Hum. Mol. Genet. -- Table of Contents (3 [4] )

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Contents: Volume 3, Number 4   April 1994   [Index by Author]

       ARTICLES

       REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author index

       Additional Information

       CORRIGENDA

       ERRATA

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ARTICLES:

Julie C. Webb, Dilip D. Patel, Michael D. Jones, Brian L. Knight, and Anne K. Soutar: Characterization and tissue-specific expression of the human ‘very low density lipoprotein (VLDL) receptor’ mRNA
Hum. Mol. Genet. 1994 3: 531-537; doi:10.1093/hmg/3.4.531 [Abstract] [PDF] [Request Permissions]

Rosemary A.L.Bayne, Dominique Broccoli, Mary H. Taggart, Eric J. Thomson, Christine J. Farr, and Howard J.Cooke: Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing
Hum. Mol. Genet. 1994 3: 539-546; doi:10.1093/hmg/3.4.539 [Abstract] [PDF] [Request Permissions]

M.Carmen Valero, Eladlo Velasco, Felipe Moreno, and Concepclón Heméndez-Chico: Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)
Hum. Mol. Genet. 1994 3: 639-641; doi:10.1093/hmg/3.4.639 [Abstract] [PDF] [Request Permissions]

REPORTS:

Marjon A.van Slegtenhorst, Maria T.Bassl, Gluseppe Borsanil, Martin C. Wapenaar, Giovanni B. Ferrero, Lisa de Concillls, Elena I. Rugarli, Alessandra Grillo, Brunella Franco, Huda Y.Zoghbl, and Andrea Ballabio: A gene from the Xp22.3 region shares homology with voltage-gated chloride channels
Hum. Mol. Genet. 1994 3: 547-552; doi:10.1093/hmg/3.4.547 [Abstract] [PDF] [Request Permissions]

Masayoshl Tachibana, Luis A. Perez-Jurado, Atsuo Nakayama, Colin A. Hodgkinson, Xu Li, Mark Schneider, Toru Miki, Jo{diaeresis}ren Fex, Uta Francke, and Heinz Amheiter: Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3
Hum. Mol. Genet. 1994 3: 553-557; doi:10.1093/hmg/3.4.553 [Abstract] [PDF] [Request Permissions]

Mark J. Pykett, Maureen Murphy, Peter R. Harnish, and Donna L. George: The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts
Hum. Mol. Genet. 1994 3: 559-564; doi:10.1093/hmg/3.4.559 [Abstract] [PDF] [Request Permissions]

Hirofuml Arakawa, Naoko Hayashl, Hirokl Nagase, Michlo Ogawa, and Yusuke Nakamura: Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers
Hum. Mol. Genet. 1994 3: 565-568; doi:10.1093/hmg/3.4.565 [Abstract] [PDF] [Request Permissions]

Marie-Christine Chartier-Hariln, Matthew Parfitt, Sylvle Legrain, Jordi Pérez-Tur, Thierry Brousseau, Alun Evans, Claudine Berr, Odile Vldal, Penelope Roques, Véronique Gourlet, Jean-Charles Fruchart, André Delacourte, Martin Rossor, and Philippe Amouyel: Apolipoprotein E, ${varepsilon}$ 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region
Hum. Mol. Genet. 1994 3: 569-574; doi:10.1093/hmg/3.4.569 [Abstract] [PDF] [Request Permissions]

A. Sander, R. Schmelzle, and J. Murray: Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome
Hum. Mol. Genet. 1994 3: 575-578; doi:10.1093/hmg/3.4.575 [Abstract] [PDF] [Request Permissions]

Gyula Acsadi, Agnes Jani, Bernard Massie, Maude Simoneau, Paul Holland, Katharine Blaschuk, and George Karpati: A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity
Hum. Mol. Genet. 1994 3: 579-584; doi:10.1093/hmg/3.4.579 [Abstract] [PDF] [Request Permissions]

Angela Weber and Adrian J.L.Clark: Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
Hum. Mol. Genet. 1994 3: 585-588; doi:10.1093/hmg/3.4.585 [Abstract] [PDF] [Request Permissions]

Ian G. Campbell, Hans M. Nicolal, William D. Foulkes, abriel Senger, Gordon W. Stamps, Gordon Allans, Clnda Boyer, Karen Jones, Robert C. Bast, Jr, Ellen Solomon, John Trowsdale, and Donald M. Black: A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1
Hum. Mol. Genet. 1994 3: 589-594; doi:10.1093/hmg/3.4.589 [Abstract] [PDF] [Request Permissions]

Frances M. Richards, Paul A. Crossey, Maude E. Phlpps, Keith Foster, Farida Latif, Gareth Evans, Julian Sampson, Michael I. Lerman, Berton Zbar, Nabeel A. Affara, Malcolm A. Ferguson-Smith, and Eamonn R. Maher: Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene
Hum. Mol. Genet. 1994 3: 595-598; doi:10.1093/hmg/3.4.595 [Abstract] [PDF] [Request Permissions]

John A.L. Armour, Rita Neumann, Stephanie Gobert, and Alec J. Jeffreys: Isolation of human simple repeat loci by hybridization selection
Hum. Mol. Genet. 1994 3: 599-605; doi:10.1093/hmg/3.4.599 [Abstract] [PDF] [Request Permissions]

Harry Cuppens, Hui Teng, Peter Raeymaekers, Christine De Boeck, and Jean-Jacques Casslman: CFTR haplotype backgrounds on normal and mutant CFTR genes
Hum. Mol. Genet. 1994 3: 607-614; doi:10.1093/hmg/3.4.607 [Abstract] [PDF] [Request Permissions]

Henk Meljer, Esther de Graaff, Diane M.L. Merckx, Roselle J.E. Jongbloed, Christine E.M. de Die-Smulders, John J.M. Engelen, Jean-Pierre Fryns, Paul M.G. Curfs, and Ben A. Oostra: A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
Hum. Mol. Genet. 1994 3: 615-620; doi:10.1093/hmg/3.4.615 [Abstract] [PDF] [Request Permissions]

Maria Breen, Lisa Deakln, Bernard Macdonald, Steve Miller, Ross Sibson, Emma Tarttelln, Philip Avner, Franck Bourgade, Jean-Louis Guenet, Xavler Montagutelli, Christophe Polrier, Dominique Simon, Dillp Tailor, Martin Bishop, Maria Kelly, Francis Rysavy, Sohaila Rastan, Dominic Norris, David Shepherd, Cathy Abbott, Alison Pllz, Sarah Hodge, Ian Jackson, Yvonne Boyd, Helen Blair, Gareth Maslen, John A.Todd, Peter W.Reed, Jonathan Stoye, Alan Ashworth, Linda McCarthy, Roger Cox, Leo Schalkwyk, Hans Lehrach, Joachim Klose, Uma Gangadharan, and Steve Brown: Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution
Hum. Mol. Genet. 1994 3: 621-627; doi:10.1093/hmg/3.4.621 [Abstract] [PDF] [Request Permissions]

Thomas Haaf and David C. Ward: High resolution ordering of YAC contigs using extended chromatin and chromosomes
Hum. Mol. Genet. 1994 3: 629-633; doi:10.1093/hmg/3.4.629 [Abstract] [PDF] [Request Permissions]

Feiyu Xue, Hong Yu, L.Herbert Maurer, Vincent A. Memoll, Nancy Nutile-McMenemy, Melissa K. Schuster, Donald W. Bowden, Jen-I Mao, and Walter W. Noll: Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests
Hum. Mol. Genet. 1994 3: 635-638; doi:10.1093/hmg/3.4.635 [Abstract] [PDF] [Request Permissions]

Robert McMahon, Lois M. Mulligan, Catherine S. Healey, Stewart J. Payne, Margaret Ponder, Malcolm A. Ferguson-Smith, David E. Barton, and Bruce A. J.Ponder: Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families
Hum. Mol. Genet. 1994 3: 643-646; doi:10.1093/hmg/3.4.643 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Maria T. Bassi, Arthur A.B. Bergen, Martin C. Wapenaar, Maria V. Schlaffino, Mary van Schooneveld, John R.W. Yates, Stephen J. Charles, Thomas Meltinger, and Andrea Ballabio: A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)
Hum. Mol. Genet. 1994 3: 647-648; doi:10.1093/hmg/3.4.647 [PDF] [Request Permissions]

Cheryl T. Jones, Robert J. Swingler, and David J.H. Brock: Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others
Hum. Mol. Genet. 1994 3: 649-650; doi:10.1093/hmg/3.4.649 [PDF] [Request Permissions]

Sanjay I. Bidichandan, Caroline R. Shiach, W.George Lanyon, and J.Michael Connor: A novel splice donor mutation affecting position + 3 in intron 6 of the factor VIII gene
Hum. Mol. Genet. 1994 3: 651-653; doi:10.1093/hmg/3.4.651 [PDF] [Request Permissions]

S. Fuchs, S.Y. Xu, M. Caballero, M. Salcedo, A.La O, H. Wedemann, and A. Gal: A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease
Hum. Mol. Genet. 1994 3: 655-656; doi:10.1093/hmg/3.4.655 [PDF] [Request Permissions]

Tzipora Shoshanl, Arie Augarten, Jaacov Yahav, Ephraim Gazit, and Batsheva Kerem: Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21
Hum. Mol. Genet. 1994 3: 657-658; doi:10.1093/hmg/3.4.657 [PDF] [Request Permissions]

Yoshlyuki Okano, Yutaka Hase, Haruo Shintaku, Kumlko Arakl, Jun-lchl Furuyama, Toshiakl Oura, and Gen Isshlkl: Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts
Hum. Mol. Genet. 1994 3: 659-660; doi:10.1093/hmg/3.4.659 [PDF] [Request Permissions]

Marie-Catherine Romey, Marie Desgeorges, Perrine Malzac, Jacques Saries, Jacques Demallle, and Mirellle Claustres: Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent
Hum. Mol. Genet. 1994 3: 661-662; doi:10.1093/hmg/3.4.661 [PDF] [Request Permissions]

Pierre Hutter, Stylianos E.Antonarakis, Célla D. Delozier-Blanchet, and Michael A. Morris: Exon skipping associated with A $->$ G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene
Hum. Mol. Genet. 1994 3: 663-665; doi:10.1093/hmg/3.4.663 [PDF] [Request Permissions]

Joanna Davies, Helen Christomanou, Bryan Winchester, and Susan Malcolm: Detection of 8 new mutations in the ${alpha}$ -galactosidase A gene in Fabry disease
Hum. Mol. Genet. 1994 3: 667-669; doi:10.1093/hmg/3.4.667 [PDF] [Request Permissions]

Paul Coucke, Lleve Vits, Guy Van Camp, Francoise Serville, Stanislas Lyonnet, Susan Kenwrick, André Rosenthal, Manfred Wehnert, Arnold Munnich, and Patrick J. Willems: Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family
Hum. Mol. Genet. 1994 3: 671-673; doi:10.1093/hmg/3.4.671 [PDF] [Request Permissions]

Paule Bénit, Françolse Rey, Dominique Melle, Arnold Munnich, and Jean Rey: Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria
Hum. Mol. Genet. 1994 3: 675-676; doi:10.1093/hmg/3.4.675 [PDF] [Request Permissions]

M.K. Schuster and D.W. Bowden: D10S681, a microsatellite polymorphism near the RET locus
Hum. Mol. Genet. 1994 3: 677; doi:10.1093/hmg/3.4.677 [PDF] [Request Permissions]

T.D. Howard, C.B. Rothschild, and D.W. Bowden: D20S213, a microsatellite polymorphism near the D20S16 locus
Hum. Mol. Genet. 1994 3: 677; doi:10.1093/hmg/3.4.677-a [PDF] [Request Permissions]

J.C. Haworth, R. Singal, S.I. Goodman, and C.R. Greenberg: Taql polymorphism in intron 2 of the GCDH gene
Hum. Mol. Genet. 1994 3: 678; doi:10.1093/hmg/3.4.678 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

A.M. Basart, J.F. Qian, E. May, and J.C. Murray: A PCR method for detecting polymorphism in the TGFA gene
Hum. Mol. Genet. 1994 3: 678; doi:10.1093/hmg/3.4.678-a [PDF] [Request Permissions]

L. Schmidt, R. Pozzatti, H. Li, M.H. Wei, C. Vocke, W.M. Linehan, and K. Tory: A microsatellite, D8S602, adjacent to the MSR gene
Hum. Mol. Genet. 1994 3: 679; doi:10.1093/hmg/3.4.679 [PDF] [Request Permissions]

C. Epplen, G. Frank, M. Gomolka, M. Nagy, P. Nurnberg, and J.T. Epplen: Dinucleotide repeat polymorphism in the IL2 and IL5RA genes
Hum. Mol. Genet. 1994 3: 679; doi:10.1093/hmg/3.4.679-a [PDF] [Request Permissions]

M.J. Econs, F. Francis, P.S.N. Rowe, M.C. Speer, J.L.H. O'Riordan, H. Lehrach, and P.A. Becker: Dinucleotide repeat polymorphism at the DXS1683 locus
Hum. Mol. Genet. 1994 3: 680; doi:10.1093/hmg/3.4.680 [PDF] [Request Permissions]

J.C. Wardlaw, S.G. Brodie, H.L. Seddon, and T.M. Williams: CA repeat polymorphism at the TCF8 locus
Hum. Mol. Genet. 1994 3: 680; doi:10.1093/hmg/3.4.680-a [PDF] [Request Permissions]

K. Fillmore, J. Lu, R. Riley, M. Petterson, and K. Ward: Tetranucleotide repeat polymorphism at the D8S322 locus
Hum. Mol. Genet. 1994 3: 681; doi:10.1093/hmg/3.4.681 [PDF] [Request Permissions]

I. Vorechovsky, Z. Kozmík, L. Hammarström, C.I.E. Smith, and M. Busslinger: An intragenic Taql RFLP at the PAX5 locus
Hum. Mol. Genet. 1994 3: 681; doi:10.1093/hmg/3.4.681-a [PDF] [Request Permissions]

Y. Cao, J.K. Wagner, A. Eblé, P. Hindmarsh, and P.E. Mullis: BamHI RFLP for the GHRHR locus
Hum. Mol. Genet. 1994 3: 682; doi:10.1093/hmg/3.4.682 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1994 3: 683; doi:10.1093/hmg/3.4.683 [PDF] [Request Permissions]

Additional Information:

: ADDITIONAL INFORMATION
Hum. Mol. Genet. 1994 3: 684; doi:10.1093/hmg/3.4.684 [PDF] [Request Permissions]

CORRIGENDA:

: CORRIGENDA
Hum. Mol. Genet. 1994 3: 684-685; doi:10.1093/hmg/3.4.684-a [PDF] [Request Permissions]

ERRATA:

: ERRATA
Hum. Mol. Genet. 1994 3: 686-687; doi:10.1093/hmg/3.4.686 [PDF] [Request Permissions]

Human Molecular Genetics