Works matching IS 00099163 AND DT 1990 AND VI 37 AND IP 2

Results: 14

Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A 'new' mental retardation syndrome.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 111, doi. 10.1111/j.1399-0004.1990.tb03487.x

By:

Fryns, J. P.;
Vogels, A.;
Berghe, H.

Publication type:

Article

Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 148, doi. 10.1111/j.1399-0004.1990.tb03492.x

By:

Schrander-Stumpel, C.;
Schrander, J.;
Fryns, J. P.;
Hamers, G.

Publication type:

Article

On the familial occurrence of congenital bilateral absence of vas deferens.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 159, doi. 10.1111/j.1399-0004.1990.tb03495.x

By:

Gilgenkrantz, Simone;
Guillemin, P.;
Kimmel, B.

Publication type:

Article

Inherited quantitative DNA variation in the LPA ('apolipoprotein (a)') gene.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 132, doi. 10.1111/j.1399-0004.1990.tb03490.x

By:

Kondo, Ikuko;
Berg, Kåre

Publication type:

Article

The phakomatoses as paracrine growth disorders (paracrinopathies).

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 97, doi. 10.1111/j.1399-0004.1990.tb03485.x

By:

Kousseff, Boris G.

Publication type:

Article

Complex familial translocation.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 158, doi. 10.1111/j.1399-0004.1990.tb03494.x

By:

Cruz-Coke, Ricardo

Publication type:

Article

Somatic and germ-line mosaicism in autosomal dominant antecubital pterygium.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 160, doi. 10.1111/j.1399-0004.1990.tb03496.x

By:

Hall, Judith

Publication type:

Article

A dicentric variant of chromosome 6: characterization by use of in situ hybridisation with the biotinylated probe p308.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 81, doi. 10.1111/j.1399-0004.1990.tb03483.x

By:

Callen, D. F.;
Eyre, H. J.;
Ringenbergs, M. L.

Publication type:

Article

5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 153, doi. 10.1111/j.1399-0004.1990.tb03493.x

By:

Zhang, Sjzhong;
Tang, Yongcai;
Dai, Fupjng;
Nœbuhr, Erik

Publication type:

Article

Defective oxidation of pristanic acid by fibroblasts from patients with disorders in propionic acid metabolism.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 106, doi. 10.1111/j.1399-0004.1990.tb03486.x

By:

Poulos, A.;
Johnson, D.;
Singh, H.

Publication type:

Article

Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 117, doi. 10.1111/j.1399-0004.1990.tb03488.x

By:

Goddard, Audrey D.;
Phillips, Robert A.;
Greger, Valerie;
Passarge, Eberhard;
Höpping, Wolfgang;
Zhu, Xiaoping;
Gallie, Brenda L.;
Horsthemke, Bernhard

Publication type:

Article

Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 141, doi. 10.1111/j.1399-0004.1990.tb03491.x

By:

Mäenpää, Johanna;
Lindahl, Elina;
Aula, Pertti;
Savontaus, Marja-Liisa

Publication type:

Article

Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 84, doi. 10.1111/j.1399-0004.1990.tb03484.x

By:

Ramsing, Mette;
Rehder, Helga;
Holzgreve, Wolfgang;
Meinecke, Peter;
Lenz, Widukind

Publication type:

Article

Deletion of chromosome 1p: a short review.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 127, doi. 10.1111/j.1399-0004.1990.tb03489.x

By:

Howard, P. J.;
Porteus, M.

Publication type:

Article