Volume 77; Issue 4

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Human Genetics
Volume 77; Issue 4

Human Genetics

Volume 77; Issue 4

1

A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects

Eeva Stene, Jon Stene, Sabine Stengel-Rutkowski

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 430 KB

english, 1987

2

Issues in analysis of data on paternal age and 47,+21: implications for genetic counseling for Down syndrome

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 452 KB

english, 1987

3

An analysis of paternal age and 47,+21 in 35,000 new prenatal cytogenetic diagnosis data from the New York State Chromosome Registry: no significant effect

Philip K. Cross, Ernest B. Hook

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 569 KB

english, 1987

4

Appendix: A general regression model for analysis of independent maternal and paternal age effects for 47,+21 and other disorders that may arise from mutant gametes from either parent

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 291 KB

english, 1987

5

On methodological issues regarding 47,+21 paternal age data

Eeva Stene, Jon Stene, Sabine Stengel-Rutkowski

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 119 KB

english, 1987

6

Partial structure of the human α2(IV) collagen chain and chromosomal localization of the gene (COL4A2)

Paul D. Killen, Clair A. Francomano, Yoshihiko Yamada, William S. Modi, Stephen J. O'Brien

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 1023 KB

english, 1987

7

Human cholinesterase genes localized by hybridization to chromosomes 3 and 16

Hermona Soreq, Ronit Zamir, Dina Zevin-Sonkin, Haim Zakut

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 536 KB

english, 1987

8

Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family

M. C. Lecomte, D. Dhermy, M. Garbarz, C. Feo, H. Gautero, O. Bournier, C. Picat, I. Chaveroche, C. Galand, P. Boivin

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 899 KB

english, 1987

9

Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease

Hans Scheffer, Ido P. Kema, Ikuko Kondo, Anneke Y. Veen, Tatsuro Ikeuchi, Charles H. C. M. Buys

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 626 KB

english, 1987

10

Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome

A. Ballabio, G. Sebastio, R. Carrozzo, G. Parenti, A. Piccirillo, M. G. Persico, G. Andria

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 626 KB

english, 1987

11

Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies

K. Harzer, H. -D. Hager, G. Tariverdian

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 298 KB

english, 1987

12

47,XXX females, sex chromosomes, and tooth crown structure

Lassi Alvesalo, Erkki Tammisalo, Eeva Therman

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 668 KB

english, 1987

13

Loss of heterozygosity and the origin of meningioma

E. Meese, N. Blin, K. D. Zang

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 341 KB

english, 1987

14

Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II

Ernst Natt, Eva-Maria Westphal, Su Ellen Toth-Fejel, R. Ellen Magenis, Neil R. M. Buist, Ruth Rettenmeier, Gerd Scherer

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 1.19 MB

english, 1987

15

The study of a French family with two duplicated C4A haplotypes

Carolyn M. Giles, Beatrice Uring-Lambert, Wolfgang Boksch, Margot Braun, Joelle Goetz, Rainer Neumann, Gottfried Mauff, Georges Hauptmann

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 1.29 MB

english, 1987

16

Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization

J. E. Landegent, N. Jansen in de Wal, R. W. Dirks, M. Ploeg

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 1.02 MB

english, 1987

17

Analysis of protein patterns from different organs and cell fractions of trisomy 19 mice

Evelyn Zeindl-Eberhart, Gisela Grohé, Joachim Klose

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 1.69 MB

english, 1987

18

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

F. Marlhens, J. Chelly, J. C. Kaplan, D. Lefrancois, J. P. Harpey, B. Dutrillaux

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 819 KB

english, 1987

19

Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies

R. Gil, C. López-Ginés, M. Gregori-Romero, M. D. Sánchez, A. Pellin

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 45 KB

english, 1987

20

The rare variant ADA 6-1. First detection in a Japanese population

N. Komatsu, A. Kido, M. Oya

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 199 KB

english, 1987

21

Announcement

Journal:

Année:

1987

Fichier:

PDF, 16 KB

1987