Works matching IS 00099163 AND DT 1985 AND VI 27 AND IP 5

Results: 20

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 522, doi. 10.1111/j.1399-0004.1985.tb00244.x

By:

Wieringa, B.;
Hustinx, Th.;
Scheres, J.;
Renier, W.;
Haar, B.

Publication type:

Article

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43).

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 515, doi. 10.1111/j.1399-0004.1985.tb00242.x

By:

Beemer, F. A.;
Pater, J. M. Klep-de;
Sepers, G. J.;
Janssen, B.

Publication type:

Article

Marker chromosome in cat eye syndrome.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 526, doi. 10.1111/j.1399-0004.1985.tb00247.x

By:

Verma, Ram S.;
Babu, K. A.;
Rosenfeld, W.;
Jhaveri, R. C.

Publication type:

Article

Effect of folic acid treatment in the fragile X syndrome.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 463, doi. 10.1111/j.1399-0004.1985.tb00232.x

By:

Gustavson, Karl-Henrik;
Dahlbom, Kate;
Flood, Anders;
Holmgren, Gösta;
Blomquist, Hans K→son;
Sanner, Gunnar

Publication type:

Article

Autosomal dominant transmission of ankylosed teeth, abnormalities of the jaws, and clinodactyly.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 496, doi. 10.1111/j.1399-0004.1985.tb00238.x

By:

Pelias, M. Z.;
Kinnebrew, M. C.

Publication type:

Article

A folate sensitive heritable fragile site at 19p13.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 510, doi. 10.1111/j.1399-0004.1985.tb00241.x

By:

Tommerup, Niels;
Nielsen, Johannes;
Mikkelsen, Margareta

Publication type:

Article

Chromosome analysis in 100 cases of first trimester trophoblast sampling.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 451, doi. 10.1111/j.1399-0004.1985.tb00230.x

By:

Heim, Sverre;
Kristoffersson, Ulf;
Mandahl, Nils;
Mineur, Anita;
Mitelman, Felix;
Edvall, Helene;
Gustavii, Björn

Publication type:

Article

Low density lipoprotein receptor activity in cultured skin fibroblasts from octa- and nonagenarians.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 433, doi. 10.1111/j.1399-0004.1985.tb00228.x

By:

Leren, Trond P.;
Maartmann-Moe, Kjell;
Berg, Kåre

Publication type:

Article

Detection of the fragile X chromosome and other fragile sites.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 520, doi. 10.1111/j.1399-0004.1985.tb00243.x

By:

Webb, Graham C.

Publication type:

Article

Antenatal diagnosis of infantile Refsum's disease.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 524, doi. 10.1111/j.1399-0004.1985.tb00246.x

By:

Poll-The, B. T.;
Poulos, A.;
Sharp, P.;
Boue, J.;
Ogier, H.;
Odièvre, M.;
Saudubray, J. M.

Publication type:

Article

Gustatory lacrimation in association with the branchio-oto-renal syndrome.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 506, doi. 10.1111/j.1399-0004.1985.tb00240.x

By:

Preisch, James W.;
Bixler, David;
Ellis, Forrest D.

Publication type:

Article

X-linked Ehlers-Danlos syndrome type V; the next generation.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 472, doi. 10.1111/j.1399-0004.1985.tb00234.x

By:

Beighton, Peter;
Curtis, Diana

Publication type:

Article

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 443, doi. 10.1111/j.1399-0004.1985.tb00229.x

By:

Nilsson, Olle;
Grabowski, Gregory A.;
Ludman, Mark D.;
Desnick, Robert J.;
Svennerholm, Lars

Publication type:

Article

Consanguinity among the Kuwaiti population.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 483, doi. 10.1111/j.1399-0004.1985.tb00236.x

By:

Al-Awadi, S. A.;
Moussa, M. A.;
Naghuib, K. K.;
Farag, T. I.;
Teebi, A. S.;
El-Khalifa, M.;
El-Dossary, L.

Publication type:

Article

Unbalanced karyotype with normal phenotype in a family with translocation (8;13) (p21;q22).

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 487, doi. 10.1111/j.1399-0004.1985.tb00237.x

By:

Bröcker-Vriends, A. H. J. T.;
Kamp, J. J. P. van de;
Geraedts, J. P. M.;
Bos, S. E.;
Nijenhuis, Th. A.

Publication type:

Article

Increased frequency of the apolipoprotein E-4 isoform in male subjects with multifactorial hypercholesterolemia.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 458, doi. 10.1111/j.1399-0004.1985.tb00231.x

By:

Leren, Trond P.;
Bbøresen, Anne-Lise;
Berg, Kåre;
Hjermann, Ingvar;
Luren, Paul

Publication type:

Article

Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 501, doi. 10.1111/j.1399-0004.1985.tb00239.x

By:

Howard, P. J.;
Lewis, I. J.;
Harris, F.;
Walker, S.

Publication type:

Article

Fragile sites and chromosome breakpoints in constitutional rearrangements.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 523, doi. 10.1111/j.1399-0004.1985.tb00245.x

By:

Braekeleer, Marc De

Publication type:

Article

Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 468, doi. 10.1111/j.1399-0004.1985.tb00233.x

By:

Happle, R.;
Frosch, P. J.

Publication type:

Article

Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.

Published in:

Clinical Genetics, 1985, v. 27, n. 5, p. 479, doi. 10.1111/j.1399-0004.1985.tb00235.x

By:

Besançon, Anne-Marie;
Castelnau, Laetitia;
Nicolesco, Henriette;
Dumez, Yves;
Poenaru, Livia

Publication type:

Article