Works matching IS 00099163 AND DT 1998 AND VI 53 AND IP 6

Results: 20

Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 460, doi. 10.1111/j.1399-0004.1998.tb02595.x

By:

Tiller, George E.;
Cassidy, Suzanne B.;
Wensel, Christine;
Wenstrup, Richard J.

Publication type:

Article

Caught in the middle: two genes troubled by trinucleotide expansion in myotonic dystrophy.

Published in:: Clinical Genetics, 1998, v. 53, n. 6, p. 426, doi. 10.1111/j.1399-0004.1998.tb02588.x
Publication type:: Article

Announcements.

Published in:: Clinical Genetics, 1998, v. 53, n. 6, p. 505, doi. 10.1111/j.1399-0004.1998.tb02606.x
Publication type:: Article

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 482, doi. 10.1111/j.1399-0004.1998.tb02600.x

By:

Holzinger, Andreas;
Maier, Esther;
Stöckler-lpsiroglu, Sylvia;
Braun, Andreas;
Roscher, Adelbert A.

Publication type:

Article

Sclerosteosis: report of a case in a black African man.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 497, doi. 10.1111/j.1399-0004.1998.tb02603.x

By:

Tacconi, Paolo;
Ferrigno, Paola;
Cocco, Luigi;
Carinas, Antonino;
Tamburini, Giorgio;
Bergonzi, Paolo;
Giagheddu, Marcello

Publication type:

Article

Getting too excited: potassium channelopathies and newborn epilepsy.

Published in:: Clinical Genetics, 1998, v. 53, n. 6, p. 428, doi. 10.1111/j.1399-0004.1998.tb02589.x
Publication type:: Article

Rsal and Mael intragenic RFLPs in the human HERG gene.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 504, doi. 10.1111/j.1399-0004.1998.tb02605.x

By:

Fung, D.;
Zhang, L.;
French, J.;
Bailey, B.;
Trent, RJ

Publication type:

Article

Finding the significance of stats: insights into FGFR3 activating mutations in Thanatophoric dysplasia.

Published in:: Clinical Genetics, 1998, v. 53, n. 6, p. 430, doi. 10.1111/j.1399-0004.1998.tb02590.x
Publication type:: Article

Recessive or dominant? Reclassification in the molecular age.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 423, doi. 10.1111/j.1399-0004.1998.tb02587.x

By:

Zlotogora, Joël

Publication type:

Article

A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 474, doi. 10.1111/j.1399-0004.1998.tb02598.x

By:

Bonuccelli, Gloria;
Regis, Stefano;
Filocamo, Mirella;
Corsolini, Fabio;
Caroli, Francesco;
Gatti, Rosanna

Publication type:

Article

Exploring gene-gene interactions in the etiology of neural tube defects.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 456, doi. 10.1111/j.1399-0004.1998.tb02594.x

By:

Botto, Lorenzo D.;
Mastroiacovo, Pierpaolo

Publication type:

Article

Detection of factor V Leiden mutation in severe pre-eclamptic Hungarian women.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 478, doi. 10.1111/j.1399-0004.1998.tb02599.x

By:

Nagy, Bálint;
Tóth, Tamás;
Jr, János Rigó;
Karádi, István;
Romics, László;
Papp, Zoltán

Publication type:

Article

Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 440, doi. 10.1111/j.1399-0004.1998.tb02592.x

By:

Hamel, BCJ;
Pals, G.;
Engels, CHAM;
Akker, E.;
Boers, GHJ;
Dongen, PWJ;
Steijlen, PM

Publication type:

Article

Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 433, doi. 10.1111/j.1399-0004.1998.tb02591.x

By:

Nissen, Henrik;
Hansen, Annebirthe B.;
Guldberg, Per;
Hansen, Torben S.;
Petersen, Niels E.;
Harder, Mogens

Publication type:

Article

A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22).

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 466, doi. 10.1111/j.1399-0004.1998.tb02596.x

By:

Balducci, R.;
Toscano, V.;
Tedeschi, B.;
Mangiantini, A.;
Toscano, R.;
Galasso, C.;
Cianfarani, S.;
Boscherini, B.

Publication type:

Article

Identification of microsatellite markers tightly linked to the Gli2 putative zinc finger transcription factor gene.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 488, doi. 10.1111/j.1399-0004.1998.tb02601.x

By:

Stone, Deborah L.;
Biesecker, Leslie G.

Publication type:

Article

A novel Dral polymorphism in the 3' untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 502, doi. 10.1111/j.1399-0004.1998.tb02604.x

By:

Lam, Ching-Wan;
üang, Min-Hui;
Pang, Chi-Pui;
Tong, Sui-Fan;
Wong, Lee-Jun C.

Publication type:

Article

Prenatal identification of de novo marker chromosomes using micro-FISH approach.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 490, doi. 10.1111/j.1399-0004.1998.tb02602.x

By:

Xu, Jia;
Fong, Chin-To;
Cedrone1, Edward;
Sullivan, Julie;
Wang, Nancy

Publication type:

Article

Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 447, doi. 10.1111/j.1399-0004.1998.tb02593.x

By:

Hunter, Alasdair;
Wright, Peter;
Cappelli, Mario;
Kasaboski, Ann;
Surh, Linda

Publication type:

Article

Presenilin 1 Met146Leu variant due to an A&T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 469, doi. 10.1111/j.1399-0004.1998.tb02597.x

By:

Morelli, Laura;
Prat, María I.;
Levy, Efrat;
Mangone, Carlos A.;
Castaño, Eduardo M.

Publication type:

Article