Human Molecular Genetics

MINI REVIEW:

Christopher F. Higgins and Ann E. O. Trezise

Cystic fibrosis mice have arrived!
Hum. Mol. Genet. 1992 1: 459-460; doi:10.1093/hmg/1.7.459 [PDF] [Request Permissions]  

ORIGINAL ARTICLES:

Wolfgang Berger, Dorien van de Pol, Mette Warburg, Andreas Gal, Liesbeth Bleeker-Wagemakers, Harendra de Silva, Alfons Meindl, Thomas Meitinger, Frans Cremers, and Hans-Hilger Ropers

Mutations in the candidate gene for Norrie disease
Hum. Mol. Genet. 1992 1: 461-465; doi:10.1093/hmg/1.7.461 [Abstract] [PDF] [Request Permissions]  

Peggy Shelbourne, Robert Winqvist, Erich Kunert, June Davies, Jaakko Leisti, Hannelore Thiele, Hans Bachmann, Jessica Buxton, Bob Williamson, and Keith Johnson

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
Hum. Mol. Genet. 1992 1: 467-473; doi:10.1093/hmg/1.7.467 [Abstract] [PDF] [Request Permissions]  

Angela M. Christiano, Louise M. Rosenbaum, Linda C. Chung-Honet, M. Gabriela Parente, David T. Woodley, Te-Cheng Pan, Rui Zhu Zhang, Mon-Li Chu, Robert E. Burgeson, and Jouni Uitto

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor
Hum. Mol. Genet. 1992 1: 475-481; doi:10.1093/hmg/1.7.475 [Abstract] [PDF] [Request Permissions]  

Zeynep Tümer, Jamel Chelly, Niels Tommerup, Yumiko Ishikawa-Brush, Tønne Tønnesen, Anthony P. Monaco, and Nina Horn

Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease
Hum. Mol. Genet. 1992 1: 483-489; doi:10.1093/hmg/1.7.483 [Abstract] [PDF] [Request Permissions]  

Shrawan Kumar, William J. Kimberling, Judy B. Kenyon, Richard J. H. Smith, Henri A. M. Marres, and Cor W. R. J. Cremers

Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family
Hum. Mol. Genet. 1992 1: 491-495; doi:10.1093/hmg/1.7.491 [Abstract] [PDF] [Request Permissions]  

J. A. Batch, D. M. Williams, H. R. Davies, B. D. Brown, B. A. J. Evans, I. A. Hughes, and M. N. Patterson

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome
Hum. Mol. Genet. 1992 1: 497-503; doi:10.1093/hmg/1.7.497 [Abstract] [PDF] [Request Permissions]  

Dariusz C. Górecki, Anthony P. Monaco, Jonathan M. J. Derry, Ann P. Walker, Eric A. Barnard, and Pene J. Barnard

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
Hum. Mol. Genet. 1992 1: 505-510; doi:10.1093/hmg/1.7.505 [Abstract] [PDF] [Request Permissions]  

Patrick J. Willems, Bernadette Van Roy, Kristel De Boulle, Lieve Vits, Edwin Reyniers, Olivia Beck, Jan E. Dumon, Annemieke Verkerk, and Ben Oostra

Segregation of the fragile X mutation from an affected male to his normal daughter
Hum. Mol. Genet. 1992 1: 511-515; doi:10.1093/hmg/1.7.511 [Abstract] [PDF] [Request Permissions]  

Vincenzo Nigro, Luisa Politano, Giovanni Nigro, Sergio Colonna Romano, Anna Maria Molinari, and Giovanni Alfredo Puca

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP
Hum. Mol. Genet. 1992 1: 517-520; doi:10.1093/hmg/1.7.517 [Abstract] [PDF] [Request Permissions]  

Andrea I.McClatchey, Carol S.Lin, Jianzhou Wang, Eric P.Hoffman, Cecilia Rojas, and James F.Gusella

The genomic structure of the human skeletal muscle sodium channel gene
Hum. Mol. Genet. 1992 1: 521-527; doi:10.1093/hmg/1.7.521 [Abstract] [PDF] [Request Permissions]  

Kiyotoshi Kaneko, Hisashi Kobayashi, Osamu Onodera, Tadashi Miyatake, and Shoji Tsuji

Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28
Hum. Mol. Genet. 1992 1: 529-533; doi:10.1093/hmg/1.7.529 [Abstract] [PDF] [Request Permissions]  

A. Gregory Matera and David C. Ward

Oligonucleotide probes for the analysis of specific repetitive DNA sequences by fluorescence in situ hybridization
Hum. Mol. Genet. 1992 1: 535-539; doi:10.1093/hmg/1.7.535 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Saskia M.Bijvoet and Michael R.Hayden

Mismatch PCR: a rapid method to screen for the Pro²⁰⁷ Leu mutation in the lipoprotein lipase (LPL) gene
Hum. Mol. Genet. 1992 1: 541; doi:10.1093/hmg/1.7.541 [PDF] [Request Permissions]  

Ada Hamosh, Beryl J. Rosenstein, and Garry R. Cutting

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells
Hum. Mol. Genet. 1992 1: 542-544; doi:10.1093/hmg/1.7.542 [PDF] [Request Permissions]  

Nanette Kälin, Thilo Dörk, Dominique Bozon, and Burkhard Tümmler

A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening
Hum. Mol. Genet. 1992 1: 545-546; doi:10.1093/hmg/1.7.545 [PDF] [Request Permissions]  

HUMAN DNA MARKERS:

D.R. Rosen, P.C. Sapp, J. O'Regan, H.R. Horvitz, D.H. Donaldson, C. Nussbaum, J.F. Gusella, J.L. Haines, S. Pestka, V. Jung, D. Patterson, and R.H. Brown, Jr.

Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1
Hum. Mol. Genet. 1992 1: 547; doi:10.1093/hmg/1.7.547 [PDF] [Request Permissions]  

X. Y. Hauge, R. Litt, and M. Litt

Dinucleotide repeat polymorphisms at the D11S439 and HBB loci
Hum. Mol. Genet. 1992 1: 548; doi:10.1093/hmg/1.7.548 [PDF] [Request Permissions]  

Hong Xiao, Carl R. Merril, and Mihael H. Polymeropoulos

Dinucleotide repeat polymorphism at the D7S476 locus
Hum. Mol. Genet. 1992 1: 549; doi:10.1093/hmg/1.7.549 [PDF] [Request Permissions]  

Mihael H. Polymeropoulos, Hong Xiao, and Carl R. Merril

Dinucleotide repeat polymorphism at the D9SI47E locus
Hum. Mol. Genet. 1992 1: 549; doi:10.1093/hmg/1.7.549-a [PDF] [Request Permissions]  

J.A. Chambers, E. Gardner, R. Hauptmann, B.A.J. Ponder, and L.M. Mulligan

Taql polymorphisms at the annexin VIII locus (ANX8)
Hum. Mol. Genet. 1992 1: 550; doi:10.1093/hmg/1.7.550 [PDF] [Request Permissions]  

L.M. Mulligan, E. Gardner, and B.A.J. Ponder

An Sphl polymorphism at the vinculin locus (VCL)
Hum. Mol. Genet. 1992 1: 550; doi:10.1093/hmg/1.7.550-a [PDF] [Request Permissions]  

L.M. Mulligan, E. Gardner, and B.A.J. Ponder

An Sphl polymorphism at the ZNF22 locus
Hum. Mol. Genet. 1992 1: 551; doi:10.1093/hmg/1.7.551 [PDF] [Request Permissions]  

K.L. Phillips, J.H. Garbutt, A.D. Roses, and J.E. Lee

A chromosome 19 CA-dinucleotide repeat polymorphism
Hum. Mol. Genet. 1992 1: 551; doi:10.1093/hmg/1.7.551-a [PDF] [Request Permissions]  

Ewa Ehrenborg and Catharina Larsson

An EcoRI RFLP at the human insulin-like growth factor binding protein 2 gene (IGFBP2)
Hum. Mol. Genet. 1992 1: 552; doi:10.1093/hmg/1.7.552 [PDF] [Request Permissions]  

Eladio Velasco, Pilar Sanchez-Corral, Felipe Moreno, and Santiago Rodriguez de Cordoba

Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)
Hum. Mol. Genet. 1992 1: 552; doi:10.1093/hmg/1.7.552-a [PDF] [Request Permissions]  

John W.Bare, AIana Rothman, and Ervin Epstein, Jr

Dinucleotide repeat polymorphism at the D18S19 locus
Hum. Mol. Genet. 1992 1: 553; doi:10.1093/hmg/1.7.553 [PDF] [Request Permissions]  

A. Sakurai, G.I. Bell, and L.J. DeGroot

Dinucleotide repeat polymorphism in the human thyroid hormone receptor gene (THRA1) on chromosome 17
Hum. Mol. Genet. 1992 1: 553; doi:10.1093/hmg/1.7.553-a [PDF] [Request Permissions]  

Masamitsu Honma, Khonosuke Mitani, Hiroshi Mizusawa, Toshio Sofuni, Masami Muramatsu, and Ryo Kominami

A new VNTR-type RFLP probe (TM-18) on chromosome 1 (D1S157)
Hum. Mol. Genet. 1992 1: 554; doi:10.1093/hmg/1.7.554 [PDF] [Request Permissions]  

Masamitsu Honma, Khonosuke Mitani, Hiroshi Mizusawa, Toshio Sofuni, Masami Muramatsu, and Ryo Kominami

A new VNTR-type RFLP probe (ChdTC-114) on chromosome 20p (D20S72)
Hum. Mol. Genet. 1992 1: 554; doi:10.1093/hmg/1.7.554-a [PDF] [Request Permissions]  

Masamitsu Honma, Khonosuke Mitani, Hiroshi Mizusawa, Toshio Sofuni, Masami Muramatsu, and Ryo Kominami

A new VNTR-type RELP probe (ChdTC-15) on chromosome 12 (D12S65)
Hum. Mol. Genet. 1992 1: 555; doi:10.1093/hmg/1.7.555 [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1992 1: 557; doi:10.1093/hmg/1.7.557 [PDF] [Request Permissions]  

ERRATUM:

K. Tamaki, D.G. Monckton, A. MacLeod, D.L. Neil, M. Allen, and A.J. Jeffreys

Erratum: Minisatellite variant repeat (MVR) mapping: analysis of ‘null’ repeat units at D1S8
Hum. Mol. Genet. 1992 1: 558; doi:10.1093/hmg/1.7.558 [Abstract] [PDF] [Request Permissions]  

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