Works matching IS 00099163 AND DT 2000 AND VI 58 AND IP 1

Results: 18

Improvements in adenoviral vector technology: overcoming barriers for gene therapy.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 1, doi. 10.1034/j.1399-0004.2000.580101.x

By:

Parks, Robin J

Publication type:

Article

Altering the pathway to human gene therapy.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 12, doi. 10.1034/j.1399-0004.2000.580102.x

By:

Lewis, Me Suzanne

Publication type:

Article

Neuronal migration defects of the cerebral cortex: a destination debacle.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 16, doi. 10.1034/j.1399-0004.2000.580103.x

By:

Uher, Brian F;
Golden, Jeffrey A

Publication type:

Article

United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 41, doi. 10.1034/j.1399-0004.2000.580107.x

By:

Benjamin, Cm;
Lashwood, A

Publication type:

Article

Genetic landmarks through philately – Thomas Hunt Morgan (1866–1945).

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 25

By:

Chudley, Albert E;
Allen, GE;
Kohler, R

Publication type:

Article

Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 28, doi. 10.1034/j.1399-0004.2000.580105.x

By:

Killoran, Ce;
Abbott, M;
McKusick, Va;
Biesecker, Lg

Publication type:

Article

Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 69, doi. 10.1034/j.1399-0004.2000.580112.x

By:

Kato, Takeshi;
Tanaka, Fumiaki;
Yamamoto, Masahiko;
Yosida, Eiji;
Indo, Toshikatsu;
Watanabe, Hidetaka;
Yoshiwara, Tsuyoshi;
Doyu, Manabu;
Sobue, Gen

Publication type:

Article

Genetic variants of NRAMP1 and active tuberculosis in Japanese populations.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 74, doi. 10.1034/j.1399-0004.2000.580113.x

By:

Gao, Pei-Song;
Fujishima, Seitaro;
Mao, Xiao-Quan;
Remus, Natascha;
Kanda, Mizuo;
Enomoto, Tadao;
Dake, Yukihiro;
Bottini, Nuntio;
Tabuchi, Mitsuaki;
Hasegawa, Naoki;
Yamaguchi, Kazuhiro;
Tiemessen, Caroline;
Hopkin, Julian M;
Shirakawa, Taro;
Kishi, Fumio

Publication type:

Article

Novel deletional mutation of the MEN1 gene in a kindred with multiple endocrine neoplasia type 1.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 61, doi. 10.1034/j.1399-0004.2000.580110.x

By:

Kakizawa, Tomoko;
Sakurai, Akihiro;
Ikeo, Yasuto;
Ueno, Ichiro;
Hashizume, Kiyoshi

Publication type:

Article

Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 31, doi. 10.1034/j.1399-0004.2000.580106.x

By:

Comings, David E;
Gade-Andavolu, Radhika;
Gonzalez, Nancy;
Wu, Shijuan;
Muhleman, Donn;
Blake, Hezekiah;
Chiu, F;
Wang, E;
Farwell, K;
Darakjy, S;
Baker, R;
Dietz, George;
Saucier, Gerard;
MacMurray, James P

Publication type:

Article

Cortical dysgenesis in 2 patients with chromosome 22q11 deletion.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 64, doi. 10.1034/j.1399-0004.2000.580111.x

By:

Bird, Lynne M.;
Scambler, Peter

Publication type:

Article

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 77, doi. 10.1034/j.1399-0004.2000.580114.x

By:

Roberts, L;
Ramesar, R;
Greenberg, J

Publication type:

Article

Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 50, doi. 10.1034/j.1399-0004.2000.580108.x

By:

Squitieri, Ferdinando;
Berardelli, Alfredo;
Nargi, Eleonora;
Castellotti, Barbara;
Mariotti, Caterina;
Cannella, Milena;
Luisa Lavitrano, Maria;
de Grazia, Ugo;
Gellera, Cinzia;
Ruggieri, Stefano

Publication type:

Article

Predictive testing for familial adenomatous polyposis in a rural South Indian community.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 57, doi. 10.1034/j.1399-0004.2000.580109.x

By:

Savithri, Hs;
Venkatesha Murthy, Hs;
Baskaran, G;
Appaji Rao, N;
Kool, D;
Edkins, E;
Wang, W;
Bittles, Ah

Publication type:

Article

Increased urolithiasis in patients with alkaptonuria in childhood.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 79, doi. 10.1034/j.1399-0004.2000.580115.x

By:

Zibolen, Mirko;
Srsnova, Klara;
Srsen, Stefan

Publication type:

Article

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 81, doi. 10.1034/j.1399-0004.2000.580116.x

By:

Priolo, Manuela;
Lerone, Margherita;
Baffico, Maria;
Baldi, Maurizia;
Ravazzolo, Roberto;
Cama, Armando;
Capra, Valeria;
Silengo, Margherita

Publication type:

Article

Polydactyly in 22q11 syndrome: should it be taken into account?

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 84, doi. 10.1034/j.1399-0004.2000.580117.x

By:

Sánchez-Ramón, Silvia;
Bartolomé, Joaquín;
Sánchez-Luna, Manuel;
Franco, M Luisa;
Orera, María;
Fernández-Cruz, Eduardo;
Fernández-Pacheco, Ricardo P;
Gil, Juana

Publication type:

Article

Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.

Published in:

Clinical Genetics, 2000, v. 58, n. 1, p. 86, doi. 10.1034/j.1399-0004.2000.580118.x

By:

Santana da Silva, Luiz Carlos;
Carvalho, Tiago Santos;
da Silva, Fernanda B.;
Flores Pires, Ricardo;
Giugliani, Roberto;
Saraiva Pereira, Maria Luiza

Publication type:

Article