Hum. Mol. Genet. -- Table of Contents (2 [5] )

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Contents: Volume 2, Number 5   May 1993   [Index by Author]

       COMMENTARY

       ORIGINAL ARTICLES

       SHORT REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       NEW HUMAN DNA POLYMORPHISMS UPDATE

       Author index

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COMMENTARY:

Huntington F. Willard: The needle found!!! Trinucleotide repeat expansion in the Huntington's disease gene
Hum. Mol. Genet. 1993 2: 497-498; doi:10.1093/hmg/2.5.497 [PDF] [Request Permissions]

ORIGINAL ARTICLES:

Anna Wedell and Holger Luthman: Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
Hum. Mol. Genet. 1993 2: 499-504; doi:10.1093/hmg/2.5.499 [Abstract] [PDF] [Request Permissions]

Christoph Lengauer, Michael Speicher, Susanne Popp, Anna Jauch, Masafumi Taniwaki, Ramaiah Nagaraja, Harold C. Riethman, Helen Donis-Keller, Michele D'Urso, David Schlessinger, and Thomas Cremer: Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes
Hum. Mol. Genet. 1993 2: 505-512; doi:10.1093/hmg/2.5.505 [Abstract] [PDF] [Request Permissions]

Darren G. Monckton, Keiji Tamaki, Annette MacLeod, David L. Neil, and Alec J. Jeffreys: Allele-specific MVR-PCR analysis at minisatellite D1S8
Hum. Mol. Genet. 1993 2: 513-519; doi:10.1093/hmg/2.5.513 [Abstract] [PDF] [Request Permissions]

Jonathon M. Tinsley, Derek J. Blake, and Kay E. Davies: Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site
Hum. Mol. Genet. 1993 2: 521-524; doi:10.1093/hmg/2.5.521 [Abstract] [PDF] [Request Permissions]

Anu Suomalainen, Anna Majander, Helena Pihko, Leena Peltonen, and Ann-Christine Syvänen: Quantification of tRNA₃₂₄₃^Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription
Hum. Mol. Genet. 1993 2: 525-534; doi:10.1093/hmg/2.5.525 [Abstract] [PDF] [Request Permissions]

Valérie Lamour, Nicolas Lévy, Chantal Desmaze, Véronique Baude, Yann Lécluse, Olivier Delattre, Alain Bernheim, Gilles Thomas, Alain Aurias, and Marc Lipinski: Isolation of cosmids and fetal brain cDNAs from the proximal long arm of human chromosome 22
Hum. Mol. Genet. 1993 2: 535-540; doi:10.1093/hmg/2.5.535 [Abstract] [PDF] [Request Permissions]

Mark S. Palmer, Sukhvir P. Mahal, Tracy A. Campbell, Andrew F. Hill, Katie C.L. Sidle, Jean-Louis Laplanche, and John Collinge: Deletions in the prion protein gene are not associated with CJD
Hum. Mol. Genet. 1993 2: 541-544; doi:10.1093/hmg/2.5.541 [Abstract] [PDF] [Request Permissions]

F. Bernardi, P. Patracchini, D. Gemmati, M. Pinotti, C. Schwienbacher, G. Ballerini, and G. Marchetti: In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease
Hum. Mol. Genet. 1993 2: 545-548; doi:10.1093/hmg/2.5.545 [Abstract] [PDF] [Request Permissions]

R. Weksberg, I. Teshima, B.R.G. Williams, C.R. Greenberg, S.M. Pueschel, J.E. Chernos, S.B. Fowlow, E. Hoyme, I.J. Anderson, D.A.H. Whiteman, N. Fisher, and J. Squire: Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
Hum. Mol. Genet. 1993 2: 549-556; doi:10.1093/hmg/2.5.549 [Abstract] [PDF] [Request Permissions]

M.Rita Passos-Bueno, Cisca Wijmenga, Reinaldo E. Takata, Sueli K.N. Marie, Mariz Vainzof, Rita C. Pavanello, Jane E. Hewitt, Egbert Bakker, Alzira Carvalho, Jane Akiyama, Rune R. Frants, and Mayana Zatz: No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers
Hum. Mol. Genet. 1993 2: 557-562; doi:10.1093/hmg/2.5.557 [Abstract] [PDF] [Request Permissions]

Nadia Soussi-Yanicostas, Robert G. Whalen, and Christine Petit: Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome
Hum. Mol. Genet. 1993 2: 563-569; doi:10.1093/hmg/2.5.563 [Abstract] [PDF] [Request Permissions]

Paolo Gasparini, Lorena Borgato, Alberto Piperno, Domenico Girelli, Oliviero Olivieri, Enrico Gottardi, Antonella Roetto, Irma Dianzani, Siliva Fargion, Giuseppe Schinaia, Maria D. Cappellini, Giorgio Gandini, PierFranco Pignatti, Gemino Fiorelli, Giorgio De Sandre, and Clara Camaschella: Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F
Hum. Mol. Genet. 1993 2: 571-576; doi:10.1093/hmg/2.5.571 [Abstract] [PDF] [Request Permissions]

Alexei A. Goltsov, Randy C. Eisensmith, Eileen R. Naughton, Li Jin, Ranajit Charkraborty, and Savio L.C. Woo: A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria
Hum. Mol. Genet. 1993 2: 577-581; doi:10.1093/hmg/2.5.577 [Abstract] [PDF] [Request Permissions]

Jan Hendrickx, Paul Coucke, Paul Bossuyt, Jan Wauters, Peter Raeymaekers, Fabienne Marchau, G. Peter A. Smit, Irene Stolte, I.B. Sardharwalla, Jacques Berthelot, Inge Van den Bergh, Ruud Berger, Christine Van Broeckhoven, Christiane Baussan, Martin Wapenaar, Fernandes John, and Patrick J. Willems: X-linked liver glycogenosis: localization and isolation of a candidate gene
Hum. Mol. Genet. 1993 2: 583-589; doi:10.1093/hmg/2.5.583 [Abstract] [PDF] [Request Permissions]

SHORT REPORTS:

B.A. Fernie, G. Delbridge, and M.J. Hobart: Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes
Hum. Mol. Genet. 1993 2: 591-592; doi:10.1093/hmg/2.5.591 [PDF] [Request Permissions]

Karen G. Bebchuk, Dennis E. Bulman, Vinita N. D'Souza, Ronald G. Worton, and Peter N. Ray: Genomic organization of exons 22 to 25 of the dystrophin gene
Hum. Mol. Genet. 1993 2: 593-594; doi:10.1093/hmg/2.5.593 [PDF] [Request Permissions]

E. Boye, F.A. Flinter, M. Bobrow, and A. Harris: An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient
Hum. Mol. Genet. 1993 2: 595-596; doi:10.1093/hmg/2.5.595 [PDF] [Request Permissions]

MUTATION REPORTS:

Shigetoshi Ichii, Hiroki Nagase, Takahiro Mori, Shozo Baba, and Yusuke Nakamura: A novel mutation of the APC (adenomatous polyposis coli) gene in a familial adenomatous polyposis (FAP) patient and presymptomatic diagnosis using PCR
Hum. Mol. Genet. 1993 2: 597; doi:10.1093/hmg/2.5.597 [PDF] [Request Permissions]

Shi-Han Chen, Jon M. Schoof, C.Ronald Scott, and Arthur R. Thompson: Five novel factor IX mutations in unrelated hemophilia B families
Hum. Mol. Genet. 1993 2: 599-600; doi:10.1093/hmg/2.5.599 [PDF] [Request Permissions]

B.E. Nichols, A.V. Drack, K. Vandenburgh, A.E. Kimura, V.C. Sheffield, and E.M. Stone: A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
Hum. Mol. Genet. 1993 2: 601-603; doi:10.1093/hmg/2.5.601 [PDF] [Request Permissions]

Sandra Kleiman, Jia Li, Gerard Schwartz, A.E. Kimura, Randy C. Eisensmith, Savio L.C. Woo, and Yosef Shiloh: Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria
Hum. Mol. Genet. 1993 2: 605-606; doi:10.1093/hmg/2.5.605 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Nicholas Fairweather, Jamel Chelly, and Anthony P. Monaco: Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach
Hum. Mol. Genet. 1993 2: 607-608; doi:10.1093/hmg/2.5.607 [PDF] [Request Permissions]

Andreas P. Russ, Winfried Maerz, Viktor Ruzicka, Ulrike Stein, and Werner Groß: Rapid detection of the hypertension-associated Met²³⁵ $->$ Thr allele of the human angiotensinogen gene
Hum. Mol. Genet. 1993 2: 609-610; doi:10.1093/hmg/2.5.609 [PDF] [Request Permissions]

Larry D. Overbeck, Michael D. Weston, William J. Kimberling, and Glen A. Evans: Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4
Hum. Mol. Genet. 1993 2: 611; doi:10.1093/hmg/2.5.611 [PDF] [Request Permissions]

D.L. Browne, K.D. McMilin, and M. Litt: Dinucleotide repeat polymorphism at the DXS1111 locus
Hum. Mol. Genet. 1993 2: 611; doi:10.1093/hmg/2.5.611-a [PDF] [Request Permissions]

C. Weber, C. Outdet, S. Johnson, G. Pillia, D. Schlessinger, and A. Hanauer: Dinucleotide repeat polymorphism at Xq26.1 (DXS1114)
Hum. Mol. Genet. 1993 2: 612; doi:10.1093/hmg/2.5.612 [PDF] [Request Permissions]

C. Weber, C. Outdet, S. Johnson, G. Pilia, D. Schlessinger, and A. Hanauer: Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113)
Hum. Mol. Genet. 1993 2: 612; doi:10.1093/hmg/2.5.612-a [PDF] [Request Permissions]

D.L. Thiselton, S. Kamakari, A.R.J. Curtis, M.P. Coleman, K.E. Davies, S. Lindsay, and S. Bhattacharya: Dinucleotide repeat polymorphism at the DXS556 locus
Hum. Mol. Genet. 1993 2: 613; doi:10.1093/hmg/2.5.613 [PDF] [Request Permissions]

I.N. Bespalova, S. Kiousis, J.S. Chamberliain, and M. Burmeister: Dinucleotide repeat polymorphism at D21S49 (21 q22.3)
Hum. Mol. Genet. 1993 2: 613; doi:10.1093/hmg/2.5.613-a [PDF] [Request Permissions]

H. Perry, D.P. Cerretti, W.Y. Langdon, and M. Tunnacliffe: Five sequence tagged sites for human chromosome band 11 q23
Hum. Mol. Genet. 1993 2: 614; doi:10.1093/hmg/2.5.614 [PDF] [Request Permissions]

Sharon L. Graw and David J. Kwiatkowski: Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199)
Hum. Mol. Genet. 1993 2: 614; doi:10.1093/hmg/2.5.614-a [PDF] [Request Permissions]

Romeo Carrozzo and David H. Ledbetter: Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)
Hum. Mol. Genet. 1993 2: 615; doi:10.1093/hmg/2.5.615 [PDF] [Request Permissions]

Kenneth Ward, Robyn Riley, Jun Lu, Margaret Robertson, and Lesa Nelson: Tetranucleotide repeat polymorphism at the D8S307 locus
Hum. Mol. Genet. 1993 2: 615; doi:10.1093/hmg/2.5.615-a [PDF] [Request Permissions]

J. Goto, A. Gnrike, N. Khodr, E. Kaufer, A. Krizus, D.A. Figlewicz, and G.A. Rouleau: Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene
Hum. Mol. Genet. 1993 2: 616; doi:10.1093/hmg/2.5.616 [PDF] [Request Permissions]

Lionel C.C. Lim and Michael Gill: A complex dinucleotide repeat polymorphism in the human Na⁺K⁺ATPass alpha subunit (ATP1A2) gene
Hum. Mol. Genet. 1993 2: 616; doi:10.1093/hmg/2.5.616-a [PDF] [Request Permissions]

D.R. Rosen and R.H. Brown, Jr: Dinculeotide repeat polymorphism in the HOX4E locus
Hum. Mol. Genet. 1993 2: 617; doi:10.1093/hmg/2.5.617 [PDF] [Request Permissions]

M. Alizadeh, G. Semana, and R. Fauchet: A new probe detecting HLA-8 gene polymorphism
Hum. Mol. Genet. 1993 2: 617; doi:10.1093/hmg/2.5.617-a [PDF] [Request Permissions]

Dietmar Mischke: Frequencies of human keratin 10 alleles
Hum. Mol. Genet. 1993 2: 618; doi:10.1093/hmg/2.5.618 [PDF] [Request Permissions]

D.J. Perry: Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene
Hum. Mol. Genet. 1993 2: 618; doi:10.1093/hmg/2.5.618-a [PDF] [Request Permissions]

Anna T. Brini, Laura Schmidt, Berton Zbar, and Jean-Pierre Kinet: A dinucleotide repeat polymorphism in the gene for the ${gamma}$ subunit of the human Fc ${varepsilon}$ receptors (FLER16)
Hum. Mol. Genet. 1993 2: 619; doi:10.1093/hmg/2.5.619 [PDF] [Request Permissions]

M.T. McDonald, K.A. Papenberg, A.A. Glatfelter, J.L. Vander-Stoep, and D.A. Marchuk: Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13
Hum. Mol. Genet. 1993 2: 619; doi:10.1093/hmg/2.5.619-a [PDF] [Request Permissions]

R. Tupler, E. Rogaeva, G. Vaula, M. Mortilla, W. Lukiw, Y. Liang, R. Hancock, E. Rogaev, and P.St George-Hyslop: A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene
Hum. Mol. Genet. 1993 2: 620; doi:10.1093/hmg/2.5.620 [PDF] [Request Permissions]

NEW HUMAN DNA POLYMORPHISMS UPDATE:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1993 2: 621-629; doi:10.1093/hmg/2.5.621 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 631; doi:10.1093/hmg/2.5.631 [PDF] [Request Permissions]