Works matching IS 00099163 AND DT 1995 AND VI 48 AND IP 2

Results: 12

The Pvull restriction site in the second intron of the human steroid 21-hydroxylase gene CYP21 is polymorphic.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 109, doi. 10.1111/j.1399-0004.1995.tb04066.x

By:

Koppens, Paul F. J.;
Hoogenboezem, Theo;
Degenhart, Herman J.

Publication type:

Article

Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 72, doi. 10.1111/j.1399-0004.1995.tb04058.x

By:

Preis, Sabine;
Majewski, F.

Publication type:

Article

Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 66, doi. 10.1111/j.1399-0004.1995.tb04057.x

By:

Sutphen, Rebecca;
Galan-Gomez, Enrique;
Cortada, Xavier;
Newkirk, Patricia N.;
Kousseff, Boris G.

Publication type:

Article

Congenital heart disease in the 48,XXYY syndrome.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 100, doi. 10.1111/j.1399-0004.1995.tb04064.x

By:

Meschede, Dieter;
Nekarda, Torsten;
Kececioglu, Deniz;
Löser, Hermann;
Vogt, Johannes;
Miny, Peter;
Horst, Jürgen

Publication type:

Article

The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 111, doi. 10.1111/j.1399-0004.1995.tb04067.x

By:

Fryns, J.P.

Publication type:

Article

Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 90, doi. 10.1111/j.1399-0004.1995.tb04062.x

By:

Schuster, H.;
Manke, C.;
Fischer, J.;
Keller, C.;
Wolfram, G.;
Zöllnery, N.

Publication type:

Article

Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 80, doi. 10.1111/j.1399-0004.1995.tb04060.x

By:

Renwick, P. J.;
Birley, A. J.;
McKeown, C. M. E.;
Hultén, M.

Publication type:

Article

Opitz BBBG syndrome: new family with late-onset, serious complication.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 76, doi. 10.1111/j.1399-0004.1995.tb04059.x

By:

Schrander, Jaap;
Schrander-Stumpel, Connie;
Berg, Jelle;
Frias, Jaime L.

Publication type:

Article

Clinical and molecular analysis of a Japanese boy with Morquio B disease.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 103, doi. 10.1111/j.1399-0004.1995.tb04065.x

By:

Ishii, Nozomi;
Oohira, Takahiko;
Oshima, Akihiro;
Sakuraba, Hitoshi;
Endo, Fumio;
Matsuda, Ichiro;
Sukegawa, Kazuko;
Orii, Tadao;
Suzuki, Yoshiyuki

Publication type:

Article

Population frequency of apolipoprotein E5 (Glu3→Lys) and E7 (Glu244→Lys, Glu245→Lys) variants in western Japana.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 93, doi. 10.1111/j.1399-0004.1995.tb04063.x

By:

Matsunaga, Akira;
Sasaki, Jun;
Moriyama, Kengo;
Arakawa, Fumiko;
Takada, Yoichi;
Nishi, Kayo;
Hidaka, Kazuko;
Arakawa, Kikuo

Publication type:

Article

Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 57, doi. 10.1111/j.1399-0004.1995.tb04056.x

By:

Giraldo, A.;
Pino, W.;
García-Ramírez, L. F.;
Pineda, M.;
Iglesias, A.

Publication type:

Article

Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.

Published in:

Clinical Genetics, 1995, v. 48, n. 2, p. 85, doi. 10.1111/j.1399-0004.1995.tb04061.x

By:

Ahlbom, Bodil Edman;
Dahl, Niklas;
Zetterqvist, Per;
Annerén, Goran

Publication type:

Article