Human Molecular Genetics

Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA
pp. 1195-1204(10)
Authors: Depinet, Theresa W.; Zackowski, Joleen L.; Earnshaw, William C.; Kaffe, Sara; Sekhon, Gurbax S.; Stallard, Richard; Sullivan, Beth A.; Vance, Gail H.; Van Dyke, Daniel L.; Willard, Huntington F.; Zinn, Arthur B.; Schwartz, Stuart

The Survival Motor Neuron Protein in Spinal Muscular Atrophy
pp. 1205-1214(10)
Authors: Coovert, Daniel D.; Le, Thanh T.; McAndrew, Patricia E.; Strasswimmer, John; Crawford, Thomas O.; Mendell, Jerry R.; Coulson, Susan E.; Androphy, Elliot J.; Prior, Thomas W.; Burghes, Arthur H. M.

Genomic and Mutational Analysis of the Mitochondrial Trifunctional Protein β-Subunit (HADHB) Gene in Patients with Trifunctional Protein Deficiency
pp. 1215-1224(10)
Authors: Orii, Kenji E.; Aoyama, Toshifumi; Wakui, Keiko; Fukushima, Yoshimitsu; Miyajima, Hiroaki; Yamaguchi, Seiji; Orii, Tadao; Kondo, Naomi; Hashimoto, Takashi

Characterization of Unconventional MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell's Waltzer Mice
pp. 1225-1231(7)
Authors: Avraham, Karen B.; Hasson, Tama; Sobe, Tama; Balsara, Binaifer; Testa, Joseph R.; Skvorak, Anne B.; Morton, Cynthia C.; Copeland, Neal G.; Jenkins, Nancy A.

Characterisation of Renal Chloride Channel, CLCN5, Mutations in Hypercalciuric Nephrolithiasis (Kidney Stones) Disorders
pp. 1233-1239(7)
Authors: Lloyd, Sarah E.; Günther, Willy; Pearce, Simon H.S.; Thomson, Amelia; Bianchi, Maria L.; Bosio, Maurizio; Craig, Ian W.; Fisher, Simon E.; Scheinman, Steven J.; Wrong, Oliver; Jentsch, Thomas J.; Thakker, Rajesh V.

Autism and Multiple Exostoses Associated with an X;8 Translocation Occurring Within the GRPR Gene and 3′ to the SDC2 Gene
pp. 1241-1250(10)
Authors: Ishikawa-Brush, Yumiko; Powell, John F.; Bolton, Patrick; Miller, Andrew P.; Francis, Fiona; Willard, Huntington F.; Lehrach, Hans; Monaco, Anthony P.

Behaviour of a Population of Partially Duplicated Mitochondrial DNA Molecules in Cell Culture: Segregation, Maintenance and Recombination Dependent Upon Nuclear Background
pp. 1251-1260(10)
Authors: Holt, I. J.; Dunbar, D. R.; Jacobs, H. T.

The Friedreich Ataxia GAA Triplet Repeat: Premutation and Normal Alleles
pp. 1261-1266(6)
Authors: Montermini, Laura; Andermann, Eva; Labuda, Margaret; Richter, Andrea; Pandolfo, Massimo; Cavalcanti, Francesca; Pianese, Luigi; Iodice, Luisa; Farina, Gerardina; Monticelli, Antonella; Turano, Mimmo; Filla, Alessandro; De Michele, Giuseppe; Cocozza, Sergio

Cloning, mRNA Distribution and Chromosomal Localisation of the Gene for Glial Cell Line-Derived Neurotrophic Factor Receptor β, a Homologue to GDNFR-α
pp. 1267-1273(7)
Authors: Suvanto, Petro; Wartiovaara, Kirmo; Lindahl, Maria; Arumäe, Urmas; Moshnyakov, Maxim; Horelli-Kuitunen, Nina; Airaksinen, Matti S.; Palotie, Aarno; Sariola, Hannu; Saarma, Mart

Insulin-Dependent Diabetes Mellitus (IDDM) Is Associated with CTLA4 Polymorphisms in Multiple Ethnic Groups
pp. 1275-1282(8)
Authors: Marron, Michele P.; Raffel, Leslie J.; Garchon, Henri-Jean; Jacob, Chaim O.; Serrano-Rios, Manuel; Martinez Larrad, Maria T.; Teng, Wei-Ping; Park, Yongsoo; Zhang, Zhi-Xing; Goldstein, Darlene R.; Tao, Yi-Wen; Beaurain, Genevieve; Bach, Jean-Francois; Huang, Hong-So; Luo, De-Fang; Zeidler, Adina; Rotter, Jerome I.; Yang, Mark C. K.; Modilevsky, Tamara; Maclaren, Noel K.; She, Jin-Xiong

Molecular Features of the CAG Repeats of Spinocerebellar Ataxia 6 (SCA6)
pp. 1283-1287(5)
Authors: Matsuyama, Zenjiro; Kawakami, Hideshi; Maruyama, Hirofumi; Izumi, Yuishin; Komure, Osamu; Udaka, Fukashi; Kameyama, Masakuni; Nishio, Takeshi; Kuroda, Yasuo; Nishimura, Masataka; Nakamura, Shigenobu

SCA6 is Caused by Moderate CAG Expansion in the α_1A-Voltage-Dependent Calcium Channel Gene
pp. 1289-1293(5)
Authors: Riess, Olaf; Schöls, Ludger; Böttger, Heike; Nolte, Dagmar; Vieira-Saecker, Ana Maria Menezes; Schimming, Carmen; Kreuz, Friedmar; Macek, Milan; Krebsová, Alice; Sen, Milan Macek; Klockgether, Thomas; Zühlke, Christine; Laccone, Franco A.

Generation of Novel Human MHC Class II Mutant B-Cell Lines by Integrating YAC DNA into a Cell Line Homozygously Deleted for the MHC Class II Region
pp. 1295-1304(10)
Authors: Fabb, Stewart A.; Davies, Angela F.; Correa, Isabel; Kelly, Adrian P.; Mackie, Caroline; Trowsdale, John; Ragoussis, Jiannis

Sequence Comparison of Human and Yeast Telomeres Identifies Structurally Distinct Subtelomeric Domains
pp. 1305-1314(10)
Authors: Flint, J.; Bates, G. P.; Clark, K.; Dorman, A.; Willingham, D.; Roe, B. A.; Micklem, G.; Higgs, D. R.; Louis, E. J.

Differential Expression of FMR1, FXR1 and FXR2 Proteins in Human Brain and Testis
pp. 1315-1322(8)
Authors: Tamanini, Filippo; Willemsen, Rob; van Unen, Leontine; Bontekoe, Carola; Galjaard, Hans; Oostra, Ben A.; Hoogeveen, André T.

XIST Expression from the Maternal X Chromosome in Human Male Preimplantation Embryos at the Blastocyst Stage
pp. 1323-1327(5)
Authors: Ray, Pierre F.; Winston, Robert M. L.; Handyside, Alan H.

Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q
pp. 1329-1334(6)
Authors: Elmslie, Frances V.; Rees, Michele; Williamson, Magali P.; Kerr, Michael; Kjeldsen, Marianne J.; An Pang, Kiang; Sundqvist, Anders; Friis, Mögens L.; Chadwick, David; Richens, Alan; Covanis, Athanasios; Santos, Manuela; Arzimanoglou, Alexis; Panayiotopoulos, Chrysostomos P.; Curtis, David; Whitehouse, William P.; Gardiner, R. Mark

Linkage Analysis of Candidate Regions for Coeliac Disease Genes
pp. 1335-1339(5)
Authors: Houlston, R. S.; Tomlinson, I. P. M.; Ford, D.; Seal, S.; Marossy, A. M.; Ferguson, A.; Holmes, G. K. T.; Hosie, K. B.; Howdle, P. D.; Jewell, D. P.; Godkin, A.; Kerr, G. D.; Kumar, P.; Logan, R. F. A.; Love, A. H. G.; Johnston, S.; Marsh, M. N.; Mitton, S.; O'Donoghue, D.; Roberts, A.; Walker-Smith, J. A.; Stratton, M. F.

PHOG, a Candidate Gene for Involvement in the Short Stature of Turner Syndrome
pp. 1341-1347(7)
Authors: Ellison, Jay W.; Wardak, Zabihullah; Young, Marian F.; Gehron Robey, Pamela; Laig-Webster, Marion; Chiong, Winston

Evidence for Two Psoriasis Susceptibility Loci (HLA and 17q) and Two Novel Candidate Regions (16q and 20p) by Genome-Wide Scan
pp. 1349-1356(8)
Authors: Nair, Rajan P.; Henseler, Tilo; Jenisch, Stefan; Stuart, Philip; Bichakjian, Christopher K.; Lenk, Winfried; Westphal, Eckhard; Guo, Sun-Wei; Christophers, Enno; Voorhees, John J.; Elder, James T.

A High Frequency African Coding Polymorphism in the N-Terminal Domain of ICAM-1 Predisposing to Cerebral Malaria in Kenya
pp. 1357-1360(4)
Authors: Fernandez-Reyes, D.; Craig, A. G.; Kyes, S. A.; Peshu, N.; Snow, R. W.; Berendt, A. R.; Marsh, K.; Newbold, C. I.

Transfection Screening for Primary Defects in the Pyruvate Dehydrogenase E1α Subunit Gene
pp. 1361-1367(7)
Authors: Brown, Ruth M.; Otero, Lucy J.; Brown, Garry K.

The Twist Gene, Although Not Disrupted In Saethre-Chotzen Patients With Apparently Balanced Translocations of 7p21, Is Mutated In Familial and Sporadic Cases
pp. 1369-1373(5)
Authors: Rose, C.S. P.; Patel, P.; Reardon, W.; Malcolm, S.; Winter, R. M.

Human Mini-Chromosomes in Mouse Embryonal Stem Cells
pp. 1375-1382(8)
Authors: Shen, M. H.; Yang, J.; Loupart, M.-L.; Smith, A.; Brown, W.

Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease
pp. 1383-1387(5)
Authors: Nelen, Marcel R.; van Staveren, Wilma C. G.; Peeters, Els A. J.; Ben Hassel, Mohammed; Gorlin, Robert J.; Hamm, Henning; Lindboe, Christian F.; Fryns, Jean-Pierre; Sijmons, Rolf H.; Woods, D. Geoffrey; Mariman, Edwin C. M.; Padberg, George W.; Kremer, Hannie