Works matching IS 00099163 AND DT 1988 AND VI 34 AND IP 1

Results: 14

Recombinational event between Norrie disease and DXS7 loci.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 43, doi. 10.1111/j.1399-0004.1988.tb02614.x

By:

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

Publication type:

Article

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

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 1, doi. 10.1111/j.1399-0004.1988.tb02607.x

By:

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

Publication type:

Article

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

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 20, doi. 10.1111/j.1399-0004.1988.tb02610.x

By:

Mertens, Fredrik;
Johansson, Bertil

Publication type:

Article

Neonatal screening for amino acidaemias in Karnataka, South India.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 60, doi. 10.1111/j.1399-0004.1988.tb02616.x

By:

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

Publication type:

Article

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.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 31, doi. 10.1111/j.1399-0004.1988.tb02612.x

By:

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

Publication type:

Article

Autosomal dominant antecubital pterygium: syndromic status substantiated.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 64, doi. 10.1111/j.1399-0004.1988.tb02617.x

By:

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

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1988, v. 34, n. 1, p. 79, doi. 10.1111/j.1399-0004.1988.tb02620.x
Publication type:: Article

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

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 70, doi. 10.1111/j.1399-0004.1988.tb02618.x

By:

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

Publication type:

Article

Ring chromosome 5.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 74, doi. 10.1111/j.1399-0004.1988.tb02619.x

By:

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

Publication type:

Article

6q1 monosomy: a distinctive syndrome.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 38, doi. 10.1111/j.1399-0004.1988.tb02613.x

By:

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

Publication type:

Article

Intrafamilial variability in fucosidosis.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 7, doi. 10.1111/j.1399-0004.1988.tb02608.x

By:

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

Publication type:

Article

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

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 15, doi. 10.1111/j.1399-0004.1988.tb02609.x

By:

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

Publication type:

Article

Linkage studies of Best's macular dystrophy.

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 26, doi. 10.1111/j.1399-0004.1988.tb02611.x

By:

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

Publication type:

Article

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

Published in:

Clinical Genetics, 1988, v. 34, n. 1, p. 48, doi. 10.1111/j.1399-0004.1988.tb02615.x

By:

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

Publication type:

Article