Works matching IS 00099163 AND DT 1998 AND VI 53 AND IP 1

Results: 19

Association between asthma and an intragenic variant of CC16 on chromosome 11q13.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 54, doi. 10.1111/j.1399-0004.1998.tb02582.x

By:

Mao, X-Q;
Shirakawa, T.;
Kawai, M.;
Enomoto, T.;
Sasaki, S.;
Dake, Y.;
Kitano, H.;
Hagihara, A.;
Hopkin, JM;
Morimoto, K.

Publication type:

Article

Genotype -phenotype correlation in myotonic dystrophy.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 20, doi. 10.1111/j.1399-0004.1998.tb02576.x

By:

Gharehbaghi-Schneli, Elisabeth B.;
Finsterei, Josef;
Korschineck, Irina;
Mamoli, Bruno;
Binder, Bernd R.

Publication type:

Article

The new Clinical Genetics: towards the millennium.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 1, doi. 10.1034/j.1399-0004.1998.531530101.x

By:

Hayden, Michael R.

Publication type:

Article

A bone master gene, CBFAI, culpable in Cleidocranial dysplasia.

Published in:: Clinical Genetics, 1998, v. 53, n. 1, p. 9, doi. 10.1111/j.1399-0004.1998.tb02572.x
Publication type:: Article

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 44, doi. 10.1111/j.1399-0004.1998.tb02579.x

By:

Braekeleer, Marc De;
Man, Cécile;
Verlingue, Claudine;
Allard, Christian;
Leblanc, Jean-Pierre;
Simard, Fernand;
Aubin, Gervais;
Férec, Claude

Publication type:

Article

Severe cystic fibrosis associated with a AF508/R347H + D979A compound heterozygous genotype.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 50, doi. 10.1111/j.1399-0004.1998.tb02581.x

By:

Hojo, Satoko;
Fujita, Jiro;
Miyawaki, Hiroshi;
Obayashi, Yuka;
Takahara, Jiro;
Bartholomew, Dennis W.

Publication type:

Article

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 13, doi. 10.1111/j.1399-0004.1998.tb02575.x

By:

Watanabe, Hidetaka;
Tanaka, Fumiaki;
Matsumoto, Michiyo;
Doyu, Manabu;
Ando, Tetsuo;
Mitsuma, Terunori;
Sobue, Gen

Publication type:

Article

ACTH receptor mutation in a girl with familial glucocorticoid deficiency.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 57, doi. 10.1111/j.1399-0004.1998.tb02583.x

By:

Slavotinek, Anne M.;
Hurst, Jane A.;
Dunger, David;
Wilkie, Andrew ONI

Publication type:

Article

Jagged gene responsible in Alagille syndrome.

Published in:: Clinical Genetics, 1998, v. 53, n. 1, p. 9, doi. 10.1111/j.1399-0004.1998.tb02571.x
Publication type:: Article

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 63, doi. 10.1111/j.1399-0004.1998.tb02584.x

By:

Fokstuen, S.;
Arbenz, U.;
Artan, S.;
Dutly, F.;
Bauersfeld, U.;
Brecevic, L.;
Fasnacht, M.;
Röthlisberger, B.;
Schinzel, A.

Publication type:

Article

The 4q-syndrome: delineation of the minimal critical region to within band 4q31.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 70, doi. 10.1111/j.1399-0004.1998.tb02585.x

By:

Robertson, Stephen P.;
O'Day, Kelly;
Bankier, Agnes

Publication type:

Article

A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 34, doi. 10.1111/j.1399-0004.1998.tb02578.x

By:

Webb, T.;
Hardy, CA;
King, M.;
Watkiss, E.;
Mitchell, C.;
Cole, T.

Publication type:

Article

The Asn9 variant of lipoprotein lipase is associated with the - 93G promoter mutation and an increased risk of coronary artery disease.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 27, doi. 10.1111/j.1399-0004.1998.tb02577.x

By:

Kastelein, John JP;
Groenemeyer, Bjöm E.;
Hallman, D Michael;
Henderson, Howard;
Reymer, PWA;
Gagné, S Eric;
Jansen, Hans;
Seidell, Jaap C.;
Kromhouf, Daan;
Jukema, J Wouter;
Bruschke, Albert VG;
Boerwinkle, Eric;
Hayden, Michael R.;
Group, The Regress Study

Publication type:

Article

VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2).

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 74, doi. 10.1111/j.1399-0004.1998.tb02586.x

By:

Giltay, Jacques C.;
Bokma, Jan A.;
France, Henny;
Beemer, Frits A.

Publication type:

Article

HotSpots - A new feature in Clinical Genetics.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 8, doi. 10.1111/j.1399-0004.1998.tb02570.x

By:

Goldberg, Y. Paul

Publication type:

Article

Killed by the clock.

Published in:: Clinical Genetics, 1998, v. 53, n. 1, p. 11, doi. 10.1111/j.1399-0004.1998.tb02573.x
Publication type:: Article

The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 47, doi. 10.1034/j.1399-0004.1998.531530109.x

By:

Brock, David JH;
Gilfillan, Annette;
Holloway, Susan

Publication type:

Article

Lumping and splitting: molecular biology in the genetics clinic.

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 3, doi. 10.1111/j.1399-0004.1998.tb02569.x

By:

Biesecker, Leslie G.

Publication type:

Article

A presynaptic Parkinson gene: α-synuclein.

Published in:: Clinical Genetics, 1998, v. 53, n. 1, p. 11, doi. 10.1111/j.1399-0004.1998.tb02574.x
Publication type:: Article