Volume 34; Issue 1

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Clinical Genetics
Volume 34; Issue 1

Clinical Genetics

Volume 34; Issue 1

1

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization

Ann Harris, Shelley Lankester, Eric Haan, Judith Beres, Maj Hulten, Judit Szollar, Linda Soutter, Martin Bobrow

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 370 KB

english, 1988

2

Intrafamilial variability in fucosidosis

P. J. Willems, C. A. Garcia, M. C. H. De Smedt, R. Martin-Jimenez, J. K. Darby, D. A. Duenas, D. Granado-Villar, J. S. O'Brien

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 707 KB

english, 1988

3

Unstable translocation t(14;21) in a man, inherited as a t(13;14) in one of his daughters

J. P. Siffroi, F. Viguie, F. Romani

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 343 KB

english, 1988

4

No increased chromosome breakage in skin fibroblasts from patients with musculoskeletal sarcoma

Fredrik Mertens, Bertil Johansson

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 357 KB

english, 1988

5

Linkage studies of Best's macular dystrophy

Freda E. Yoder, Harold E. Cross, Gary A. Chase, Stuart L. Fine, Linda Freidhoff, Carol H. Machan, Wilma B. Bias

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 338 KB

english, 1988

6

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

A. Ballabio, G. Parenti, R. Carrozzo, G. Coppa, L. Felici, V. Migliori, M. Silengo, P. Franceschini, G. Andria

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 627 KB

english, 1988

7

6q1 monosomy: a distinctive syndrome

Catherine Turleau, Gérard Demay, Marie-Odille Cabanis, Gérard Lenoir, Jean de Grouchy

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 375 KB

english, 1988

8

Recombinational event between Norrie disease and DXS7 loci

Julielani T. Ngo, M. Anne Spence, Victoria Cortessis, Robert S. Sparkes, J. Bronwyn Bateman

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 315 KB

english, 1988

9

The phenotype of partial dup(7q) reconsidered: a report of five new cases

A. Forabosco, A. Baroncini, L. Dalpra, L. Chessa, A. Giannotti, F. Maccagnani, B. Dallapiccola

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 1.13 MB

english, 1988

10

Neonatal screening for amino acidaemias in Karnataka, South India

N. Appaji Rao, A. Radha Rama Devi, H. S. Savithri, S. Venkat Rao, A. H. Bittles

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 211 KB

english, 1988

11

Autosomal dominant antecubital pterygium: syndromic status substantiated

C. E. Wallis, M. Shun-Shin, P. H. Beighton

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 741 KB

english, 1988

12

An unbalanced autosomal translocation (7;9) associated with feminization

M. Crocker, S. B. Coghill, R. Cortinho

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 334 KB

english, 1988

13

Ring chromosome 5

D. B. Flannery, W. G. Rogers, J. Rogers Byrd

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 405 KB

english, 1988

14

Announcements

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 56 KB

english, 1988