Title | Date | Reference | Authors | Call # | ISSN | ||
---|---|---|---|---|---|---|---|
Segregation analysis detects a major gene controlling blood infection levels in human malaria | 1992 | American Journal of human genetics 50 (6): 1308-17 | |||||
Interethnic genetic differentiation in Africa: HLA class I antigens in the Gambia | 1992 | American Journal of human genetics 50 (2): 411-21 | |||||
The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms | 1992 | American Journal of human genetics 50 (3): 544-50 | |||||
Recurrent 3-bp deletion at codon 255-256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa | 1992 | American Journal of human genetics 50 (4): 876-8 | |||||
Immunoquantification and enzyme kinetics of -L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients | 1992 | American Journal of human genetics 50 (4): 787-94 | |||||
Aphidicolin-inducible common fragile-site expression: results from a population survey of twins | 1992 | American Journal of human genetics 50 (1): 76-83 | |||||
"PRB"2-1 fusion gene: a product of unequal and homologous crossing-over between proline-rich protein (PRP) genes "PRB"1 and "PRB"2 | 1992 | American Journal of human genetics 50 (4): 842-51 | |||||
DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites | 1992 | American Journal of human genetics 50 (5): 1086-103 | |||||
DNA mutations associated with the human butyrylcholinesterase J-variant | 1992 | American Journal of human genetics 50 (5): 1104-14 | |||||
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis | 1992 | American Journal of human genetics 50 (3): 483-91 | |||||
Leber optic neuropathy [comments on N Howell and D McCullough in "Amer J hum Genet" 1990 (47:4) 629-34 and N Howell and others in "Amer J hum Genet" 1991 (48:5) 935-42; with reply by Howell] | 1992 | American Journal of human genetics 50 (2): 446-7 | |||||
Advantages of a two-step laboratory approach for cystic fibrosis carrier screening | 1992 | American Journal of human genetics 50 (2): 439-40 | |||||
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward -methylmannoside are due to nonallelic mutations | 1992 | American Journal of human genetics 50 (1): 137-44 | |||||
The economics of clinical genetics services. 4, Financial impact of outpatient genetic services on an academic institution | 1992 | American Journal of human genetics 50 (1): 84-91 | |||||
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2 | 1992 | American Journal of human genetics 50 (5): 981-7 | |||||
General population screening for cystic fibrosis is premature | 1992 | American Journal of human genetics 50 (2): 438-9 | |||||
Discrimination as a consequence of genetic testing | 1992 | American Journal of human genetics 50 (3): 476-82 | |||||
Early British discoveries in human genetics: contributions of R.A. Fisher and J.B.S. Haldane to the development of blood groups | 1992 | American Journal of human genetics 50 (4): 671-6 | |||||
Assignment of the urokinase-type plasminogen activator receptor gene (PLAUR) to chromosome 19q13.1-q13.2 | 1992 | American Journal of human genetics 50 (3): 492-7 | |||||
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance | 1992 | American Journal of human genetics 50 (3): 607-18 | |||||
A molecular defect in human protoporphyria | 1992 | American Journal of human genetics 50 (6): 1203-10 | |||||
Debates, divisions, and decisions: Recombinant DNA Advisory Committee (RAC) authorization of the first human gene transfer experiments | 1992 | American Journal of human genetics 50 (2): 245-60 | |||||
Cystic fibrosis in the Basque country: high frequency of mutation F508 in patients of Basque origin | 1992 | American Journal of human genetics 50 (2): 404-10 | |||||
Caucasian genes in American blacks: new data | 1992 | American Journal of human genetics 50 (1): 145-55 | |||||
A chromosome 14-specific human satellite III DNA subfamily that shows variable presence on different chromosomes 14 | 1992 | American Journal of human genetics 50 (4): 706-16 | |||||
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis | 1992 | American Journal of human genetics 50 (3): 584-9 | |||||
Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels | 1992 | American Journal of human genetics 50 (5): 1038-45 | |||||
Viability of skin biopsies stored at -70°C | 1992 | American Journal of human genetics 50 (4): 875 | |||||
Reply to Krawczak and Bockel [M Krawczak and B Bockel, see below] | 1992 | American Journal of human genetics 50 (3): 653-4 | |||||
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians | 1992 | American Journal of human genetics 50 (6): 1185-94 | |||||
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility | 1992 | American Journal of human genetics 50 (6): 1151-61 | |||||
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1992 | American Journal of human genetics 50 (1): 229-33 | |||||
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11 | 1992 | American Journal of human genetics 50 (5): 924-33 | |||||
Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x-y) polymorphism: evidence for little recombination in the 3' end of the human gene | 1992 | American Journal of human genetics 50 (1): 208-21 | |||||
Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations | 1992 | American Journal of human genetics 50 (4): 717-24 | |||||
Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV gene are associated with changes in the concentration of apo B- and apo A-I-containing lipoproteins in a normal population | 1992 | American Journal of human genetics 50 (5): 1115-28 | |||||
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis | 1992 | American Journal of human genetics 50 (2): 278-87 | |||||
Familial recurrence-pattern analysis of cleft lip with or without cleft palate | 1992 | American Journal of human genetics 50 (2): 270-7 | |||||
Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting | 1992 | American Journal of human genetics 50 (3): 528-35 | |||||
Reply to Tzourio et al. [C Tzourio and others, see below] | 1992 | American Journal of human genetics 50 (3): 646-8 | |||||
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium | 1992 | American Journal of human genetics 50 (5): 902-13 | |||||
Interaction of apolipoprotein E genotype and dietary cholesterol in determining plasma cholesterol levels [comments on DM Hallman and others in "Amer J hum Genet" 1991 (49:2) 338-49] | 1992 | American Journal of human genetics 50 (1): 236 | |||||
Origin heterogeneity of Hb Lepore-Boston gene in Italy | 1992 | American Journal of human genetics 50 (4): 781-6 | |||||
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples [in "Amer J hum Genet" 1991 (49:1) 175-83]: erratum | 1992 | American Journal of human genetics 50 (3): 659 | |||||
The 4% solution (approximately) | 1992 | American Journal of human genetics 50 (4): 874-5 | |||||
Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN1) | 1992 | American Journal of human genetics 50 (2): 399-403 | |||||
Nondisjunction versus nonconjunction [comments on SL Sherman and others in "Amer J hum Genet" 1991 (49:3) 608-20] | 1992 | American Journal of human genetics 50 (5): 1137 | |||||
Common sequence motifs at the rearrangement sites of a constitutional X-autosome translocation and associated deletion | 1992 | American Journal of human genetics 50 (4): 725-41 | |||||
Influence of MHC and MHC-linked genes on reproduction | 1992 | American Journal of human genetics 50 (1): 1-5 | |||||
The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3 | 1992 | American Journal of human genetics 50 (4): 826-33 |