Human Molecular Genetics

MINI REVIEWS:

Nicholas D. Hastie

Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome—proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development
Hum. Mol. Genet. 1992 1: 293-295; doi:10.1093/hmg/1.5.293 [PDF] [Request Permissions]  

David H. Ledbetter

The ‘colorizing’ of cytogenetics: is it ready for prime time?
Hum. Mol. Genet. 1992 1: 297-299; doi:10.1093/hmg/1.5.297 [PDF] [Request Permissions]  

ORIGINAL ARTICLES:

Paul N. Baird, Ana Santos, Natalie Groves, Lyda Jadresic, and John K. Cowell

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome
Hum. Mol. Genet. 1992 1: 301-305; doi:10.1093/hmg/1.5.301 [Abstract] [PDF] [Request Permissions]  

Thomas Ried, Greg Landes, William Dackowski, Katherine Klinger, and David C. Ward

Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells
Hum. Mol. Genet. 1992 1: 307-313; doi:10.1093/hmg/1.5.307 [Abstract] [PDF] [Request Permissions]  

Kazuhiro Tsukamoto, Takaya Tohma, Tohru Ohta, Kazuhiro Yamakawa, Yoshimitsu Fukushima, Yusuke Nakamura, and Norio Niikawa

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I
Hum. Mol. Genet. 1992 1: 315-317; doi:10.1093/hmg/1.5.315 [Abstract] [PDF] [Request Permissions]  

John A. L. Armour, Gilles Vergnaud, Moira Crosier, and Alec J. Jeffreys

Isolation of human minisatellite loci detected by synthetic tandem repeat probes: direct comparison with cloned DNA fingerprinting probes
Hum. Mol. Genet. 1992 1: 319-323; doi:10.1093/hmg/1.5.319 [Abstract] [PDF] [Request Permissions]  

Ortrud Steinlein, Christine Fischer, Ralf Keil, Rafal Smigrodzki, and Friedrich Vogel

D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands
Hum. Mol. Genet. 1992 1: 325-329; doi:10.1093/hmg/1.5.325 [Abstract] [PDF] [Request Permissions]  

Alessia Martinotti, Claudia T. Cariani, Cecilia Melani, Gabriella Sozzi, N. K. Spurr, Marco A. Pierotti, and Mario P. Colombo

Isolation and mapping to 17p12 – 13 of the human homologous of the murine growth arrest specific Gas-3 gene
Hum. Mol. Genet. 1992 1: 331-334; doi:10.1093/hmg/1.5.331 [Abstract] [PDF] [Request Permissions]  

Susanna Bunge, Cordula Steglich, Michael Beck, Walter Rosenkranz, Eberhard Schwinger, John J. Hopwood, and Andreas Gal

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)
Hum. Mol. Genet. 1992 1: 335-339; doi:10.1093/hmg/1.5.335 [Abstract] [PDF] [Request Permissions]  

P. H. Johnson and D. A. Hopkinson

Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis
Hum. Mol. Genet. 1992 1: 341-344; doi:10.1093/hmg/1.5.341 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORT:

Fawzy A. Saad, Libero Vitiello, Luciano Merlini, Maria L. Mostacciuolo, Salvatore Oliviero, and Gian A. Danieli

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions
Hum. Mol. Genet. 1992 1: 345-346; doi:10.1093/hmg/1.5.345 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

F.A. Hol, M.P.A. Geurds, B.C.J. Hamel, and E.C.M. Mariman

Improving the polymorphism content of the 3' UTR of the human IGF2R gene
Hum. Mol. Genet. 1992 1: 347; doi:10.1093/hmg/1.5.347 [PDF] [Request Permissions]  

Karen A. Glatt, Daniel Sinnett, and Marc Lalande

Dinucleotide repeat polymorphism at the GABA_A receptor 5 (GABRA5) locus at chromosome 15q11-q13
Hum. Mol. Genet. 1992 1: 348; doi:10.1093/hmg/1.5.348 [PDF] [Request Permissions]  

Konstantin E. Petrukhin, Nikolai N. Modyanov, and T. Conrad Gilliam

Dinucleotide repeat polymorphism at the D4S251 locus
Hum. Mol. Genet. 1992 1: 349; doi:10.1093/hmg/1.5.349 [PDF] [Request Permissions]  

Margret R. Hoehe, Wade H. Berrettini, Debra A. Schwinn, and Wang-Ting Hsieh

A two-allele Pstl RFLP for the alpha-1C adrenergic receptor gene (ADRA1C)
Hum. Mol. Genet. 1992 1: 349; doi:10.1093/hmg/1.5.349-a [PDF] [Request Permissions]  

J. Goto, F. Tassone, S. Demczuk, K. Gardiner, D.A. Figlewicz, N. Khodr, and G.A. Rouleau

Dinucleotide repeat polymorphism at the D21S65 locus
Hum. Mol. Genet. 1992 1: 350; doi:10.1093/hmg/1.5.350 [PDF] [Request Permissions]  

G. Rumsby, R. Jones, C. J. Danpure, and C. T. Samuell

Taql polymorphism at the alanine: glyoxylate aminotransferase (AGXT) gene locus
Hum. Mol. Genet. 1992 1: 350; doi:10.1093/hmg/1.5.350-a [PDF] [Request Permissions]  

Barton S. Johnson, Barbara A. Brooks, Herminio Reyes, Emily C. Hoffman, and Oliver Hankinson

An Mspl RFLP in the human ARNT gene, encoding a subunit of the nuclear form of the Ah (dioxin) receptor
Hum. Mol. Genet. 1992 1: 351; doi:10.1093/hmg/1.5.351 [PDF] [Request Permissions]  

M.A.R. Yuille, D.R. Goudie, N.A. Affara, and M.A. Ferguson-Smith

Additional polymorphism at a CHR 9 reference locus (D9S12)
Hum. Mol. Genet. 1992 1: 351; doi:10.1093/hmg/1.5.351-a [PDF] [Request Permissions]  

J.W. Simons, J.D. Oliner, K.R. Cho, K.W. Kinzler, and B. Vogelstein

SAM 1.1 and JOSH 4.4: two RFLPs within the human DCC gene
Hum. Mol. Genet. 1992 1: 352; doi:10.1093/hmg/1.5.352 [PDF] [Request Permissions]  

S. Cottrell and W.F. Bodmer

Two Mspl polymorphisms within the APC gene
Hum. Mol. Genet. 1992 1: 352; doi:10.1093/hmg/1.5.352-a [PDF] [Request Permissions]  

A.G. Wilson, F.S. di Giovine, A.I.F. Blakemore, and G.W. Duff

Single base polymorphism in the human Tumour Necrosis Factor alpha (TNF) gene detectable by Ncol restriction of PCR product
Hum. Mol. Genet. 1992 1: 353; doi:10.1093/hmg/1.5.353 [PDF] [Request Permissions]  

Michael Pröschel, A. Saunders, A.D. Roses, and C.R. Möller

Dinucleotide repeat polymorphism at the human gene for the brainderived neurotrophic factor (BDNF)
Hum. Mol. Genet. 1992 1: 353; doi:10.1093/hmg/1.5.353-a [PDF] [Request Permissions]  

L.del Senno, G.L. Aguiari, and R. Piva

Dinucleotide repeat polymorphism in the human estrogen receptor (ESR) gene
Hum. Mol. Genet. 1992 1: 354; doi:10.1093/hmg/1.5.354 [PDF] [Request Permissions]  

M. Hollyoake, W. Putt, Y.H. Edwards, and D.B. Whitehouse

Two Taql polymorphisms at the human PGM1 locus
Hum. Mol. Genet. 1992 1: 354; doi:10.1093/hmg/1.5.354-a [PDF] [Request Permissions]  

A. von Deimling, F. von Deimling, D.N. Louis, J. Trofatter, J.F. Gusella, and B.R. Seizinger

A Rsal polymorphism in the ERCC2 locus
Hum. Mol. Genet. 1992 1: 355; doi:10.1093/hmg/1.5.355 [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.