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| 1. |
Letter to the Editors |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 151-151
F. A. Beemer,
C. Heiden,
J. O. Van Hemel,
M. Jansen,
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02229.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 2. |
The Sixth Annual New York March of Dimes Symposium on Genetics for the Practicing Physician |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 152-152
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PDF (29KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02230.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 3. |
Folic acid metabolism in patient with fragile X |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 153-155
Karen Brøndum Nielsen,
Niels Tommerup,
Brigitte Fariis,
Erik Hippe,
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PDF (180KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02231.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 4. |
Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 156-158
J. P. Fryns,
A. Kleczkowska,
H. Verresen,
H. van den Berghe,
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02232.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 5. |
Gentics and linkage relationships of the C3 polymorphism: discovery of C3‐Se linkage and assignment of LES‐C3‐DM‐Se‐PEPD‐Lu synteny to chromosome 19 |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 159-170
H. Eiberg,
J. Mhore,
Staub Nielsen,
N. Simonsen,
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摘要:
The C3 complement system was examined in our Danish material of normal families, which had earlier been examined for 59 marker systems, and in a myotonic dystrophy family material. A total of 8 alleles were recognized, with allele frequencies as follows: C3*S = 0.7902, C3*F = 0.2018, C3*S rare (3 lumped together) = 0.0036, C3* F rare (2 lumped together) = 0.0024; a silent allele was recognized in three families and its frequency to C3*QO = 0.002. The distribution of unrelated inviduals did not deviate significantly from the Hardy‐ Weinberg expectation, it was not siginicantly different between the sexes, and the for none of the mating types was there any significant deviation from the expected ratios of children.As to linkage relationships of C3 with market systems and with myotonic dystrophy, there was evidence (most of it first presented at the 6th International Congress of Human Genetics, Jerusalem 1981) for synteny with ABH secretion (Se): C3‐Se (males)ẑ= 4.35, θC = 0.12 and with Lewis secretion (LES): C3‐LES (malesẑ= 3.63, θC = 0.04). There were indicative or suggestive lod scores for Se‐PEPD (males&femalesẑ= 2.41, θC = 0.00), C3‐Lu (ẑ= 1.88, θC = 0.15), C3‐DM (ẑ= 1.69, θC = 0.06) and PEPD‐C3 (maleẑ= 0.95, θC = 0.17). The most likely sequence of these 6 systems would appear to be LES‐C3‐DM‐(Se‐PEPD)‐Lu and the sy
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02233.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 6. |
An HLA‐All Assoiciation with the hemochromatosis allele? |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 171-176
L. Le Mignon,
M. Simon,
R. Fauchet,
G. Edan,
M. Le Reun,
P. Brissot,
B. Genetet,
M. Bourel,
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摘要:
Two hundred and seventy‐four patients with hemochromatosis and 1005 controls were HLA typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken up by A3, a significant increase in All was found. This increase could not be explained by cross reaction between A3 and All. All showed a phenotype association and a haplotype link with Bw35. The genetic significance of this increased All frequency is discusse
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02234.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 7. |
The half chromatid mutation model and bidrectional mutation in incontinentia pigmenti |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 177-179
Frederick Hecht,
Barbara K. Hectt,
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02235.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 8. |
Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 180-183
J. P. Fryns,
P. Petit,
A. Klechzkowska,
H. van den Berghe,
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摘要:
An isodicentic X‐chromosome (idic(X)(pterq23::q23pter)) was found in a phenotypically normal 30‐year‐old female with symptoms of premature menopause.A study of DNA replication reveled that in a proportion of cells there was aasymmetric pattern of replication. The region with the inactive centromere had a tendency to replicate later that the portion with the functioning cent
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02236.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 9. |
Is there a predisposition for meiotic non‐disjunciton that may be detected by mitoitc hyperploidy? |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 184-190
C. Staessen,
A. M. Maes,
M. Kirsch‐Volders,
C. Susanne,
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摘要:
The aneuploidy frequencies have been stuided in vitro in lymphocytes from couples with recurent abortions, from parents of a trisomic child and from control couples with at least two normal children; c‐heterochromatin variants have been analysed on the same samples by length measurements.A significant increase of hyeperploid cells has been observed in the lymphocytes from parents of a trisomic and couples with recurrent abortions as well. However, no consistent correlation has been found so far between c‐heterochromatin varients and an increase of aneuplo
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02237.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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| 10. |
Dominant ano‐rectal malfromatin, nephritis and nerve‐deafness: a possible new entity? |
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Clinical Genetics,
Volume 24,
Issue 3,
1983,
Page 191-193
J. Lowe,
G. Kohn,
O. Cohen,
M. Mogilner,
M. Shiller,
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摘要:
A family is presented in which ano‐rectal malformation and feautures common to Alport Syndrome appear to be present in three generations. The possiblity of a new syndrome bassed on a single gene defect is discusse
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02238.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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