Works matching IS 00099163 AND DT 1996 AND VI 49 AND IP 6

Results: 17

Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 325, doi. 10.1111/j.1399-0004.1996.tb03801.x

By:

Ausems, Margreet G. E. M.;
Kroos, Marian A.;
Kraan, Magna;
Smeitink, Jan A. M.;
Kleijer, Wim J.;
Amstel, Hans Kristian Ploos;
Reuser, Arnold J. J.

Publication type:

Article

Branchio-oto (BO) syndrome and oculoauriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 300, doi. 10.1111/j.1399-0004.1996.tb03792.x

By:

Sensi, A.;
Cocchi, G.;
Martini, A.;
Garani, G.;
Trevisi, P.;
Calzolari, E.

Publication type:

Article

Four frequently observed polymorphisms in the 3'-UTR of human peripheral myelin protein 22 ( PMP22): identification of different haplotypes.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 321, doi. 10.1111/j.1399-0004.1996.tb03799.x

By:

Young, Peter;
Wiebusch, Heiko;
Stögbauer, Florian;
Ringelstein, Bernd;
Assmann, Gerd;
Funke, Harald

Publication type:

Article

Fibular dimelia and mirror foot without associated anomalies.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 311, doi. 10.1111/j.1399-0004.1996.tb03795.x

By:

Bayram, Hüseyin;
Herdem, Mustafa;
Temoçin, A. Kübra

Publication type:

Article

Synpolydactyly (Syndactyly Type II).

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 333, doi. 10.1111/j.1399-0004.1996.tb03804.x

By:

Goodman, F. R.

Publication type:

Article

Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 296, doi. 10.1111/j.1399-0004.1996.tb03791.x

By:

Kasirga, Erhun;
Özkinay, Ferda;
Tütüncuoğlu, Sarenur;
Aydoğdu, Sema;
Çolakoğlu, Zafer;
Musoğlu, Ahmet;
Yağci, Ayşe;
Taneli, Baha;
Yağci, Raşit V.

Publication type:

Article

Erratum.

Published in:: Clinical Genetics, 1996, v. 49, n. 6, p. 333, doi. 10.1111/j.1399-0004.1996.tb03805.x
Publication type:: Article

A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 303, doi. 10.1111/j.1399-0004.1996.tb03793.x

By:

Verma, Ram S.;
Kleyman, Svetlana M.;
Giridharan, Radha;
Ramesh, K. H.

Publication type:

Article

Bloom's syndrome in a Turkish individual.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 314, doi. 10.1111/j.1399-0004.1996.tb03796.x

By:

Yilmaz, Ertan;
Alpsoy, Erkan;
Lüleci, Güven;
Bağci, Gülseren;
Yilmaz, Gülsün Gülay;
Çetin, Lütfiye;
Başaran, Erdal

Publication type:

Article

A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 318, doi. 10.1111/j.1399-0004.1996.tb03798.x

By:

Khalifa, Mohamed M.;
Yamashiro, Hirotaka;
Duncan, Alessandra M. V.;
Hefferon, Michael;
Martin, Aryn E.

Publication type:

Article

Duodenal web in the syndrome of osteopathia striata with cranial sclerosis.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 329, doi. 10.1111/j.1399-0004.1996.tb03802.x

By:

Bar-Oz, Benjamin;
Mogle, Paul;
Ben-Neriah, Ziva;
Sheffer, Ruth;
Arad, Ilan

Publication type:

Article

Interstitial 6q deletion and Prader-Willi-like phenotype.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 306, doi. 10.1111/j.1399-0004.1996.tb03794.x

By:

Stein, Constance K.;
Stred, Susan E.;
Thomson, Laura L.;
Smith, Frank C.;
Hoo, Joe J.

Publication type:

Article

Ataxia telangiectasia syndrome with B cell lymphoma.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 331, doi. 10.1111/j.1399-0004.1996.tb03803.x

By:

Kaneko, Hideo;
Inoue, Ryousuke;
Yamada, Yukiji;
Kasahara, Kimiko;
Takami, Tsuyoshi;
Kondo, Naomi

Publication type:

Article

A Stu I polymorphism in the human androgen receptor gene (AR).

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 323, doi. 10.1111/j.1399-0004.1996.tb03800.x

By:

Lu, Jianming;
Danielsen, Mark

Publication type:

Article

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 286, doi. 10.1111/j.1399-0004.1996.tb03790.x

By:

Mackay, Katrina;
Raghunath, Michael;
Superti-Furga, Andrea;
Steinmann, Beat;
Dalgleish, Raymond

Publication type:

Article

Partial trisomy 6p due to maternal t(1;6) translocation.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 316, doi. 10.1111/j.1399-0004.1996.tb03797.x

By:

Song, Minghao;
Li, Luyun

Publication type:

Article

Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 279, doi. 10.1111/j.1399-0004.1996.tb03789.x

By:

Rauch, A.;
Pfeiffer, R. A.;
Trautmann, U.

Publication type:

Article