Human Molecular Genetics

Characterisation of Expression of mDMAHP, a Homeodomain-Encoding Gene at the Murine DM Locus
pp. 651-657(7)
Authors: Heath, Stephanie K.; Carne, Simon; Hoyle, Christine; Johnson, Keith J.; Wells, Dominic J.

Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)
pp. 659-664(6)
Authors: Morell, R.; Spritz, R. A.; Ho, L.; Pierpont, J.; Guo, W.; Friedman, T. B.; Asher, J. H.

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2
pp. 665-668(4)
Authors: Litt, Michael; Carrero-Valenzuela, Roque; LaMorticella, Dante M.; Schultz, Dennis W.; Mitchell, Thomas N.; Kramer, Patricia; Maumenee, Irene H.

Homozygous α6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia
pp. 669-674(6)
Authors: Pulkkinen, Leena; Kimonis, Virginia E.; Xu, Yili; Spanou, Elena N.; McLean, W. H. Irwin; Uitto, Jouni

Structure and Sequence Variation at the Human Leptin Receptor Gene in Lean and Obese Pima Indians
pp. 675-679(5)
Authors: Bruce Thompson, D.; Ravussin, Eric; Bennett, Peter H.; Bogardus, Clifton

Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts
pp. 681-688(8)
Authors: Nguyen, H. Bryant; Estacion, Mark; Gargus, J. Jay

Homozygosity Mapping of Achromatopsia to Chromosome 2 Using DNA Pooling
pp. 689-694(6)
Authors: Arbour, Nancy C.; Zlotogora, Joel; Knowlton, Robert G.; Merin, Saul; Rosenmann, Ada; Kanis, Adam B.; Rokhlina, Tatiana; Stone, Edwin M.; Sheffield, Val C.

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?
pp. 695-707(13)
Authors: Andresen, Brage Storstein; Bross, Peter; Udvari, Szabolcs; Kirk, Jean; Gray, George; Kmoch, Stanislav; Chamoles, Nestor; Knudsen, Inga; Winter, Vibeke; Wilcken, Bridget; Yokota, Ichiro; Hart, Kimberly; Packman, Seymour; Harpey, Jean Paul; Saudubray, Jean Marie; Hale, Daniel E.; Bolund, Lars; Kølvraa, Steen; Gregersen, Niels

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families
pp. 709-715(7)
Authors: Cancel, Géraldine; Dürr, Alexandra; Didierjean, Olivier; Imbert, Georges; Bürk, Katrin; Lezin, Agnès; Belal, Samir; Benomar, Ali; Abada-Bendib, Myriem; Vial, Christophe; Guimarães, João; Chneiweiss, Hervé; Stevanin, Giovanni; Yvert, Gael; Abbas, Nacer; Saudou, Frédéric; Lebre, Anne-Sophie; Yahyaoui, Mohamed; Hentati, Fayçal; Vernant, Jean-Claude; Klockgether, Thomas; Mandel, Jean-Louis; Agid, Yves; Brice, Alexis

α-Mannosidosis:Functional Cloning of the Lysosomal α-Mannosidase cDNA and Identification of a Mutation in Two Affected Siblings
pp. 717-726(10)
Authors: Nilssen, Øivind; Berg, Thomas; Riise, Hilde M. F.; Ramachandran, Umayal; Evjen, Gry; Hansen, Gaute M.; Malm, Dag; Tranebjaerg, Lisbeth; Tollersrud, Ole K.

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1
pp. 727-737(11)
Authors: Dixon, Jill; Hovanes, Karine; Shiang, Rita; Dixon, Michael J.

Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene
pp. 739-745(7)
Authors: Pomponio, Robert J.; Reynolds, Thomas R.; Mandel, Hanna; Admoni, Osnat; Melone, Pamela D.; Buck, Gregory A.; Wolf, Barry

Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin α2-Chain
pp. 747-752(6)
Authors: Allamand, Valérie; Sunada, Yoshihide; Salih, Mustafa A. M.; Straub, Volker; Ozo, O.; Al-Turaiki, M. H. S.; Akbar, Maksood; Kolo, Timo; Colognato, Holly; Zhang, Xu; Sorokin, Lydia M.; Yurchenco, Peter D.; Tryggvason, Karl; Campbell, Kevin P.

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor ε Subunit Gene: Identification and Functional Characterization of Six New Mutations
pp. 753-766(14)
Authors: Ohno, Kinji; Quiram, Polly A.; Milone, Margherita; Wang, Hai-Long; Harper, Michel C.; Ned Pruitt, J.; Brengman, Joan M.; Pao, Linda; Fischbeck, Kenneth H.; Crawford, Thomas O.; Sine, Steven M.; Engel, Andrew G.

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome
pp. 767-774(8)
Authors: Croxen, Rebecca; Newland, Claire; Beeson, David; Oosterhuis, Hans; Chauplannaz, Guy; Vincent, Angela; Newsom-Davis, John

Reduced Penetrance of the Huntington's Disease Mutation
pp. 775-779(5)
Authors: McNeil, Sandra M.; Novelletto, Andrea; Srinidhi, Jayalakshmi; Barnes, Glenn; Kornbluth, Ira; Altherr, Michael R.; Wasmuth, John J.; Gusella, James F.; MacDonald, Marcy E.; Myers, Richard H.

Human PEG1/MEST, an Imprinted Gene on Chromosome 7
pp. 781-786(6)
Authors: Kobayashi, Shin; Kohda, Takashi; Miyoshi, Naoki; Kuroiwa, Yoshimi; Aisaka, Kohzo; Tsutsumi, Osamu; Kaneko-Ishino, Tomoko; Ishino, Fumitoshi

Molecular Defects in Sanfilippo Syndrome Type A
pp. 787-791(5)
Authors: Blanch, Lianne; Weber, Birgit; Guo, Xiao-Hui; Scott, Hamish S.; Hopwood, John J.

Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare `AT-AC' Intron
pp. 793-797(5)
Authors: Feng, Guo Hong; Bailin, Tu; Oh, Jangsuk; Spritz, Richard A.

Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees
pp. 799-803(5)
Authors: Heyer, Evelyne; Puymirat, Jack; Dieltjes, Patrick; Bakker, Egbert; de Knijff, Peter

Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic Mutations
pp. 805-811(7)
Authors: Wollnik, Bernd; Kubisch, Christian; Steinmeyer, Klaus; Pusch, Michael

Identification of a Major Susceptibility Locus on Chromosome 6p and Evidence for Further Disease Loci Revealed by a Two Stage Genome-Wide Search in Psoriasis
pp. 813-820(8)
Authors: Trembath, Richard C.; Lee Clough, R.; Rosbotham, Jane L.; Jones, Andrew B.; Camp, Richard D. R.; Frodsham, Angela; Browne, Julie; Barber, Ruth; Terwilliger, Joseph; Mark Lathrop, G.; Barker, Jonathan N. W. N.

Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)
pp. 821-825(5)
Authors: Hahnen, Eric; Schönling, Jutta; Rudnik-Schöneborn, Sabine; Raschke, Heidrun; Zerres, Klaus; Wirth, Brunhilde

Analysis of Molecular Variance (AMOVA) of Y—Chromosome—Specific Microsatellites in Two Closely Related Human Populations
pp. 828-828(1)
Authors: Roewer, L.; Kayser, M.; Dieltjes, P.; Nagy, M.; Bakker, E.; Krawczak, M.; de Knijff, P.