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Volume 51(5);  1992 Nov

The cover of the journal

American Board of Medical Genetics restructuring: make an informed decision.
A Heimler, J Benkendorf, E Gettig, E Reich, S Schmerler, H Travers
Am J Hum Genet. 1992 Nov; 51(5): v–vii.
PMCID:
PMC1682844
Summary Page Browse PDF–375KCite
Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.
C R Scriver, T M Fujiwara
Am J Hum Genet. 1992 Nov; 51(5): 943–950.
PMCID:
PMC1682854
Summary Page Browse PDF–1.3MCite
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
D Abeliovich, I P Lavon, I Lerer, T Cohen, C Springer, A Avital, G R Cutting
Am J Hum Genet. 1992 Nov; 51(5): 951–956.
PMCID:
PMC1682830
Summary Page Browse PDF–843KCite
A prospective cytogenetic study of 36 cases of DiGeorge syndrome
D. I. Wilson, I. E. Cross, J. A. Goodship, J. Brown, P. J. Scambler, H. H. Bain, J. F. N. Taylor, K. Walsh, A. Bankier, J. Burn, J. Wolstenholme
Am J Hum Genet. 1992 Nov; 51(5): 957–963.
PMCID:
PMC1682842
Summary Page Browse PDF–1.0MCite
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
A. H. Carey, D. Kelly, S. Halford, R. Wadey, D. Wilson, J. Goodship, J. Burn, T. Paul, A. Sharkey, J. Dumanski, M. Nordenskjold, R. Williamson, P. J. Scambler
Am J Hum Genet. 1992 Nov; 51(5): 964–970.
PMCID:
PMC1682857
Summary Page Browse PDF–1.2MCite
A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.
L L Estabrooks, A N Lamb, H N Kirkman, N P Callanan, K W Rao
Am J Hum Genet. 1992 Nov; 51(5): 971–978.
PMCID:
PMC1682839
Summary Page Browse PDF–1.4MCite
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
J R Hawkins, A Taylor, P N Goodfellow, C J Migeon, K D Smith, G D Berkovitz
Am J Hum Genet. 1992 Nov; 51(5): 979–984.
PMCID:
PMC1682856
Summary Page Browse PDF–1.0MCite
A new source of polymorphic DNA markers for sperm typing: analysis of microsatellite repeats in single cells.
R Hubert, J L Weber, K Schmitt, L Zhang, N Arnheim
Am J Hum Genet. 1992 Nov; 51(5): 985–991.
PMCID:
PMC1682826
Summary Page Browse PDF–1.1MCite
Independence of VNTR alleles defined as floating bins.
B S Weir
Am J Hum Genet. 1992 Nov; 51(5): 992–997.
PMCID:
PMC1682849
Summary Page Browse PDF–864KCite
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region
Kouzin Kamino, Harry T. Orr, Haydeh Payami, Ellen M. Wijsman, Ma. Elisa Alonso, Stefan M. Pulst, Leojean Anderson, Sheldon O'dahl, Ellen Nemens, June A. White, Adele D. Sadovnick, Melvyn J. Ball, Jeffery Kaye, Andrew Warren, Melvin McInnis, Stylianos E. Antonarakis, Julie R. Korenberg, Vikram Sharma, Walter Kukull, Eric Larson, Leonard L. Heston, George M. Martin, Thomas D. Bird, Gerard D. Schellenberg
Am J Hum Genet. 1992 Nov; 51(5): 998–1014.
PMCID:
PMC1682859
Summary Page Browse PDF–3.2MCite
DNA polymorphism analysis in families with recurrence of free trisomy 21
Constantinos G. Pangalos, C. Conover Talbot, John G. Lewis, Patricia A. Adelsberger, Michael B. Petersen, Jean-Louis Serre, Marie-Odile Rethoré, Marie-Christine de Blois, Philipe Parent, Albert A. Schinzel, Franz Binkert, Joelle Boue, Elisabeth Corbin, M. F. Croquette, Simone Gilgenkrantz, Jean de Grouchy, M. F. Bertheas, Marguerite Prieur, Odile Raoul, Francoise Serville, J. P. Siffroi, Francois Thepot, Jerome Lejeune, Stylianos E. Antonarakis
Am J Hum Genet. 1992 Nov; 51(5): 1015–1027.
PMCID:
PMC1682858
Summary Page Browse PDF–1.4MCite
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM.
R A Bascom, J García-Heras, C L Hsieh, D S Gerhard, C Jones, U Francke, H F Willard, D H Ledbetter, R R McInnes
Am J Hum Genet. 1992 Nov; 51(5): 1028–1035.
PMCID:
PMC1682851
Summary Page Browse PDF–1.5MCite
High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus
J. Zonana, M. Jones, D. Browne, M. Litt, P. Kramer, H. W. Becker, N. Brockdorff, S. Rastan, K. P. Davies, A. Clarke, N. S. T. Thomas
Am J Hum Genet. 1992 Nov; 51(5): 1036–1046.
PMCID:
PMC1682855
Summary Page Browse PDF–1.4MCite
Genetic determination of high-density lipoprotein-cholesterol and apolipoprotein A-1 plasma levels in a family study of cardiac catheterization patients.
V L Prenger, T H Beaty, P O Kwiterovich
Am J Hum Genet. 1992 Nov; 51(5): 1047–1057.
PMCID:
PMC1682843
Summary Page Browse PDF–1.6MCite
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.
R A Spritz, S A Holmes, R Ramesar, J Greenberg, D Curtis, P Beighton
Am J Hum Genet. 1992 Nov; 51(5): 1058–1065.
Correction in:
Am J Hum Genet. 1993 Mar; 52(3): 654.
PMCID:
PMC1682829
Summary Page Browse PDF–1.4MCite
DNA polymorphism of alkaline phosphatase isozyme genes: linkage disequilibria between placental and germ-cell alkaline phosphatase alleles.
G Beckman, L Beckman, C Sikström, J L Millán
Am J Hum Genet. 1992 Nov; 51(5): 1066–1070.
PMCID:
PMC1682846
Summary Page Browse PDF–675KCite
The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
G A McDowell, E H Mules, P Fabacher, E Shapira, M G Blitzer
Am J Hum Genet. 1992 Nov; 51(5): 1071–1077.
PMCID:
PMC1682822
Summary Page Browse PDF–1.0MCite
Structure and chromosomal localization of the human antidiuretic hormone receptor gene.
A Seibold, P Brabet, W Rosenthal, M Birnbaumer
Am J Hum Genet. 1992 Nov; 51(5): 1078–1083.
PMCID:
PMC1682836
Summary Page Browse PDF–955KCite
Testing Hardy-Weinberg equilibrium on allelic data from VNTR loci.
S Geisser, W Johnson
Am J Hum Genet. 1992 Nov; 51(5): 1084–1088.
PMCID:
PMC1682848
Summary Page Browse PDF–569KCite
X-linked nephrogenic diabetes insipidus: From the ship hopewell to RFLP studies
Daniel G. Bichet, Geoffrey N. Hendy, Michèle Lonergan, Marie-Françoise Arthus, Sophie Ligier, Zdenka Pausova, Rüdiger Kluge, Hans Zingg, Paul Saenger, Ellen Oppenheimer, David J. Hirsch, Simone Gilgenkrantz, Jean-Pierre Salles, Isabelle Oberlé, Jean-Louis Mandel, Martin C. Gregory, T. Mary Fujiwara, Kenneth Morgan, Charles R. Scriver
Am J Hum Genet. 1992 Nov; 51(5): 1089–1102.
PMCID:
PMC1682824
Summary Page Browse PDF–1.5MCite
Linkage disequilibrium among RFLPs at the insulin-receptor locus despite intervening Alu repeat sequences.
S C Elbein
Am J Hum Genet. 1992 Nov; 51(5): 1103–1110.
PMCID:
PMC1682860
Summary Page Browse PDF–1.1MCite
A Monte Carlo method for combined segregation and linkage analysis.
S W Guo, E A Thompson
Am J Hum Genet. 1992 Nov; 51(5): 1111–1126.
PMCID:
PMC1682838
Summary Page Browse PDF–2.2MCite
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
M de Boer, A de Klein, J P Hossle, R Seger, L Corbeel, R S Weening, D Roos
Am J Hum Genet. 1992 Nov; 51(5): 1127–1135.
PMCID:
PMC1682833
Summary Page Browse PDF–1.6MCite
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
R J Gibbons, G K Suthers, A O Wilkie, V J Buckle, D R Higgs
Am J Hum Genet. 1992 Nov; 51(5): 1136–1149.
PMCID:
PMC1682840
Summary Page Browse PDF–2.1MCite
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.
M R Passos-Bueno, E Bakker, A L Kneppers, R I Takata, D Rapaport, J T den Dunnen, M Zatz, G J van Ommen
Am J Hum Genet. 1992 Nov; 51(5): 1150–1155.
PMCID:
PMC1682835
Summary Page Browse PDF–739KCite
A cooperative binomial ascertainment model.
E Kh Ginsburg, T I Axenovich
Am J Hum Genet. 1992 Nov; 51(5): 1156–1160.
PMCID:
PMC1682847
Summary Page Browse PDF–737KCite
National Institutes of Health Workshop Statement. Reproductive genetic testing: impact on women.
Am J Hum Genet. 1992 Nov; 51(5): 1161–1163.
PMCID:
PMC1682823
Summary Page Browse PDF–481KCite
The forensic DNA brouhaha: science or debate?
J Wooley, R P Harmon
Am J Hum Genet. 1992 Nov; 51(5): 1164–1165.
PMCID:
PMC1682825
Summary Page Browse PDF–288KCite
The ceiling principle is not always conservative in assigning genotype frequencies for forensic DNA testing.
J E Cohen
Am J Hum Genet. 1992 Nov; 51(5): 1165–1168.
PMCID:
PMC1682827
Summary Page Browse PDF–662KCite
Conflicts, ethics, and the genome.
P R Billings, A Lippman, N Wilker
Am J Hum Genet. 1992 Nov; 51(5): 1168.
PMCID:
PMC1682837
Summary Page Browse PDF–146KCite
DNA banking.
P R Reilly
Am J Hum Genet. 1992 Nov; 51(5): 1169–1170.
PMCID:
PMC1682841
Summary Page Browse PDF–360KCite
The need for care in the use of linkage analysis for genetic diagnosis in small families, with particular reference to uniparental disomy.
C G Woods, J H Edwards
Am J Hum Genet. 1992 Nov; 51(5): 1171–1172.
PMCID:
PMC1682845
Summary Page Browse PDF–343KCite
An association between manic-depressive illness and a pseudoautosomal DNA marker.
H Yoneda, T Sakai, T Ishida, Y Inayama, Y Nonomura, Y Kono, H Asaba
Am J Hum Genet. 1992 Nov; 51(5): 1172–1173.
PMCID:
PMC1682850
Summary Page Browse PDF–313KCite
Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.
M Macek, Jr, L Ladanyi, J Bürger, A Reis
Am J Hum Genet. 1992 Nov; 51(5): 1173–1174.
PMCID:
PMC1682853
Summary Page Browse PDF–424KCite

Book Review

Advances in human genetics
Helga V. Toriello
Am J Hum Genet. 1992 Nov; 51(5): 1175–1176.
PMCID:
PMC1682852
Summary Page Browse PDF–160KCite

Journal Matter

Original table of contents page
PDF–248K
Administrative content — journal masthead, notices, indexes, etc.
PDF–1.3M
Advertisements
PDF–1.3M
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics