Hum. Mol. Genet. -- Table of Contents (3 [8] )

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Contents: Volume 3, Number 8   August 1994   [Index by Author]

       COMMENTARY

       ARTICLES

       REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author index

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COMMENTARY:

Timothy W. Houseal and Katherine W. Klinger: What's in a spot?
Hum. Mol. Genet. 1994 3: 1215-1216; doi:10.1093/hmg/3.8.1215 [PDF] [Request Permissions]

ARTICLES:

Erik G.Puffenberger, Erick R.Kauffman, Stacey Bolk, Tara C.Matise, Sarah S.Washington, Misha Angrist, Jean Weissenbach, Kenneth L.Garver, Maria Mascari, Roger Ladda, Susan A.SIaugenhaupt, and Aravinda Chakravarti: Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
Hum. Mol. Genet. 1994 3: 1217-1225; doi:10.1093/hmg/3.8.1217 [Abstract] [PDF] [Request Permissions]

K.E. Brown, M.A. Barnett, C. Burgtorf, P. Shaw, V.J. Buckle, and W.R.A. Brown: Dissecting the centromere of the human Y chromosome with cloned telomeric DNA
Hum. Mol. Genet. 1994 3: 1227-1237; doi:10.1093/hmg/3.8.1227 [Abstract] [PDF] [Request Permissions]

Julian N.Schofield, Derek J.Blake, Catherine Simmons, Glenn E.Morris, Jonathon M.TInsley, Kay E. Davies, and Yvonne H. Edwards: Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines
Hum. Mol. Genet. 1994 3: 1309-1316; doi:10.1093/hmg/3.8.1309 [Abstract] [PDF] [Request Permissions]

Stephen W.Scherer, Parvoneh Poorka], Hillary Massa, Sylvia Soder, Todd Allen, Mark Nunes, Dorrit Geshurl, Eddy Wong, Elena Bellonl, Stephen Little, Lumlng Zhou, Donna Becker, Juha Kere, Jaakko Ignatius, Norio Nllkawa, Yoshlmitsu Fukushlma, Tomonobu Hasegawa, Jean Weissenbach, Edoardo Boncinelli, Barbara Trask, Lap-Chee Tsui, and James P.Evans: Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
Hum. Mol. Genet. 1994 3: 1345-1354; doi:10.1093/hmg/3.8.1345 [Abstract] [PDF] [Request Permissions]

Charlotte S.P.Rose, Alexandra A.J.King, Doreen Summers, Roger Palmer, Samuel Yang, Andrew O.M. WIIkle, William Reardon, Sue Malcolm, and Robin M.Winter: Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2
Hum. Mol. Genet. 1994 3: 1405-1408; doi:10.1093/hmg/3.8.1405 [Abstract] [PDF] [Request Permissions]

Nur Akalin, Ewa Zletklewicz, Wojclech Makalowskl, and Damian Labuda: Are CpG sites mutation hot spots in the dystrophin gene?
Hum. Mol. Genet. 1994 3: 1425-1426; doi:10.1093/hmg/3.8.1425 [PDF] [Request Permissions]

REPORTS:

Leo Pallanck and Barry Ganetzky: Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke
Hum. Mol. Genet. 1994 3: 1239-1243; doi:10.1093/hmg/3.8.1239 [Abstract] [PDF] [Request Permissions]

Masashi Ikeno, Hiroshi Masumoto, and Tuneko Okazaki: Distribution of CENP-B boxes reflected in CREST centromere antigenic sites on long-range ${alpha}$ -satellite DNA arrays of human chromosome 21
Hum. Mol. Genet. 1994 3: 1245-1257; doi:10.1093/hmg/3.8.1245 [Abstract] [PDF] [Request Permissions]

Jan Zedenlus, Goran Wallin, Berth Hamberger, Magnus Nordenskjöld, Günther Weber, and Catharina Larsson: Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s
Hum. Mol. Genet. 1994 3: 1259-1262; doi:10.1093/hmg/3.8.1259 [Abstract] [PDF] [Request Permissions]

A. Hentati, M.A. Perlcak-Vance, W.-Y. Hung, S. Belal, N. Laing, R-M. Boustany, F. Hentatl, M.Ben Hamlda, and T. Siddlque: Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
Hum. Mol. Genet. 1994 3: 1263-1267; doi:10.1093/hmg/3.8.1263 [Abstract] [PDF] [Request Permissions]

Henny H. Lemmink, Toshlo MochlzukJ, Lambertus P.W.J. van den Heuvel, Cornells H. Schröder, Alberto Barrientos, Leo A.H. Monnens, Bernard A. van Oost, Han G. Brunner, Stephen T. Reeders, and Hubert J.M. Smeets: Mutations in the type IV collagen ${alpha}$ 3 (COL4A3) gene in autosomal recessive Alport syndrome
Hum. Mol. Genet. 1994 3: 1269-1273; doi:10.1093/hmg/3.8.1269 [Abstract] [PDF] [Request Permissions]

Gabriele Senger, Tania A.Jones, Helena Fldlerová, Philippe Sanséau, John Trowsdale, Michael Duff, and Denise Sheer: Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization
Hum. Mol. Genet. 1994 3: 1275-1280; doi:10.1093/hmg/3.8.1275 [Abstract] [PDF] [Request Permissions]

Anand Swaroop, Teresa L. Yang-Feng, Wanguo Liu, Linn Gieser, Lon L. Barrow, Kuang-Chao Chen, Neeraj Agarwal, Miriam H. Meisler, and David I. Smith: Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6
Hum. Mol. Genet. 1994 3: 1281-1286; doi:10.1093/hmg/3.8.1281 [Abstract] [PDF] [Request Permissions]

Jane E. Hewitt, Robert Lyle, Lorraine N. Clark, Elizabeth M. Valleley, Tracy J. Wright, Cisca Wijmenga, Judith C.T. van Deutekom, Fiona Francis, Paul T. Sharpe, Marten Hofker, Rune R. Frants, and Robert Williamson: Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy
Hum. Mol. Genet. 1994 3: 1287-1295; doi:10.1093/hmg/3.8.1287 [Abstract] [PDF] [Request Permissions]

Wolf Reik, Keith W.Brown, Rosalind E.Slatter, Pat Sartor, Margaret Elliott, and Eamonn R.Maher: Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome
Hum. Mol. Genet. 1994 3: 1297-1301; doi:10.1093/hmg/3.8.1297 [Abstract] [PDF] [Request Permissions]

Paul A.Crossey, Frances M.Richards, Keith Foster, Jane S. reen, Amanda Prowse, Farida Latlf, Michael I. Lerman, Berton Zbar, Nabeel A. Atfara, Malcolm A. Ferguson-Smith, and Eamonn R. Maher: Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
Hum. Mol. Genet. 1994 3: 1303-1308; doi:10.1093/hmg/3.8.1303 [Abstract] [PDF] [Request Permissions]

Carole A. Sargent, Craig Young, Sharon Marsh, Malcolm A. Ferguson-Smith, and Nabeel A. Affara: The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons
Hum. Mol. Genet. 1994 3: 1317-1324; doi:10.1093/hmg/3.8.1317 [Abstract] [PDF] [Request Permissions]

Marie-Hélène Delfau-Larue, Pavel Martasek, and Bernard Grandchamp: Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping
Hum. Mol. Genet. 1994 3: 1325-1330; doi:10.1093/hmg/3.8.1325 [Abstract] [PDF] [Request Permissions]

Val C. Sheffield, Rivka Carml, Anne Kwltek-Black, Tatiana Rokhlina, Darryl Nishlmura, Geoffrey M. Duyk, Khalil Elbedour, Sara L. Sunden, and Edwin M. Stone: Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
Hum. Mol. Genet. 1994 3: 1331-1335; doi:10.1093/hmg/3.8.1331 [Abstract] [PDF] [Request Permissions]

Gudrun A. Rappold, Albrecht Klink, Blrglt Weiss, and Christine Fischer: Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference
Hum. Mol. Genet. 1994 3: 1337-1340; doi:10.1093/hmg/3.8.1337 [Abstract] [PDF] [Request Permissions]

Yasushi Murata, Mayuml Tamari, Takashi Takahashl, Yoshltsugu Horio, Kenji Hlbi, Shiro Yokoyama, Johjl Inazawa, Kazuhiro Yamakawa, Akimi Ogawa, Toshitada Takahashi, and Yusuke Nakamura: Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line
Hum. Mol. Genet. 1994 3: 1341-1344; doi:10.1093/hmg/3.8.1341 [Abstract] [PDF] [Request Permissions]

Jean-Christophe Marinoni, Ellen Boyd, Stephanie Sherman, and Charles Schwartz: Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1
Hum. Mol. Genet. 1994 3: 1355-1357; doi:10.1093/hmg/3.8.1355 [Abstract] [PDF] [Request Permissions]

P.Andrew Futreal, Charles Cochran, Judith Rosenthal, Yoshlo Miki, Jeff Swenson, Maurine Hobbs, L.Michelle Bennett, Astrid Haugen-Strano, Jeff Marks, J.Carl Barrett, Sean V. Tavtlglan, Donna Shattuck-Eldens, Alexander Kamb, Mark Skolnick, and Roger W. Wiseman: Isolation of a diverged homeobox gene, M0X1, from the BRCA1 region on 17q21 by solution hybrid capture
Hum. Mol. Genet. 1994 3: 1359-1364; doi:10.1093/hmg/3.8.1359 [Abstract] [PDF] [Request Permissions]

M. MacDonald, T. Hassold, J. Harvey, L.H. Wang, N.E. Morton, and P. Jacobs: The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination
Hum. Mol. Genet. 1994 3: 1365-1371; doi:10.1093/hmg/3.8.1365 [Abstract] [PDF] [Request Permissions]

Deborah J. Henderson, Lisa S. Sherman, Slobhan C.Loughna, Phillip R.Bennett, and Gudrun E.Moore: Early embryonic failure associated with uniparental disomy for human chromosome 21
Hum. Mol. Genet. 1994 3: 1373-1376; doi:10.1093/hmg/3.8.1373 [Abstract] [PDF] [Request Permissions]

Therese Lightfoot, Raymond M. Lewkonla, and Floyd F. Snyder: Sequence, expression and characterization of HPRT_{Moose Jaw}: a point mutation resulting in cooperativity and decreased substrate affinities
Hum. Mol. Genet. 1994 3: 1377-1381; doi:10.1093/hmg/3.8.1377 [Abstract] [PDF] [Request Permissions]

Stephen S. Taylor and Chris Tyler Smith: Addition of functional human telomeres to YACs
Hum. Mol. Genet. 1994 3: 1383-1386; doi:10.1093/hmg/3.8.1383 [Abstract] [PDF] [Request Permissions]

Tobias Gedde-Dahl, Jr, Bertt Myhre Dupuy, Reidun Jonassen, Jan-Olof Winberg, Ingrun Anton-Lamprecht, and Bjomar Olalsen: Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1
Hum. Mol. Genet. 1994 3: 1387-1391; doi:10.1093/hmg/3.8.1387 [Abstract] [PDF] [Request Permissions]

Myriam Peyrard, Ingegerd Fransson, Ya-Gang Xie, Fei-Yu Han, Martin H.Ruttledge, Sofie Swahn, John E. Colllns, Ian Dunham, V.Peter Collins, and Jan P.Dumanski: Characterization of a new member of the human /-adaptin gene family from chromosome 22q12, a candidate meningioma gene
Hum. Mol. Genet. 1994 3: 1393-1399; doi:10.1093/hmg/3.8.1393 [Abstract] [PDF] [Request Permissions]

James A. Knowles, Yin Shugart, Poulabl Banerjee, T.Conrad Gilllam, Charies A. Lewis, Samuel G. Jacobson, and Jurg Ott: Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
Hum. Mol. Genet. 1994 3: 1401-1403; doi:10.1093/hmg/3.8.1401 [Abstract] [PDF] [Request Permissions]

Jessica L. Buxton, Chi-tsung J. Chan, Helen Gilbert, Jill Clayton-Smith, John Burn, Marcus Pembrey, and Susan Malcolm: Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb
Hum. Mol. Genet. 1994 3: 1409-1413; doi:10.1093/hmg/3.8.1409 [Abstract] [PDF] [Request Permissions]

Karln Jurkat-Rott, Frank Lehmann-Horn, Alexis Elbaz, Roland Heine, Ronald G. Gregg, Kirk Hogan, Patricia A. Powers, Pascale Laple, José E. Vale-Santos, Jean Weissenbach, and Bertrand Fontaine: A calcium channel mutation causing hypokalemic periodic paralysis
Hum. Mol. Genet. 1994 3: 1415-1419; doi:10.1093/hmg/3.8.1415 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Guillermo Antiolo, Beatriz Sánchez, Salud Borrego, Trinidad Rueda, Pedro Chaparro, and Juan C. Cabeza: Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa
Hum. Mol. Genet. 1994 3: 1421; doi:10.1093/hmg/3.8.1421 [PDF] [Request Permissions]

Deborah B.Loeb, Margaret A.Pericak-Vance, Jeffrey M.StajIch, and Jeffery M. Vance: A novel mutation in the von Hippel — Lindau gene
Hum. Mol. Genet. 1994 3: 1423-1424; doi:10.1093/hmg/3.8.1423 [PDF] [Request Permissions]

Shunji Tomatsu, Seiji Fukuda, Tatsuya Ogawa, Zenichiro Kato, Kouji Isogal, Nsomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Kazuko Sukegawa, and Tadao Orii: A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA
Hum. Mol. Genet. 1994 3: 1427-1428; doi:10.1093/hmg/3.8.1427 [PDF] [Request Permissions]

David Wenkert, John J. Merendino, Jr, Andrew Shenker, Nina Thambl, Gary L. Robertson, Arnold M. Moses, and Allen M. Spiegel: Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus
Hum. Mol. Genet. 1994 3: 1429-1430; doi:10.1093/hmg/3.8.1429 [PDF] [Request Permissions]

Jeremy P. Cheadle, Elena Belloni, Maurizio Ferrari, Lynne Millar-Jones, and Alison L.Meredith: A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin
Hum. Mol. Genet. 1994 3: 1431-1432; doi:10.1093/hmg/3.8.1431 [PDF] [Request Permissions]

Eric Souied, Sylive Gerber, Jean-Michel Rozet, Dominique Bonneau, Jean-Louis Dufier, Ihmad Ghazi, Nicole Philip, Gisèle Soubrane, Gabriel Coscas, Arnold Munnich, and Josseline Kaplan: Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa
Hum. Mol. Genet. 1994 3: 1433-1434; doi:10.1093/hmg/3.8.1433 [PDF] [Request Permissions]

Fiona M.Reld, Guy A.Vernham, and Howard T.Jacobs: Complete mtDNA sequence of a patient in a maternal pedigree with sensorineruar deatiness
Hum. Mol. Genet. 1994 3: 1435-1436; doi:10.1093/hmg/3.8.1435 [PDF] [Request Permissions]

Taku lida, Yutaka Nakahori, Rie Komaki, Eri Mori, Nobuyoshi Hayashi, Osamu Tsutsumi, Yuji Taketani, and Yasuo Nakagome: A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal
Hum. Mol. Genet. 1994 3: 1437-1438; doi:10.1093/hmg/3.8.1437 [PDF] [Request Permissions]

Tanla Attle, Anna Pelet, Pierre Sarda, Chads Eng, Patrick Edery, Lois M. Mulligan, Bruce A.J. Ponder, Arnold Munnich, and Stanislas Lyonnet: A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease
Hum. Mol. Genet. 1994 3: 1439-1440; doi:10.1093/hmg/3.8.1439 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

E. Velasco, A. de la Puente, J. Cruces, M. del Carmen Valero, E. Garcfa-Patino, l.del Castillo, A. Coloma, F. Moren, and C. Hernández-Chico: Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci
Hum. Mol. Genet. 1994 3: 1441; doi:10.1093/hmg/3.8.1441 [PDF] [Request Permissions]

W. Gong, L. Hu, P. Kioschis, A. Poutska, and N. Dahl: Dinucleotide repeat polymorphism at the DXS1684 locus
Hum. Mol. Genet. 1994 3: 1442; doi:10.1093/hmg/3.8.1442 [PDF] [Request Permissions]

C.M. BIack, A.P. Wrthers, and M. Boxer: An Rsa\ polymorphism for the fibrillin gene (FBN1)
Hum. Mol. Genet. 1994 3: 1442; doi:10.1093/hmg/3.8.1442-a [PDF] [Request Permissions]

M. Stack, D. Crichton, and M. Santibanez-Koref: Two dinucleotide repeat polymorphisms at 17p13
Hum. Mol. Genet. 1994 3: 1443; doi:10.1093/hmg/3.8.1443 [PDF] [Request Permissions]

Yongsheng Xu and Honghua Li: An A to G polymorphism in the SHBG gene
Hum. Mol. Genet. 1994 3: 1443; doi:10.1093/hmg/3.8.1443-a [PDF] [Request Permissions]

A. Doria, L. Ji, J.H. Warram, and A.S. Krolewski: Ddel polymorphism in the AGTR1 gene
Hum. Mol. Genet. 1994 3: 1444; doi:10.1093/hmg/3.8.1444 [PDF] [Request Permissions]

M. Kasapi, John Holik, Meeta Shah, Mark Hoff, Hilary Coon, and William Byerley: SSCP at the HTR1DA locus
Hum. Mol. Genet. 1994 3: 1444; doi:10.1093/hmg/3.8.1444-a [PDF] [Request Permissions]

B.L. Landa, J.E. Reynolds, David Beeson, and S.R. Diehl: Dinucleotide repeat polymorphism at the CHRND locus
Hum. Mol. Genet. 1994 3: 1445; doi:10.1093/hmg/3.8.1445 [PDF] [Request Permissions]

V. Schnulle, Mike Schlicker, and Wolfgang Engel: A (GA)_n repeat polymorphism in the human protamine 2 (PRM 2) gene
Hum. Mol. Genet. 1994 3: 1445; doi:10.1093/hmg/3.8.1445-a [PDF] [Request Permissions]

H.van Bokhoven, C.van Genderen, H.-H. Ropers, and F.P.M. Cremers: Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2
Hum. Mol. Genet. 1994 3: 1446; doi:10.1093/hmg/3.8.1446 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1994 3: 1447; doi:10.1093/hmg/3.8.1447 [PDF] [Request Permissions]