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Volume 50(4);  1992 Apr

The cover of the journal

Human genetics: the last 35 years, the present, and the future.
V A McKusick
Am J Hum Genet. 1992 Apr; 50(4): 663–670.
PMCID:
PMC1682647
Summary Page Browse PDF–1.1MCite
Early British discoveries in human genetics: contributions of R.A. Fisher and J.B.S. Haldane to the development of blood groups.
W F Bodmer
Am J Hum Genet. 1992 Apr; 50(4): 671–676.
PMCID:
PMC1682622
Summary Page Browse PDF–1.2MCite
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
G A Greenhaw, A Hebert, M E Duke-Woodside, I J Butler, J T Hecht, J E Cleaver, G H Thomas, W A Horton
Am J Hum Genet. 1992 Apr; 50(4): 677–689.
PMCID:
PMC1682634
Summary Page Browse PDF–2.9MCite
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
L Pentao, R A Lewis, D H Ledbetter, P I Patel, J R Lupski
Am J Hum Genet. 1992 Apr; 50(4): 690–699.
PMCID:
PMC1682625
Summary Page Browse PDF–1.7MCite
Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique.
C Rosenberg, K J Blakemore, W G Kearns, R A Giraldez, C S Escallon, P L Pearson, G Stetten
Am J Hum Genet. 1992 Apr; 50(4): 700–705.
PMCID:
PMC1682652
Summary Page Browse PDF–1.5MCite
A chromosome 14-specific human satellite III DNA subfamily that shows variable presence on different chromosomes 14.
K H Choo, E Earle, B Vissel, P Kalitsis
Am J Hum Genet. 1992 Apr; 50(4): 706–716.
PMCID:
PMC1682629
Summary Page Browse PDF–2.3MCite
Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations.
E Earle, L G Shaffer, P Kalitsis, C McQuillan, S Dale, K H Choo
Am J Hum Genet. 1992 Apr; 50(4): 717–724.
PMCID:
PMC1682650
Summary Page Browse PDF–1.4MCite
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.
J P Giacalone, U Francke
Am J Hum Genet. 1992 Apr; 50(4): 725–741.
Correction in:
Am J Hum Genet, volume 51 on page 226
PMCID:
PMC1682635
Summary Page Browse PDF–3.1MCite
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.
J M Puck, C C Stewart, R L Nussbaum
Am J Hum Genet. 1992 Apr; 50(4): 742–748.
PMCID:
PMC1682632
Summary Page Browse PDF–1.0MCite
An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance.
C Hayward, J Livingstone, S Holloway, W A Liston, D J Brock
Am J Hum Genet. 1992 Apr; 50(4): 749–757.
PMCID:
PMC1682648
Summary Page Browse PDF–1.2MCite
Absence of the Asian-specific region V mitochondrial marker in Native Beringians.
G F Shields, K Hecker, M I Voevoda, J K Reed
Am J Hum Genet. 1992 Apr; 50(4): 758–765.
PMCID:
PMC1682655
Summary Page Browse PDF–1.2MCite
Evolutionary origin of mutations in the primate cytochrome P450c21 gene.
H Kawaguchi, C O'hUigin, J Klein
Am J Hum Genet. 1992 Apr; 50(4): 766–780.
PMCID:
PMC1682642
Summary Page Browse PDF–1.8MCite
Origin heterogeneity of Hb Lepore-Boston gene in Italy
G. Fioretti, M. De Angioletti, F. Masciangelo, G. Lacerra, A. Scarallo, C. de Bonis, L. Pagano, E. Guarino, L. De Rosa, F. Salvati, C. Carestia
Am J Hum Genet. 1992 Apr; 50(4): 781–786.
PMCID:
PMC1682630
Summary Page Browse PDF–1.0MCite
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.
L J Ashton, D A Brooks, P A McCourt, V J Muller, P R Clements, J J Hopwood
Am J Hum Genet. 1992 Apr; 50(4): 787–794.
PMCID:
PMC1682646
Summary Page Browse PDF–1.1MCite
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
W D Jin, C E Jackson, R J Desnick, E H Schuchman
Am J Hum Genet. 1992 Apr; 50(4): 795–800.
PMCID:
PMC1682624
Summary Page Browse PDF–1.0MCite
Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.
J C Oosterwijk, M Nelen, P M van Zandvoort, L D van Osch, A P Oranje, D Wittebol-Post, B A van Oost
Am J Hum Genet. 1992 Apr; 50(4): 801–807.
PMCID:
PMC1682639
Summary Page Browse PDF–834KCite
Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.
K G Kupke, M B Graeber, U Müller
Am J Hum Genet. 1992 Apr; 50(4): 808–815.
PMCID:
PMC1682654
Summary Page Browse PDF–1.1MCite
PCR amplification of alleles at the DIS80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation.
A Sajantila, B Budowle, M Ström, V Johnsson, M Lukka, L Peltonen, C Ehnholm
Am J Hum Genet. 1992 Apr; 50(4): 816–825.
PMCID:
PMC1682638
Summary Page Browse PDF–1.8MCite
The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3.
D G Ginzinger, V Shridhar, A Baldini, R T Taggart, O J Miller, D I Smith
Am J Hum Genet. 1992 Apr; 50(4): 826–833.
PMCID:
PMC1682661
Summary Page Browse PDF–1.7MCite
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
E H Mules, S Hayflick, C S Miller, L W Reynolds, G H Thomas
Am J Hum Genet. 1992 Apr; 50(4): 834–841.
PMCID:
PMC1682641
Summary Page Browse PDF–1.0MCite
PRB2/1 fusion gene: a product of unequal and homologous crossing-over between proline-rich protein (PRP) genes PRB1 and PRB2.
E A Azen, P O'Connell, H S Kim
Am J Hum Genet. 1992 Apr; 50(4): 842–851.
PMCID:
PMC1682657
Summary Page Browse PDF–2.7MCite
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
Y Tatuch, J Christodoulou, A Feigenbaum, J T Clarke, J Wherret, C Smith, N Rudd, R Petrova-Benedict, B H Robinson
Am J Hum Genet. 1992 Apr; 50(4): 852–858.
PMCID:
PMC1682643
Summary Page Browse PDF–1.1MCite
A multilocus extension of the affected-pedigree-member method of linkage analysis.
D E Weeks, K Lange
Am J Hum Genet. 1992 Apr; 50(4): 859–868.
PMCID:
PMC1682645
Summary Page Browse PDF–1.2MCite
Whose DNA?
B S Weir, I W Evett
Am J Hum Genet. 1992 Apr; 50(4): 869.
PMCID:
PMC1682623
Summary Page Browse PDF–106KCite
Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate.
C Stoll, J F Qian, J Feingold, P Sauvage, E May
Am J Hum Genet. 1992 Apr; 50(4): 870–871.
PMCID:
PMC1682627
Summary Page Browse PDF–311KCite
Identification of heterogeneous PrP gene deletions in controls by detection of allele-specific heteroduplexes (DASH)
C L Vnencak-Jones, J A Phillips, 3rd
Am J Hum Genet. 1992 Apr; 50(4): 871–872.
PMCID:
PMC1682631
Summary Page Browse PDF–344KCite
Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.
D R Johns
Am J Hum Genet. 1992 Apr; 50(4): 872–874.
PMCID:
PMC1682636
Summary Page Browse PDF–525KCite
The 4% solution (approximately)
F C Fraser
Am J Hum Genet. 1992 Apr; 50(4): 874–875.
PMCID:
PMC1682644
Summary Page Browse PDF–294KCite
Viability of skin biopsies stored at -70 degrees C.
M Crawford, R Cotton
Am J Hum Genet. 1992 Apr; 50(4): 875.
PMCID:
PMC1682658
Summary Page Browse PDF–122KCite
The cystic fibrosis delta F508 mutation in the Albanian population.
G Novelli, F Sangiuolo, V Mokini, M Cikuli, A Piazza, B Dallapiccola
Am J Hum Genet. 1992 Apr; 50(4): 875–876.
PMCID:
PMC1682660
Summary Page Browse PDF–281KCite
Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.
A Artlich, M Horn, B Lorenz, S Bhattacharga, A Gal
Am J Hum Genet. 1992 Apr; 50(4): 876–878.
PMCID:
PMC1682649
Summary Page Browse PDF–802KCite

Book Reviews

Principles and practice of medical genetics
Robert P. Erickson
Am J Hum Genet. 1992 Apr; 50(4): 879–880.
PMCID:
PMC1682651
Summary Page Browse PDF–313KCite
The chromosomes in human cancer
Sandra R. Wolman
Am J Hum Genet. 1992 Apr; 50(4): 880–881.
PMCID:
PMC1682653
Summary Page Browse PDF–367KCite
Ecogenetics: Genetic predisposition to the toxic effects of chemicals
Arno G. Motulsky
Am J Hum Genet. 1992 Apr; 50(4): 881–882.
PMCID:
PMC1682656
Summary Page Browse PDF–368KCite
The identification of the CF (Cystic fibrosis) gene: Recent progress and new research strategies
John P. Johnson
Am J Hum Genet. 1992 Apr; 50(4): 882–883.
PMCID:
PMC1682659
Summary Page Browse PDF–209KCite

Correction

Erratum
Am J Hum Genet. 1992 Apr; 50(4): 885.
Corrects:
Am J Hum Genet. 1991 Dec; 49(6): 1378–1380.
PMCID:
PMC1682626
Correction PDF–12KCite

Journal Matter

Original table of contents page
PDF–226K
Administrative content — journal masthead, notices, indexes, etc.
PDF–1.6M
Advertisements
PDF–1.2M
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics