Works matching IS 00099163 AND DT 1992 AND VI 41 AND IP 5

Results: 13

Polymorphisms at the GLUT2 (β-cell/liver) glucose transporter gene and non-insulin-dependent diabetes mellitus (NIDDM): analysis in affected pedigree members.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 229, doi. 10.1111/j.1399-0004.1992.tb03671.x

By:

Baroni, Marco G.;
Alcolado, Juan C.;
Pozzilli, Paolo;
Cavallo, Maria G.;
Li, Shu-Ri;
Galton, David J.

Publication type:

Article

Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive α- N-acetylglucosaminidase-producing allele.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 243, doi. 10.1111/j.1399-0004.1992.tb03674.x

By:

Pande, Helens;
Chester, Alan;
Lia, Halldis;
Tharsby, Erik;
Stormorken, Helge

Publication type:

Article

Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 225, doi. 10.1111/j.1399-0004.1992.tb03670.x

By:

Maguld, Nagwa A.;
Hablblan, Razwan

Publication type:

Article

G

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 235, doi. 10.1111/j.1399-0004.1992.tb03672.x

By:

Oshima, Akihiro;
Yoshida, Kunihlro;
Ishlzaki, Asayo;
Sbimmoto, Michie;
Fukuhara, Yuklko;
Sakuraba, Hltoshi;
Suzuki, Yoshiynkl

Publication type:

Article

Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 239, doi. 10.1111/j.1399-0004.1992.tb03673.x

By:

Brandenburg, Helen;
Gho, Coon G.;
Jahoda, Milena G. J.;
Stijnen, Theo;
Bakker, Hans;
WIadimlroff, Jury W.

Publication type:

Article

Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 266, doi. 10.1111/j.1399-0004.1992.tb03679.x

By:

Chernos, Judy E.;
Fowlow, S. Boatrice;
Cox, David M.

Publication type:

Article

Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 270, doi. 10.1111/j.1399-0004.1992.tb03680.x

By:

Fagerlund, T.;
Islander, G.;
Ranklov, E.;
Harbltz, I.;
Hange, J. G.;
Mokleby, E.;
Barg, K.

Publication type:

Article

Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 252, doi. 10.1111/j.1399-0004.1992.tb03676.x

By:

Lau, Y. L.;
Srlvastava, G.;
Wong, V.;
Liu, Y. T.;
He, F. C. S.;
Yeung, C. Y.

Publication type:

Article

Interstitial deletion of 17pl 1.2 with brain abnormalities.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 278, doi. 10.1111/j.1399-0004.1992.tb03682.x

By:

Masuno, Mitsuo;
Asano, Jun-ichi;
Arai, Miwa;
Kuwahara, Takashi;
Orii, Tadao

Publication type:

Article

Lethal congenital erythroderma: a newly recognised genetic disorder.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 273, doi. 10.1111/j.1399-0004.1992.tb03681.x

By:

Shield, J. P. H.;
Jndge, M. R.;
Reardon, W.;
Baraitsar, M.;
Nohria, V.;
Malons, M.;
Harper, J. I.

Publication type:

Article

An additional patient with the 3C syndrome.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 263, doi. 10.1111/j.1399-0004.1992.tb03678.x

By:

Gurrieri, F.;
Narl, G.

Publication type:

Article

Dominantly inherited microcephaly, short stature and normal intelligence.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 248, doi. 10.1111/j.1399-0004.1992.tb03675.x

By:

Hannekam, Raoul C. M.;
Rhijn, Aat;
Hannekam, F. A. M.

Publication type:

Article

Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q.

Published in:

Clinical Genetics, 1992, v. 41, n. 5, p. 259, doi. 10.1111/j.1399-0004.1992.tb03677.x

By:

Genuardi, M.;
Flamia, R.;
Palka, G.;
Parruti, G.;
Nsri, G.

Publication type:

Article