "MacDonald, Marcy E.", title = "Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2175-2182(8)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02175" } @article {Kerjean:1 September 2000:0964-6906:2183, author = "Kerjean, Antoine", author = "Dupont, Jean-Michel", author = "Vasseur, Christian", author = "Le, Dominique", author = "Cuisset, Laurence", author = "Paldi, Andras", author = "Jouannet, Pierre", author = "Jeanpierre, Marc", title = "Establishment of the paternal methylation imprint of the human H19 and MESTPEG1 genes during spermatogenesis", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2183-2187(5)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02183" } @article {Ernest:1 September 2000:0964-6906:2189, author = "Ernest, Sylvain", author = "Rauch, Gerd-Jorg", author = "Haffter, Pascal", author = "Geisler, Robert", author = "Petit, Christine", author = "Nicolson, Teresa", title = "Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2189-2196(8)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02189" } @article {McCampbell:1 September 2000:0964-6906:2197, author = "McCampbell, Alexander", author = "Taylor, J.Paul", author = "Taye, AddisA.", author = "Robitschek, Jon", author = "Li, Mei", author = "Walcott, Jessica", author = "Merry, Diane", author = "Chai, Yaohui", author = "Paulson, Henry", author = "Sobue, Gen", author = "Fischbeck, Kenneth H.", title = "CREB-binding protein sequestration by expanded polyglutamine", journal = "Human Molecular Genetics", volume = "9", year = "1 September 2000", pages = "2197-2202(6)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014/art02197" }