@article {Jacobs:1 March 2000:0964-6906:463, author = "Jacobs, Howard T.", author = "Holt, Ian J.", title = "The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "463-465(3)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00463" } @article {Borner:1 March 2000:0964-6906:467, author = "Borner, G. Valentin", author = "Zeviani, Massimo", author = "Tiranti, Valeria", author = "Carrara, Franco", author = "Hoffmann, Sabine", author = "Gerbitz, Klaus Dieter", author = "Lochmuller, Hanns", author = "Pongratz, Dieter", author = "Klopstock, Thomas", author = "Melberg, Atle", author = "Holme, Elisabeth", author = "Paabo, Svante", title = "Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "467-475(9)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00467" } @article {Prakash:1 March 2000:0964-6906:477, author = "Prakash, Siddharth K.", author = "Paylor, Richard", author = "Jenna, Sarah", author = "Lamarche-Vane, Nathalie", author = "Armstrong, Dawna L.", author = "Xu, Bisong", author = "Mancini, Michael A.", author = "Zoghbi, Huda Y.", title = "Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "477-488(12)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00477" } @article {Shaikh:1 March 2000:0964-6906:489, author = "Shaikh, Tamim H.", author = "Kurahashi, Hiroki", author = "Saitta, Sulagna C.", author = "O'Hare, Anna Mizrahy", author = "Hu, Ping", author = "Roe, Bruce A.", author = "Driscoll, Deborah A.", author = "McDonald-McGinn, Donna M.", author = "Zackai, Elaine H.", author = "Budarf, Marcia L.", author = "Emanuel, Beverly S.", title = "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "489-501(13)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00489" } @article {Wheeler:1 March 2000:0964-6906:503, author = "Wheeler, Vanessa C.", author = "White, Jacqueline K.", author = "Gutekunst, Claire-Anne", author = "Vrbanac, Vladimir", author = "Weaver, Meredith", author = "Li, Xiao-Jiang", author = "Li, Shi-Hua", author = "Yi, Hong", author = "Vonsattel, Jean-Paul", author = "Gusella, James F.", author = "Hersch, Steven", author = "Auerbach, Wojtek", author = "Joyner, Alexandra L.", author = "MacDonald, Marcy E.", title = "Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "503-513(11)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00503" } @article {Brown:1 March 2000:0964-6906:515, author = "Brown, Amanda Savage", author = "Feingold, Eleanor", author = "Broman, Karl W.", author = "Sherman, Stephanie L.", title = "Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "515-523(9)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00515" } @article {Craig:1 March 2000:0964-6906:525, author = "Craig, Alister", author = "Fernandez-Reyes, Delmiro", author = "Mesri, Mehdi", author = "McDowall, Alison", author = "Altieri, Dario C.", author = "Hogg, Nancy", author = "Newbold, Christopher", title = "A functional analysis of a natural variant of intercellular adhesion molecule-1 (ICAM-1Kilifi)", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "525-530(6)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00525" } @article {Zeiss:1 March 2000:0964-6906:531, author = "Zeiss, Caroline J.", author = "Ray, Kunal", author = "Acland, Gregory M.", author = "Aguirre, Gustavo D.", title = "Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3)", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "531-537(7)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00531" } @article {Berube:1 March 2000:0964-6906:539, author = "Berube, Nathalie G.", author = "Smeenk, Cecilia A.", author = "Picketts, David J.", title = "Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "539-547(9)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00539" } @article {Heinzmann:1 March 2000:0964-6906:549, author = "Heinzmann, A.", author = "Mao, X.-Q.", author = "Akaiwa, M.", author = "Kreomer, R.T.", author = "Gao, P.-S.", author = "Ohshima, K.", author = "Umeshita, R.", author = "Abe, Y.", author = "Braun, S.", author = "Yamashita, T.", author = "Roberts, M.H.", author = "Sugimoto, R.", author = "Arima, K.", author = "Arinobu, Y.", author = "Yu, B.", author = "Kruse, S.", author = "Enomoto, T.", author = "Dake, Y.", author = "Kawai, M.", author = "Shimazu, S.", author = "Sasaki, S.", author = "Adra, C.N.", author = "Kitaichi, M.", author = "Inoue, H.", author = "Yamauchi, K.", author = "Tomichi, N.", author = "Kurimoto, F.", author = "Hamasaki, N.", author = "Hopkin, J.M.", author = "Izuhara, K.", author = "Shirakawa, T.", author = "Deichmann, K.A.", title = "Genetic variants of IL-13 signalling and human asthma and atopy", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "549-559(11)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00549" } @article {Bauchwitz:1 March 2000:0964-6906:561, author = "Bauchwitz, Robert", author = "Costantini, Frank", title = "Developmentally distinct effects on human epsilon-, gamma- and delta-globin levels caused by the absence or altered position of the human beta-globin gene in YAC transgenic mice", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "561-574(14)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00561" } @article {Fleming:1 March 2000:0964-6906:575, author = "Fleming, Angeleen", author = "Copp, Andrew J.", title = "A genetic risk factor for mouse neural tube defects: defining the embryonic basis", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "575-581(7)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00575" } @article {Moshous:1 March 2000:0964-6906:583, author = "Moshous, Despina", author = "Li, Lanying", author = "Chasseval, Regina de", author = "Philippe, Noel", author = "Jabado, Nada", author = "Cowan, Morton J.", author = "Fischer, Alain", author = "Villartay, Jean-Pierre de", title = "A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "583-588(6)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00583" } @article {Gardner:1 March 2000:0964-6906:589, author = "Gardner, Rebecca J.", author = "Mackay, Deborah J.G.", author = "Mungall, Andrew J.", author = "Polychronakos, Constantin", author = "Siebert, Reiner", author = "Shield, Julian P.H.", author = "Temple, I. Karen", author = "Robinson, David O.", title = "An imprinted locus associated with transient neonatal diabetes mellitus", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "589-596(8)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00589" } @article {Kondo:1 March 2000:0964-6906:597, author = "Kondo, Tadashi", author = "Bobek, Miroslav P.", author = "Kuick, Rork", author = "Lamb, Barbara", author = "Zhu, Xiaoxiang", author = "Bourc'his, Deborah", author = "Viegas-Pequignot, Evani", author = "Ehrlich, Melanie", author = "Hanash, Samir M.", title = "Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "597-604(8)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00597" } @article {Groenen:1 March 2000:0964-6906:605, author = "Groenen, Patricia J.T.A.", author = "Wansink, Derick G.", author = "Coerwinkel, Marga", author = "van den Broek, Walther", author = "Jansen, Gert", author = "Wieringa, Be", title = "Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "605-616(12)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00605" } @article {Huertas:1 March 2000:0964-6906:617, author = "Huertas, Dori", author = "Howe, Steve", author = "McGuigan, Amanda", author = "Huxley, Clare", title = "Expression of the human CFTR gene from episomal oriP-EBNA1-YACs in mouse cells", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "617-629(13)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00617" } @article {Alami:1 March 2000:0964-6906:631, author = "Alami, Raouf", author = "Greally, John M.", author = "Tanimoto, Keiji", author = "Hwang, Steven", author = "Feng, Yong-Qing", author = "Engel, James D.", author = "Fiering, Steven", author = "Bouhassira, Eric E.", title = "beta-globin YAC transgenes exhibit uniform expression levels but position effect variegation in mice", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "631-636(6)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00631" } @article {Fonknechten:1 March 2000:0964-6906:637, author = "Fonknechten, Nuria", author = "Mavel, Delphine", author = "Byrne, Paula", author = "Davoine, Claire-Sophie", author = "Cruaud, Corinne", author = "Boentsch, Dominikus", author = "Samson, Delphine", author = "Coutinho, Paula", author = "Hutchinson, Michael", author = "Monagle, Paul Mc", author = "Burgunder, Jean-Marc", author = "Tartaglione, Antonio", author = "Heinzlef, Olivier", author = "Feki, Imed", author = "Deufel, Thomas", author = "Parfrey, Nollaig", author = "Brice, Alexis", author = "Fontaine, Bertrand", author = "Prud'homme, Jean-Francois", author = "Weissenbach, Jean", author = "Durr, Alexandra", author = "Hazan, Jamile", title = "Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "637-644(8)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00637" } @article {D'Cruz:1 March 2000:0964-6906:645, author = "D'Cruz, Patricia M.", author = "Yasumura, Douglas", author = "Weir, Jessica", author = "Matthes, Michael T.", author = "Abderrahim, Hadi", author = "LaVail, Matthew M.", author = "Vollrath, Douglas", title = "Mutation of the receptor tyrosine kinase gene Mertkin the retinal dystrophic RCS rat", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "645-651(7)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00645" } @article {Goodier:1 March 2000:0964-6906:653, author = "Goodier, John L.", author = "Ostertag, Eric M.", author = "Kazazian, Haig H.", title = "Transduction of 3-flanking sequences is common in L1 retrotransposition", journal = "Human Molecular Genetics", volume = "9", year = "1 March 2000", pages = "653-657(5)", url = {http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000004/art00653" }