Works matching IS 00099163 AND DT 1997 AND VI 51 AND IP 4

Results: 18

Detection of an EcoRI restriction fragment length polymorphism in the gene encoding the human TBP associated factor II 30 (TAF.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 288, doi. 10.1111/j.1399-0004.1997.tb02474.x

By:

Chéhensse, Valérie;
Boulvin, Caroline;
Luce, Sandrine;
Tora, Lazlo;
Junien, Claudine;
Henry, Isabelle

Publication type:

Article

Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 219, doi. 10.1111/j.1399-0004.1997.tb02458.x

By:

Susie, Slavovic;
McGrory, Joel;
Ahier, Janet;
Cole, William G.

Publication type:

Article

Reciprocal translocation 4; 11 with both adjacent-1 segregants viable within a family.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 250, doi. 10.1111/j.1399-0004.1997.tb02464.x

By:

Rogers, Jill Cellars;
Harris, David J.;
Pasztor, Linda M.

Publication type:

Article

Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 225, doi. 10.1111/j.1399-0004.1997.tb02459.x

By:

Alonso, Ma Elisa;
Yescas, Petra;
Cisneros, Bulmaro;
Martínez, Claudia;
Silva, Guadalupe;
Ochoa, Adriana;
Montañez, Cecilia

Publication type:

Article

Terminal 2q deletion-a recognizable syndrome.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 290, doi. 10.1111/j.1399-0004.1997.tb02475.x

By:

Wenger, Sharon L.;
Boone, Leslie Y.;
Surti, Urvashi;
Steele, Mark W.

Publication type:

Article

The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 236, doi. 10.1111/j.1399-0004.1997.tb02461.x

By:

Naggert, Jürgen K.;
III, Adrian Recinos;
Lamerdin, Jane E.;
Krauss, Ronald M.;
Nishina, Patsy M.

Publication type:

Article

Case Report: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 260, doi. 10.1111/j.1399-0004.1997.tb02466.x

By:

Nagarsheth, Nimesh P.;
Mootabar, Hamid

Publication type:

Article

Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 231, doi. 10.1111/j.1399-0004.1997.tb02460.x

By:

Silva, L C. S.;
Pires, R. F.;
Coelho, J. C.;
Jardim, L B.;
Giugliani, R.

Publication type:

Article

Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 271, doi. 10.1111/j.1399-0004.1997.tb02469.x

By:

Fryns, Jean-Pierre;
Stinckens, Christel;
Feenstra, Louw

Publication type:

Article

Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 → q35 and ring r (4) (pterq35.2-qter).

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 264, doi. 10.1111/j.1399-0004.1997.tb02467.x

By:

Calabrese, G.;
Giannotti, A.;
Mingarelli, R.;
Gilio, M. C. Di;
Piemontese, M. R.;
Palka, G.

Publication type:

Article

Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 275, doi. 10.1111/j.1399-0004.1997.tb02470.x

By:

Mielke, G.;
Enders, H.;
Goelz, R.;
Klein-Vogler, U.;
Ulmer, R.;
Trautmann, U.

Publication type:

Article

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 246, doi. 10.1111/j.1399-0004.1997.tb02463.x

By:

Devriendt, K.;
Hoestenberghe, R. Van;
Hole, C. Van;
Devlieger, H.;
Gewillig, M.;
Moerman, Ph.;
Berghe, H.;
Fryns, J. P.

Publication type:

Article

A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 286, doi. 10.1111/j.1399-0004.1997.tb02473.x

By:

Lombardi, P.;
Defesche, J.C.;
Kamerling, S.W.A.;
Kastelein, J.J.P.;
Havekes, L.M.

Publication type:

Article

Case Report: Corroboration of the lower extremity counterpart of the Poland sequence.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 257, doi. 10.1111/j.1399-0004.1997.tb02465.x

By:

Corona-Rivera, J. Román;
Corona-Rivera, Alfredo;
Totsuka-Sutto, Sylvia E.;
Corona-Rivera, Enrique

Publication type:

Article

Ohdo syndrome: report on a Brazilian girl with additional findings.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 268, doi. 10.1111/j.1399-0004.1997.tb02468.x

By:

Lopes, Vera Lúcia Gil da Silva;
Guion-Almeida, Maria Leine

Publication type:

Article

The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 241, doi. 10.1111/j.1399-0004.1997.tb02462.x

By:

Ramsbottom, Dorothy;
O'Neill, Anne;
Sexton, Donna M.;
Gafoor, Rafael A.;
Bouchier-Hayes, David;
Croke, David T.

Publication type:

Article

Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 281, doi. 10.1111/j.1399-0004.1997.tb02472.x

By:

Johannesson, T.;
Ehlers, S.;
Wahlström, J.

Publication type:

Article

Marinesco-Sjögren syndrome associated with acute mveloblastic leukemia.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 278, doi. 10.1111/j.1399-0004.1997.tb02471.x

By:

Fukuda, Seiji;
Yamada, Yukiji;
Nishimura, Masaaki;
Isogai, Koji;
Terada, Tomonori;
Iwata, Masako;
Shimozawa, Nobuyuki;
Suzuki, Yasuyuki;
Kondo, Naomi

Publication type:

Article