Works matching IS 00099163 AND DT 1977 AND VI 11 AND IP 2

Results: 24

Familial occurrence of histiocytosis.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 163, doi. 10.1111/j.1399-0004.1977.tb01295.x

By:

Frisell, E.;
Björkstén, B.;
Holmgren, G.;
ÅNgström, T.

Publication type:

Article

Down syndrome due to partial trisomy 21q.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 119, doi. 10.1111/j.1399-0004.1977.tb01288.x

By:

Cervenka, Jaroslav;
Gorlin, Robert J.;
Djavadi, Gholman Reza

Publication type:

Article

The 9p- deletion syndrome A patient with a 45,XX,-9,-15, + t(9/15) constitution due to maternal 3:l meiotic disjunction.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 219, doi. 10.1111/j.1399-0004.1977.tb01303.x

By:

Bergamo, F.;
Crosato, F.;
Francesconi, D.;
Pasquali, F.;
Zuffardi, Orsetta

Publication type:

Article

Two XX males in one family and additional observations bearing on the etiology of XX males.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 91, doi. 10.1111/j.1399-0004.1977.tb01285.x

By:

Chapelle, Albert;
Schröder, Jim;
Murros, Juhani;
Tallqvist, Gustav

Publication type:

Article

The distribution of ancestral secondary cases in Parkinson's disease.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 189, doi. 10.1111/j.1399-0004.1977.tb01298.x

By:

Young, William I.;
Martin, William E.;
Anderson, V. Elving

Publication type:

Article

Congenital dislocation of the hip joint in Northern Sweden: Neonatal diagnosis and need for orthopaedic treatment.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 151, doi. 10.1111/j.1399-0004.1977.tb01293.x

By:

Beckman, L.;
Lemperg, R.;
Nordström, M.

Publication type:

Article

Dermatoglyphics in Cri du Chat syndrome.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 214, doi. 10.1111/j.1399-0004.1977.tb01302.x

By:

Shiono, Hiroshi;
Kadowaki, Jun-Ichi;
Kazama, Hisashi

Publication type:

Article

46, X,X-X terminal rearrangement / 45, X mosaicism in a child with short stature.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 122, doi. 10.1111/j.1399-0004.1977.tb01289.x

By:

Becroft, D. M. O.;
Costello, J. M.;
Shaw, R. L.

Publication type:

Article

A case report of a presumptive +i(18p) associated with serum IgA deficiency.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 184, doi. 10.1111/j.1399-0004.1977.tb01297.x

By:

Ogata, Kohei;
Iinuma, Kazuso;
Kamimura, Kikuro;
Morinaga, Ryoko;
Kato, Junko

Publication type:

Article

Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 207, doi. 10.1111/j.1399-0004.1977.tb01301.x

By:

Pfeiffer, Rudolf A.;
Kessel, Erika K.;
Soer, Karl-Heinz

Publication type:

Article

Heterozygote detection in phenylketonuria.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 137, doi. 10.1111/j.1399-0004.1977.tb01291.x

By:

Güttler, Flemming;
Hansen, Gert

Publication type:

Article

Heritability of 'sinking' pre-beta lipoprotein level: a twin study.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 224, doi. 10.1111/j.1399-0004.1977.tb01304.x

By:

Hewitt, David;
Milner, Jean;
Breckenridge, Carl;
Maguire, Graham

Publication type:

Article

Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 235, doi. 10.1111/j.1399-0004.1977.tb01306.x

By:

Fonatsch, Christa;
Flatz, Sibylle D.;
Freyman, R.

Publication type:

Article

Cystic fibrosis: Evidence for a genetic compound from a family study in cell culture.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 83, doi. 10.1111/j.1399-0004.1977.tb01284.x

By:

Danes, B. Shannon;
Hodson, Margaret E.;
Batten, J.

Publication type:

Article

Adrenoleukodystrophy (Siemerling-Creutzfeldt disease): Heterozygote with two clonal fibroblast populations.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 114, doi. 10.1111/j.1399-0004.1977.tb01287.x

By:

Ropers, H.-H.;
Zimmermann, J.;
Wienker, T.

Publication type:

Article

Morphology of the placenta in fetal I-cell disease.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 107, doi. 10.1111/j.1399-0004.1977.tb01286.x

By:

Rapola, Juhani;
Aula, Pertti

Publication type:

Article

Menkes Kinky Hair Syndrome: Is it a treatable disorder?

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 154, doi. 10.1111/j.1399-0004.1977.tb01294.x

By:

Garnica, A. D.;
Frias, J. L.;
Rennert, O. M.

Publication type:

Article

Ganglioside G.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 171, doi. 10.1111/j.1399-0004.1977.tb01296.x

By:

O'Brien, John S.;
Norden, Anthony G. W.;
Miller, Arnold L.;
Frost, Russel G.;
Kelly, Thaddeus E.

Publication type:

Article

A case of double trisomy in a liveborn infant: 48, XXY, + 13.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 147, doi. 10.1111/j.1399-0004.1977.tb01292.x

By:

Mailhes, John B.;
Moore, Charleen M.;
Gershanik, Juan J.

Publication type:

Article

46,XY, t(3;22)(p2;q13) resuIting in partial trisomy for the short arm of chromosome 3.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 201, doi. 10.1111/j.1399-0004.1977.tb01300.x

By:

Surana, Rawatmal B.;
Braudo, Michael E.;
Conen, Patrick E.;
Slade, Reginald H.

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 1977, v. 11, n. 2, p. 241, doi. 10.1111/j.1399-0004.1977.tb01307.x
Publication type:: Article

Two cases of Down syndrome with unusual de novo translocation.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 227, doi. 10.1111/j.1399-0004.1977.tb01305.x

By:

Verma, Ram S.;
Peakman, David C.;
Robinson, Arthur;
Lubs, Herbert A.

Publication type:

Article

Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 193, doi. 10.1111/j.1399-0004.1977.tb01299.x

By:

Willers, I.;
Held, K. R.;
Singh, S.;
Goedde, H. W.

Publication type:

Article

X-linked skeletal dysplasia with mental retardation.

Published in:

Clinical Genetics, 1977, v. 11, n. 2, p. 128, doi. 10.1111/j.1399-0004.1977.tb01290.x

By:

Christian, Joe C.;
DeMyer, W.;
Franken, E. A.;
Huff, J. S.;
Khairi, S.;
Reed, T.

Publication type:

Article