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Volume 47(2);  August 1990

The cover of the journal

The fragile X: progress toward solving the puzzle.
W T Brown
Am J Hum Genet. Aug 1990; 47(2): 175–180.
PMCID:
PMC1683734
Summary Page Browse PDF–977K
Microdissection of the fragile X region.
R N MacKinnon, M C Hirst, M V Bell, J E Watson, U Claussen, H J Ludecke, G Senger, B Horsthemke, K E Davies
Am J Hum Genet. Aug 1990; 47(2): 181–186.
PMCID:
PMC1683707
Summary Page Browse PDF–1.4M
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines
G. K. Suthers, V. J. Hyland, D. F. Callen, I. Oberle, M. Rocchi, N. S. Thomas, C. P. Morris, C. E. Schwartz, M. Schmidt, H. H. Ropers, E. Baker, B. A. Oostra, N. Dahl, P. J. Wilson, J. J. Hopwood, G. R. Sutherland
Am J Hum Genet. Aug 1990; 47(2): 187–195.
PMCID:
PMC1683725
Summary Page Browse PDF–1.3M
Genetic determination of fragile-site expression.
D Smeets, A Arets
Am J Hum Genet. Aug 1990; 47(2): 196–201.
PMCID:
PMC1683704
Summary Page Browse PDF–836K
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.
D D Koeberl, C D Bottema, R P Ketterling, P J Bridge, D P Lillicrap, S S Sommer
Am J Hum Genet. Aug 1990; 47(2): 202–217.
PMCID:
PMC1683712
Summary Page Browse PDF–2.5M
Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scores.
M Boehnke
Am J Hum Genet. Aug 1990; 47(2): 218–227.
PMCID:
PMC1683715
Summary Page Browse PDF–1.5M
Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15
Massimo Pandolfo, Giorgio Sirugo, Antonella Antonelli, Leonor Weitnauer, Luca Ferretti, Maurizio Leone, Ivano Dones, Antonella Cerino, Ricardo Fujita, Andre Hanauer, Jean-Louis Mandel, Stefano Di Donato
Am J Hum Genet. Aug 1990; 47(2): 228–235.
PMCID:
PMC1683703
Summary Page Browse PDF–1.0M
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype
Julie R. Korenberg, Hiroko Kawashima, Stefan-M. Pulst, T. Ikeuchi, N. Ogasawara, K. Yamamoto, Steven A. Schonberg, Ruth West, Leland Allen, Ellen Magenis, K. Ikawa, N. Taniguchi, Charles J. Epstein
Am J Hum Genet. Aug 1990; 47(2): 236–246.
PMCID:
PMC1683719
Summary Page Browse PDF–2.0M
A multivariate method for detecting genetic linkage, with application to a pedigree with an adverse lipoprotein phenotype.
C I Amos, R C Elston, G E Bonney, B J Keats, G S Berenson
Am J Hum Genet. Aug 1990; 47(2): 247–254.
PMCID:
PMC1683708
Summary Page Browse PDF–1.3M
Joint estimation of recombination fractions and interference coefficients in multilocus linkage analysis.
L P Zhao, E Thompson, R Prentice
Am J Hum Genet. Aug 1990; 47(2): 255–265.
PMCID:
PMC1683726
Summary Page Browse PDF–1.5M
Effective testing of gene-disease associations.
M Swift, L L Kupper, C L Chase
Am J Hum Genet. Aug 1990; 47(2): 266–274.
PMCID:
PMC1683710
Summary Page Browse PDF–1.2M
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
N Dahl, M Lagerström, A Erikson, U Pettersson
Am J Hum Genet. Aug 1990; 47(2): 275–278.
PMCID:
PMC1683716
Summary Page Browse PDF–637K
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
D W Howells, S M Forrest, H H Dahl, R G Cotton
Am J Hum Genet. Aug 1990; 47(2): 279–285.
PMCID:
PMC1683733
Summary Page Browse PDF–1.3M
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
H H Dahl, C Maragos, R M Brown, L L Hansen, G K Brown
Am J Hum Genet. Aug 1990; 47(2): 286–293.
PMCID:
PMC1683706
Summary Page Browse PDF–1.5M
Participation of Indo-European tribes in ethnogeny of the mongoloid population of Siberia: analysis of the HLA antigen distribution in mongoloids of Siberia.
V V Fefelova
Am J Hum Genet. Aug 1990; 47(2): 294–301.
PMCID:
PMC1683723
Summary Page Browse PDF–1.0M
Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.
M De Braekeleer, J Larochelle
Am J Hum Genet. Aug 1990; 47(2): 302–307.
PMCID:
PMC1683702
Summary Page Browse PDF–787K
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
R M Tanguay, J P Valet, A Lescault, J L Duband, C Laberge, F Lettre, M Plante
Am J Hum Genet. Aug 1990; 47(2): 308–316.
PMCID:
PMC1683717
Summary Page Browse PDF–2.0M
Visceral pathology of hereditary tyrosinemia type I.
P Russo, S O'Regan
Am J Hum Genet. Aug 1990; 47(2): 317–324.
PMCID:
PMC1683701
Summary Page Browse PDF–2.7M
Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
C Laberge, A Grenier, J P Valet, J Morissette
Am J Hum Genet. Aug 1990; 47(2): 325–328.
PMCID:
PMC1683713
Summary Page Browse PDF–625K
Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I.
C Laberge, A Lescault, A Grenier, J Morrisette, R Gagné, P Gadbois, J Halket
Am J Hum Genet. Aug 1990; 47(2): 329–337.
PMCID:
PMC1683732
Summary Page Browse PDF–1.6M
Liver transplantation for hereditary tyrosinemia: the Quebec experience.
K Paradis, A Weber, E G Seidman, J Larochelle, L Garel, C Lenaerts, C C Roy
Am J Hum Genet. Aug 1990; 47(2): 338–342.
PMCID:
PMC1683709
Summary Page Browse PDF–706K
1989 American society of human genetics social issues committee report
Am J Hum Genet. Aug 1990; 47(2): 343–344.
PMCID:
PMC1683714
Summary Page Browse PDF–266K
American Society of Human Genetics membership survey results, 1989.
K L Garver, K M Lent
Am J Hum Genet. Aug 1990; 47(2): 345–348.
PMCID:
PMC1683728
Summary Page Browse PDF–830K
Sex ratio among sperm cells.
R H Martin
Am J Hum Genet. Aug 1990; 47(2): 349–351.
PMCID:
PMC1683737
Summary Page Browse PDF–479K
Progenitive sex ratio among functioning sperm cells.
B Bean
Am J Hum Genet. Aug 1990; 47(2): 351–353.
PMCID:
PMC1683735
Summary Page Browse PDF–499K
The patent of a screening test.
J L Waurin
Am J Hum Genet. Aug 1990; 47(2): 353–354.
PMCID:
PMC1683711
Summary Page Browse PDF–145K
Reply to Waurin
Mark H. Bogart, O. W. Jones
Am J Hum Genet. Aug 1990; 47(2): 353–354.
PMCID:
PMC1683718
Summary Page Browse PDF–311K
Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.
Am J Hum Genet. Aug 1990; 47(2): 354–359.
Correction in:
Am J Hum Genet. Jan 1991; 48(1): 176.
PMCID:
PMC1683705
Summary Page Browse PDF–615K Correction
Carrier screening for cystic fibrosis and other autosomal recessive diseases.
L P ten Kate
Am J Hum Genet. Aug 1990; 47(2): 359–361.
PMCID:
PMC1683720
Summary Page Browse PDF–291K

Book Reviews

Tourette syndrome and human behavior
Susan E. Folstein
Am J Hum Genet. Aug 1990; 47(2): 362–363.
PMCID:
PMC1683722
Summary Page Browse PDF–296K
Tourette syndome and human behavior
Arthur Robinson
Am J Hum Genet. Aug 1990; 47(2): 363.
PMCID:
PMC1683729
Summary Page Browse PDF–162K
The politics of woman's biology
Florence P. Haseltine
Am J Hum Genet. Aug 1990; 47(2): 364.
PMCID:
PMC1683724
Summary Page Browse PDF–198K
The biological basis of disease: Selected papers by P. R. J. Burch
George M. Martin
Am J Hum Genet. Aug 1990; 47(2): 364–365.
PMCID:
PMC1683730
Summary Page Browse PDF–220K

Journal Matter

Original table of contents page
PDF–185K
Administrative content — journal masthead, notices, indexes, etc.
PDF–1.3M
Advertisements
PDF–563K
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics