Works matching IS 00099163 AND DT 2002 AND VI 62 AND IP 5

Results: 15

Diploid/triploid mosaicism in dysmorphic patients.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 376, doi. 10.1034/j.1399-0004.2002.620504.x

By:

van de Laar, I;
Rabelink, G;
Hochstenbach, R;
Tuerlings, J;
Hoogeboom, J;
Giltay, J

Publication type:

Article

An unstable dicentric Robertsonian translocation in a markedly discordant twin.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 383, doi. 10.1034/j.1399-0004.2002.620505.x

By:

Lebo, RV;
Wyandt, HE;
Warburton, PE;
Li, S;
Milunsky, JM

Publication type:

Article

The changing survival profile of people with Down's syndrome: implications for genetic counselling.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 390, doi. 10.1034/j.1399-0004.2002.620506.x

By:

Glasson, EJ;
Sullivan, SG;
Hussain, R;
Petterson, BA;
Montgomery, PD;
Bittles, AH

Publication type:

Article

Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 394, doi. 10.1034/j.1399-0004.2002.620507.x

By:

González-Herrera, L;
García-Escalante, G;
Castillo-Zapata, I;
Canto-Herrera, J;
Ceballos-Quintal, J;
Pinto-Escalante, D;
Díaz-Rubio, F;
Del Angel, RM;
Orozco-Orozco, L

Publication type:

Article

Pathogenesis of hereditary tumors: beyond the “two-hit” hypothesis.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 345, doi. 10.1034/j.1399-0004.2002.620501.x

By:

Tucker, T;
Friedman, JM

Publication type:

Article

Genetic heterogeneity in Malattia Leventinese.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 399, doi. 10.1034/j.1399-0004.2002.620508.x

By:

Toto, L;
Parodi, MB;
Baralle, F;
Casari, G;
Ravalico, G;
Romano, M

Publication type:

Article

Diabetic flies? Using Drosophila melanogaster to understand the causes of monogenic and genetically complex diseases.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 358, doi. 10.1034/j.1399-0004.2002.620502.x

By:

Lasko, P

Publication type:

Article

SCA8 in the Spanish population including one homozygous patient.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 404, doi. 10.1034/j.1399-0004.2002.620509.x

By:

Tazón, B;
Badenas, C;
Jiménez, L;
Muñoz, E;
Milà, M

Publication type:

Article

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 410, doi. 10.1034/j.1399-0004.2002.620510.x

By:

Debeer, P;
Mols, R;
Huysmans, C;
Devriendt, K;
Van de Ven, WJM;
Fryns, J-P

Publication type:

Article

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 415, doi. 10.1034/j.1399-0004.2002.620511.x

By:

Vermeesch, JR;
Baten, E;
Fryns, J-P;
Devriendt, K

Publication type:

Article

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 418, doi. 10.1034/j.1399-0004.2002.620512.x

By:

Fraser, J;
Wraith, JE;
Delatycki, MB

Publication type:

Article

Errata.

Published in:: 2002
Publication type:: Correction Notice

Modeling classic female Rett Syndrome in male mice.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 368, doi. 10.1034/j.1399-0004.2002.620503_2.x

By:

Warby, S

Publication type:

Article

Enteroviruses prefer the dystrophin-deficient heart.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 368, doi. 10.1034/j.1399-0004.2002.620503_3.x

By:

Chopra, V

Publication type:

Article

HIP1 as a marker of aggressive prostate cancer.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 368, doi. 10.1034/j.1399-0004.2002.620503_4.x

By:

Chan, EYW

Publication type:

Article