Works matching IS 00099163 AND DT 1985 AND VI 28 AND IP 6

Results: 15

Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 550, doi. 10.1111/j.1399-0004.1985.tb00425.x

By:

Haspeslagh, M.;
Fryns, J. P.;
Mûelenaere, A. de;
Schautteet, L.;
Eeckhoutte, I. van;
Berghe, H. van den

Publication type:

Article

The Aase-Smith syndrome.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 521, doi. 10.1111/j.1399-0004.1985.tb00420.x

By:

Patton, M. A.;
Sharma, A.;
Winter, R. M.

Publication type:

Article

Morphology of cystic fibrosis at 17 weeks of gestation.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 561, doi. 10.1111/j.1399-0004.1985.tb00427.x

By:

Szeifert, G. T.;
Szabó, M.;
Papp, Z.

Publication type:

Article

Ectodermal manifestations in Menkes disease.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 532, doi. 10.1111/j.1399-0004.1985.tb00422.x

By:

Moore, Charleen M.;
Howell, R. Rodney

Publication type:

Article

Hirschsprung disease: a genetic study.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 503, doi. 10.1111/j.1399-0004.1985.tb00417.x

By:

Garver, Kenneth L.;
Law, John C.;
Garver, Bettylee

Publication type:

Article

The humble fibroblast - a curiosity or a cell model for human genetic research.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 565, doi. 10.1111/j.1399-0004.1985.tb00428.x

By:

Danes, B. Shannon

Publication type:

Article

Mosaic tetrasomy 12p.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 495, doi. 10.1111/j.1399-0004.1985.tb00416.x

By:

Gilgenkrantz, S.;
Droulle, P.;
Schweitzer, M.;
Foliguet, B.;
Chadefaux, B.;
Lombard, M.;
Chery, M.;
Prieur, M.

Publication type:

Article

Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22).

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 546, doi. 10.1111/j.1399-0004.1985.tb00424.x

By:

Fryns, J. P.;
Kleczkowska, A.;
Dereymaker, A. M.;
Hoefnagels, M.;
Heremans, G.;
Marien, J.;
Berghe, H. van den

Publication type:

Article

Ring chromosome 21 in a phenotypically normal but infertile man.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 541, doi. 10.1111/j.1399-0004.1985.tb00423.x

By:

Huret, J. L.;
Leonard, C.;
Kanoui, V.

Publication type:

Article

The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia Further evidence for autosomal recessive inheritance.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 516, doi. 10.1111/j.1399-0004.1985.tb00419.x

By:

Meinecke, P.;
Fryns, J. P.

Publication type:

Article

An unusual case of X-15 translocation: evidence for the presence of an 'activator' region on Xpter of Man.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 556, doi. 10.1111/j.1399-0004.1985.tb00426.x

By:

Crocker, M.;
Jonasson, J.;
Patel, C.

Publication type:

Article

Information about diploid-tetraploid mosaicism in a six-year-old male.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 567, doi. 10.1111/j.1399-0004.1985.tb00429.x

By:

Wittwer, B. Bernhard;
Wittwer, H. Bärbel

Publication type:

Article

Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and 'Cat eye' phenotypical features.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 509, doi. 10.1111/j.1399-0004.1985.tb00418.x

By:

Gabarrón, J.;
Glover, G.;
Jimenez, A.;
Lamata, E.

Publication type:

Article

Åland eye disease: no albino misrouting.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 526, doi. 10.1111/j.1399-0004.1985.tb00421.x

By:

Dorp, D. B. van;
Eriksson, A. W.;
Delleman, J. W.;
Vliet, A. G. M. van;
Collewijn, H.;
Balen, A. Th. M. van;
Forsius, H. R.

Publication type:

Article

Detection and interpretation of two different cell lines in triploid abortions.

Published in:

Clinical Genetics, 1985, v. 28, n. 6, p. 489, doi. 10.1111/j.1399-0004.1985.tb00415.x

By:

Uchida, Irene A.;
Freeman, Viola C. P.;
Chen, Ping-le

Publication type:

Article