Works matching IS 00099163 AND DT 1998 AND VI 54 AND IP 3

Results: 22

Lack of association between ACE gene polymorphisms and 4 and asthma in British and Japanese populations.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 245, doi. 10.1111/j.1399-0004.1998.tb04294.x

By:

Sei, Yoshitatsu;
Gallagher, Kathy;
Flora, Mike;
Ling, Geoffrey SF;
Muldoon, Sheila;
Gao, P-S;
Mao, X-Q;
Kawai, M.;
Enomoto, T.;
Sasuki, S.;
Shaldon, SR;
Dake, Y.;
Kitano, H.;
Coull, P.;
Hagihara, A.;
Shirakawa, T.;
Hopkin, JM

Publication type:

Article

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 234, doi. 10.1111/j.1399-0004.1998.tb04291.x

By:

Zhong, Nan;
Wisniewski, E.;
Hartikainen, Jaana;
Ju, Weina;
Moroziewicz, Dorota N.;
McLendon, Lucille;
Brooks, Susan Sklower;
Brown, W Ted

Publication type:

Article

Generalised muscle hypertonia with mask-like face (Freeman-Sheldon syndrome) in a Tanzanian girl.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 252, doi. 10.1111/j.1399-0004.1998.tb04297.x

By:

Munji, Karim P.;
Mbise, Roger L.

Publication type:

Article

A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 219, doi. 10.1111/j.1399-0004.1998.tb04288.x

By:

Félix, Têmis Maria;
Leite, Júlio César Loguercio;
Maluf, Sharbel Weidner;
Coelho, Janice Carneiro

Publication type:

Article

A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 248, doi. 10.1111/j.1399-0004.1998.tb04295.x

By:

Hodes, ME

Publication type:

Article

Analysis of the transactivation domain of the androgen receptor in patients with male infertilitv.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 185, doi. 10.1111/j.1399-0004.1998.tb04282.x

By:

Wang, Q.;
Ghadessy, FJ;
Yong, EL

Publication type:

Article

Prevalence of homozygosity for the deleted alleles of glutathione S-transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groutx from Brazil: relevance to enviromental carcinogenesis?

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 210, doi. 10.1111/j.1399-0004.1998.tb04286.x

By:

Anuda, Valder R.;
Grignolli, Carlos E.;
Gonqalves, Marilda S.;
Soares, Manoel C.;
Menezes, Raimundo;
Saad, Sara TO;
Costa, Fernando F.

Publication type:

Article

Distribution of CAG repeats in normal. and Huntington's disease patients in Israel.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 250, doi. 10.1111/j.1399-0004.1998.tb04296.x

By:

Gazit, E.;
Lubomirov, L.;
Munakov, O.;
Topper, A.;
Frydman, M.;
Fried, K.;
Borochovitz, Z.;
Dangoor, N.;
Bogolubou, A.;
Carp, HJA

Publication type:

Article

Molecular basis of cystic fibrosis in the Republic of Macedonia.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 203, doi. 10.1111/j.1399-0004.1998.tb04285.x

By:

Petreska, L.;
Koceva, S.;
Plaseska, D.;
Chernick, M.;
Gordova-Muratovska, A.;
Fustic, S.;
Nestorov, R.;
Efremov, GD

Publication type:

Article

The Met54Leu polymorphism of paraoxonase (PON) enzyme gene is not a genetic risk factor for non-insulin-dependent diabetes mellitus in Finns.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 254, doi. 10.1111/j.1399-0004.1998.tb04298.x

By:

Malin, Riikka;
Huang, Xiao-Hong;
Wirta, Ole;
Rantalaiho, Vappu;
Pasternack, Amos;
Jokela, Hannu;
Koivula, Timo;
Lehtimäki, Terho

Publication type:

Article

Erratum.

Published in:: Clinical Genetics, 1998, v. 54, n. 3, p. 258, doi. 10.1111/j.1399-0004.1998.tb04300.x
Publication type:: Article

Three novel PROC gene lesions causing protein C deficiency.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 231, doi. 10.1111/j.1399-0004.1998.tb04290.x

By:

Hallam, PJ;
Mannucci, P.;
Tripodi, A.;
Bevan, D.;
Lawsen, B.;
Tengborn, L.;
Wacey, A.;
Coopel, DN

Publication type:

Article

Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 199, doi. 10.1111/j.1399-0004.1998.tb04284.x

By:

Kubota, Takeo;
Sakurai, Akihiro;
Arakawa, Kazuo;
Shirnazu, Mitsunobu;
Wakui, Keiko;
Furihata, Kenichi;
Fukushirna, Yoshimitsu

Publication type:

Article

Methods to detect the RYR1 G742A and A1565C mutations associated with malignant hyperthermia using a PCR-modified restriction sites technique.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 242, doi. 10.1111/j.1399-0004.1998.tb04293.x

By:

Sei, Yoshitatsu;
Gallagher, Kathy;
Flora, Mike;
Ling, Geoffrey SF;
Muldoon, Sheila

Publication type:

Article

Severe mental retardation - distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 224, doi. 10.1111/j.1399-0004.1998.tb04289.x

By:

Lukusa, T.;
Devriendt, K.;
Holvoet, M.;
Fryns, JP

Publication type:

Article

Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 239, doi. 10.1111/j.1399-0004.1998.tb04292.x

By:

Louhelainen, Jari;
Lindströrn, Erica;
Hemrninki, Kari;
Toftgård, Rune

Publication type:

Article

New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 169, doi. 10.1111/j.1399-0004.1998.tb04279.x

By:

Steinlein, Ortrud K.

Publication type:

Article

Natural born killer: tau protein and its role in dementia.

Published in:: Clinical Genetics, 1998, v. 54, n. 3, p. 176, doi. 10.1111/j.1399-0004.1998.tb04280.x
Publication type:: Article

Severe classical congenital muscular dystrophy and merosin expression.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 193, doi. 10.1111/j.1399-0004.1998.tb04283.x

By:

Vajsar, Jiri;
Chitayat, David;
Becker, Laurence E.;
Ho, Michael;
Ben-Zeev, Bruria;
Jay, Venita

Publication type:

Article

Acheiropodia: new cases from Brazil.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 256, doi. 10.1111/j.1399-0004.1998.tb04299.x

By:

Silveira, Elizabeth Lemos;
Freire-Maia, Ademar

Publication type:

Article

A family with three germline mutations in BRCAl and BRCA2.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 215, doi. 10.1111/j.1399-0004.1998.tb04287.x

By:

Liede, Alexander;
Metcalfe, Kelly;
Offit, Kenneth;
Brown, Karen;
Miller, Shari;
Narod, Steven A.;
Moslehi, Roxana

Publication type:

Article

Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease.

Published in:

Clinical Genetics, 1998, v. 54, n. 3, p. 179, doi. 10.1111/j.1399-0004.1998.tb04281.x

By:

Elstein, Deborah;
Abrahamov, Ayala;
Zimran, Ari

Publication type:

Article