@article {Miloloza:2000:0964-6906:1721, author = "Miloloza, Angelina and Rosner, Margit and Nellist, Mark and Halley, Dicky and Bernaschek, Gerhard and Hengstschlager, Markus", title = "The TSC1 gene product, hamartin, negatively regulates cell proliferation", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1721-1727", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01721" } @article {Anderson:2000:0964-6906:1729, author = "Anderson, David W. and Probst, FrankJ. and Belyantseva, InnaA. and Fridell, RobertA. and Beyer, Lisa and Martin, Donna M. and Wu, Doris and Kachar, Bechara and Friedman, Thomas B. and Raphael, Yehoash and Camper, Sally A.", title = "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1729-1738", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01729" } @article {Wilda:2000:0964-6906:1739, author = "Wilda, Monika and Demuth, Ilja and Concannon, Patrick and Sperling, Karl and Hameister, Horst", title = "Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1739-1744", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01739" } @article {Call:2000:0964-6906:1745, author = "Call, Linda M. and Moore, ClaraS. and Stetten, Gail and Gearhart, JohnD.", title = "A Cre-lox recombination system for the targeted integration of circular yeast artificial chromosomes into embryonic stem cells", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1745-1751", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01745" } @article {Hayes:2000:0964-6906:1753, author = "Hayes, Sean and Turecki, Gustavo and Brisebois, Kateri and Lopes-Cendes, Iscia and Gaspar, Claudia and Riess, Olaf and Ranum, Laura P.W. and Pulst, Stefan-M. and Rouleau, Guy A.", title = "CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1753-1758", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01753" } @article {Crawford:2000:0964-6906:1759, author = "Crawford, Dana C. and Zhang, Fuping and Wilson, Beth and Warren, Stephen T. and Sherman, StephanieL.", title = "Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1759-1769", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01759" } @article {Nissim-Rafinia:2000:0964-6906:1771, author = "Nissim-Rafinia, Malka and Chiba-Falek, Ornit and Sharon, Gil and Boss, Amarel and Kerem, Batsheva", title = "Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1771-1778", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01771" } @article {Kmoch:2000:0964-6906:1779, author = "Kmoch, Stanislav and Brynda, Jiri and Asfaw, Befekadu and Bezouka, Karel and Novak, Petr and Rezacova, Pavlina and Ondrova, Lenka and Filipec, Martin and Sedlacek, Juraj and Elleder, Milan", title = "Link between a novel human D-crystallin allele and a unique cataract phenotype explained by protein crystallography", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1779-1786", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01779" } @article {Guan:2000:0964-6906:1787, author = "Guan, Min-Xin and Fischel-Ghodsian, Nathan and Attardi, Giuseppe", title = "A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1787-1793", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01787" } @article {Wang:2000:0964-6906:1795, author = "Wang, Guang-hui and Sawai, Noriko and Kotliarova, Svetlana and Kanazawa, Ichiro and Nukina, Nobuyuki", title = "Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1795-1803", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01795" } @article {Cheng:2000:0964-6906:1805, author = "Cheng, Ngan Ching and van de Vrugt, HenriJ. and van der Valk, MartinA. and Oostra, AnnekeB. and Krimpenfort, Paul and deVries, Yne and Joenje, Hans and Berns, Anton and Arwert, Fre", title = "Mice with a targeted disruption of the Fanconi anemia homolog Fanca", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1805-1811", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01805" } @article {Lee:2000:0964-6906:1813, author = "Lee, Syann and Kozlov, Serguei and Hernandez, Lidia and Chamberlain, Stormy J. and Brannan, Camilynn I. and Stewart, Colin L. and Wevrick, Rachel", title = "Expression and imprinting of MAGEL2 suggest a role in PraderWilli syndrome and the homologous murine imprinting phenotype", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1813-1819", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01813" } @article {Ai:2000:0964-6906:1821, author = "Ai, Yunjun and Zheng, Zhong and OBrien-Jenkins, Ann and Bernard, DavidJ. and Wynshaw-Boris, Tony and Ning, Cong and Reynolds, Robert and Segal, Stanton and Huang, Kris and Stambolian, Dwight", title = "A mouse model of galactose-induced cataracts", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1821-1827", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01821" } @article {Paulsen:2000:0964-6906:1829, author = "Paulsen, Martina and El-Maarri, Osman and Engemann, Sabine and Strodicke, Martin and Franck, Olivia and Davies, Karen and Reinhardt, Richard and Reik, Wolf and Walter, Jorn", title = "Sequence conservation and variability of imprinting in the BeckwithWiedemann syndrome gene cluster in human and mouse", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1829-1841", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01829" } @article {Torrente:2000:0964-6906:1843, author = "Torrente, Y. and DAngelo, M.G. and Li, Z. and DelBo, R. and Corti, S. and Mericskay, M. and DeLiso, A. and Fassati, A. and Paulin, D. and Comi, G.P. and Scarlato, G. and Bresolin, N.", title = "Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1843-1852", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01843" } @article {Chrast:2000:0964-6906:1853, author = "Chrast, Roman and Scott, HamishS. and Madani, Rime and Huber, Lars and Wolfer, David P. and Prinz, Marco and Aguzzi, Adriano and Lipp, Hans-Peter and Antonarakis, StylianosE.", title = "Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1853-1864", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01853" } @article {Isaacs:2000:0964-6906:1865, author = "Isaacs, Adrian M. and Davies, KayE. and Hunter, A.Jackie and Nolan, PatrickM. and Vizor, Lucie and Peters, Jo and Gale, Davina G. and Kelsell, David P. and Latham, Ian D. and Chase, Jennifer M. and Fisher, Elizabeth M.C. and Bouzyk, Mark M. and Potter, Allyson and Masih, Mohan and Walsh, FrankS. and Sims, MatthewA. and Doncaster, KimE. and Parsons, ClaireA. and Martin, Jo and Brown, Steven D.M. and Rastan, Sohaila and Spurr, Nigel K. and Gray, Ian C.", title = "Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1865-1871", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01865" } @article {Grayson:2000:0964-6906:1873, author = "Grayson, Celene and Reid, SilviaN.M. and Ellis, JulietA. and Rutherford, Adam and Sowden, Jane C. and Yates, John R.W. and Farber, DeboraB. and Trump, Dorothy", title = "Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by WeriRb1 cells", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1873-1879", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01873" } @article {Han:2000:0964-6906:1881, author = "Han, Li-Ling and Keller, Marcel P. and Chance, Phillip F. and Arnheim, Norman", title = "Unequal exchange at the CharcotMarieTooth disease type 1A recombination hot-spot is not elevated above the genome average rate", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1881-1889", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01881" } @article {Yang:2000:0964-6906:1891, author = "Yang, J.W. and Pendon, C. and Yang, J. and Haywood, N. and Chand, A. and Brown, W.R.A.", title = "Human mini-chromosomes with minimal centromeres", journal = "Human Molecular Genetics", volume = "9", number = "12", year = "2000", pages = "1891-1902", url = "http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000012/art01891" }