Human Molecular Genetics

Murine Mucopolysaccharidosis Type I: Targeted Disruption of the Murine α-l-Iduronidase Gene
pp. 503-511(9)
Authors: Clarke, Lorne A.; Russell, Christopher S.; Pownall, Scott; Warrington, Cara L.; Borowski, Anita; Dimmick, James E.; Toone, Jennifer; Jirik, Frank R.

Identification of a Self-Association Region Within the SCA1 Gene Product, Ataxin-1
pp. 513-518(6)
Authors: Burright, Eric N.; Davidson, Jennifer D.; Duvick, Lisa A.; Koshy, Beena; Zoghbi, Huda Y.; Orr, Harry T.

Inhibition of Fibrillin 1 Expression Using U1 snRNA as a Vehicle for the Presentation of Antisense Targeting Sequence
pp. 519-525(7)
Authors: Montgomery, Robert A.; Dietz, Harry C.

Co-Ordinate Regulation of the Cystic Fibrosis and Multidrug Resistance Genes in Cystic Fibrosis Knockout Mice
pp. 527-537(11)
Authors: Trezise, Ann E. O.; Ratcliff, Rosemary; Hawkins, Tim E.; Evans, Martin J.; Freeman, Tom C.; Romano, Pascale R.; Higgins, Christopher F.; Colledge, William H.

Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)
pp. 539-549(11)
Authors: Rowe, Peter S. N.; Oudet, Claudine L.; Francis, Fiona; Sinding, Christiane; Pannetier, Solange; Econs, Mike J.; Strom, Tim M.; Meitinger, Thomas; Garabedian, Michele; David, Albert; Macher, Marie-Alice; Questiaux, Elisabeth; Popowska, Ewa; Pronicka, Ewa; Read, Andrew P.; Mokrzycki, Agnes; Glorieux, Francis H.; Drezner, Marc K.; Hanauer, Andre; Lehrach, Hans; Goulding, Johnathan N.; O'Riordan, Jeffrey L. H.

Tumour Necrosis Factor Haplotypes and Asthma
pp. 551-554(4)
Authors: Moffatt, Miriam F.; Cookson, William O. C. M.

Linkage and Physical Mapping of X-Linked Lissencephaly/SBH (XLIS): A Gene Causing Neuronal Migration Defects in Human Brain
pp. 555-562(8)
Authors: Ross, M. Elizabeth; Allen, Kristina M.; Srivastava, Anand K.; Featherstone, Terry; Gleeson, Joseph G.; Hirsch, Betsy; Harding, Brian N.; Andermann, Eva; Abdullah, Rabi; Berg, Michael; Czapansky-Bielman, Desireé; Flanders, Dean J.; Guerrini, Renzo; Motté, Jacques; Mira, A. Puche; Scheffer, Ingrid; Berkovic, Samuel; Scaravilli, F.; King, Richard A.; Ledbetter, David H.; Schlessinger, David; Dobyns, William B.; Walsh, Christopher A.

Iraqi-Jewish Kindreds with Optic Atrophy Plus (3-Methylglutaconic Aciduria Type 3) Demonstrate Linkage Disequilibrium with the CTG Repeat in the 3′ Untranslated Region of the Myotonic Dystrophy Protein Kinase Gene
pp. 563-569(7)
Authors: Nystuen, Arne; Costeff, Hanan; Elpeleg, Orly N.; Apter, Naomi; Bonné-Tamir, Batsheva; Mohrenweiser, Harvey; Haider, Neena; Stone, Edwin M.; Sheffield, Val C.

Analysis of the Steroidogenic Acute Regulatory Protein (StAR) Gene in Japanese Patients with Congenital Lipoid Adrenal Hyperplasia
pp. 571-576(6)
Authors: Nakae, Jun; Tajima, Toshihiro; Sugawara, Teruo; Arakane, Futoshi; Hanaki, Keiichi; Hotsubo, Tomoyuki; Igarashi, Noboru; Igarashi, Yutaka; Ishii, Tadashi; Koda, Naoya; Kondo, Takuma; Kohno, Hitoshi; Nakagawa, Yuichi; Tachibana, Katsuhiko; Takeshima, Yasuhiro; Tsubouchi, Kohji; Strauss, Jerome F.; Fujieda, Kenji

A Functional Polymorphism in the Promoter Region of the Dopamine D2 Receptor Gene Is Associated with Schizophrenia
pp. 577-582(6)
Authors: Arinami, Tadao; Gao, Ming; Hamaguchi, Hideo; Toru, Michio

Identification of Nine Novel Mutations in the Hepatocyte Nuclear Factor 1 Alpha Aene Associated with Maturity-Onset Diabetes of the Young (MODY3)
pp. 583-586(4)
Authors: Vaxillaire, Martine; Rouard, Mathias; Yamagata, Kazuya; Oda, Naohisa; Kaisaki, Pamela J.; Boriraj, V. Vicky; Chevre, Jean-Claude; Boccio, Valérie; Cox, Roger D.; Lathrop, G. Mark; Dussoix, Philippe; Philippe, Jacques; Timsit, José; Charpentier, Guillaume; Velho, Gilberto; Bell, Graeme I.; Froguel, Philippe

A Duplication of 12 bp in the Critical Cysteine Rich Domain of the RET Proto-Oncogene Results in a Distinct Phenotype of Multiple Endocrine Neoplasia Type 2A
pp. 587-587(1)
Authors: Höppner, Wolfgang; Ritter, Michael M.

Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21-23
pp. 591-595(5)
Authors: Sharp, J. D.; Wheeler, R. B.; Lake, B. D.; Savukoski, M.; Järvelä, I. E.; Peltonen, L.; Gardiner, R. M.; Williams, R. E.

Localisation of a Gene for Dominant Cone-Rod Dystrophy (CORD6) to Chromosome 17p
pp. 597-600(4)
Authors: Kelsell, Rosemary E.; Evans, Kevin; Gregory, Cheryl Y.; Moore, Anthony T.; Bird, Alan C.; Hunt, David M.

Identification of the Syrian Hamster Cardiomyopathy Gene
pp. 601-607(7)
Authors: Nigro, Vincenzo; Okazaki, Yasushi; Belsito, Angela; Piluso, Giulio; Matsuda, Yoichi; Politano, Luisa; Nigro, Giovanni; Ventura, Carlo; Abbondanza, Ciro; Molinari, Anna Maria; Acampora, Dario; Nishimura, Masahiko; Hayashizaki, Yoshihide; Puca, Giovanni Alfredo

Location of the First Genetic Locus, PKDr1, Controlling Autosomal Dominant Polycystic Kidney Disease in Han:SPRD cy/+ rat
pp. 609-613(5)
Authors: Bihoreau, Marie-Thérèse; Ceccherini, Isabella; Browne, Julie; Kränzlin, Betina; Romeo, Giovanni; Lathrop, G. Mark; James, Michael R.; Gretz, Norbert

Identification of the Gene Encoding the Human Mitochondrial RNA Polymerase (h-mtRPOL) by Cyberscreening of the Expressed Sequence Tags Database
pp. 615-625(11)
Authors: Tiranti, Valeria; Savoia, Anna; Forti, Francesca; D'Apolito, Maria-Felicia; Centra, Marta; Rocchi, Mariano; Zeviani, Massimo

Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome
pp. 627-633(7)
Authors: Lagerstedt, Kristina; Karsten, Stanislav L.; Carlberg, Britt-Marie; Kleijer, Wim J.; Tönnesen, Tönne; Pettersson, Ulf; Bondeson, Marie-Louise

Mapping of the Familial Infantile Myasthenia (Congenital Myasthenic Syndrome Type Ia) Gene to Chromosome 17p with Evidence of Genetic Homogeneity
pp. 635-640(6)
Authors: Christodoulou, Kyproula; Tsingis, Marios; Deymeer, Feza; Serdaroglu, Piraye; Ozdemir, Coskun; Al-Shehab, Ahmad; Bairactaris, Chrysostomos; Mavromatis, Ioannis; Mylonas, Ioannis; Evoli, Amelia; Kyriallis, Kyriacos; Middleton, Lefkos T.

Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21
pp. 641-647(7)
Authors: Stoilov, Ivaylo; Akarsu, A. Nurten; Sarfarazi, Mansoor