Works matching IS 00099163 AND DT 1999 AND VI 55 AND IP 2

Results: 17

Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 88, doi. 10.1034/j.1399-0004.1999.550204.x

By:

Köhler, Jutta;
Röhrig, Dorothee;
Bathke, Klaus D;
Koch, Manuela C

Publication type:

Article

Glaucoma genetics, present and future.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 71, doi. 10.1034/j.1399-0004.1999.550201.x

By:

Friedman, James S;
Walter, Michael A

Publication type:

Article

The tools of gene therapy can create new insights in developmental biology.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 81, doi. 10.1034/j.1399-0004.1999.550202-2.x

By:

Lewis, Me Suzanne

Publication type:

Article

Mutations associated with very late-onset metachromatic leukodystrophy.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 130, doi. 10.1034/j.1399-0004.1999.550211.x

By:

Perusi, Chiara;
Lira, Macarena Gomez;
Duyff, Ruurd F.;
Weinstein, Henri C.;
Pignatti, Pier Franco;
Rizzuto, Nicola;
Salviati, Alessandro

Publication type:

Article

Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 95, doi. 10.1034/j.1399-0004.1999.550205.x

By:

Al-Gazali, Li;
Sztriha, L;
Dawodu, A;
Bakir, M;
Varghese, M;
Varady, E;
Scorer, J;
Abdulrazzaq, Ym;
Bener, A;
Padmanabhan, R

Publication type:

Article

Intra-amniotic viral gene transfer highlights the potential for in utero molecular therapies.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 80, doi. 10.1034/j.1399-0004.1999.550202-1.x

By:

Lewis, Me Suzanne

Publication type:

Article

Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype.

Published in:

1999

By:

Manouvrier, S.;
Boute, O.;
Viot, G.;
Delobel, B.

Publication type:

Case Study

Fetal gene therapy confers stable gene expression, germline and widespread somatic cell transfection.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 82, doi. 10.1034/j.1399-0004.1999.550202-3.x

By:

Lewis, Me Suzanne

Publication type:

Article

Fetal gene therapy – a focus on prevention versus convention.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 80, doi. 10.1034/j.1399-0004.1999.550202.x

By:

Lewis, Me Suzanne

Publication type:

Article

Genetic landmarks through philately – porphyria and its effect on world history.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 85, doi. 10.1034/j.1399-0004.1999.550203.x

By:

Chudley, Albert E;
Haworth, James C

Publication type:

Article

Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 110, doi. 10.1034/j.1399-0004.1999.550207.x

By:

Booms, Patrick;
Cisler, Jason;
Mathews, Kurt R.;
Godfrey, Maurice;
Tiecke, Frank;
Kaufmann, Ursula C.;
Vetter, Ulrich;
Hagemeier, Christian;
Robinson, Peter N.

Publication type:

Article

Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 103, doi. 10.1034/j.1399-0004.1999.550206.x

By:

Roifman, Chaim M

Publication type:

Article

Alternative splicing of exon 37 of FBN1 deletes part of an ‘eight-cysteine’ domain resulting in the Marfan syndrome.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 118, doi. 10.1034/j.1399-0004.1999.550208.x

By:

McGrory, Joel;
Cole, William G

Publication type:

Article

Centromere–telomere (12;8p) fusion, telomeric 12q translocation, and i(12p) trisomy1.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 122, doi. 10.1034/j.1399-0004.1999.550209.x

By:

Rivera, Horacio;
Vásquez, Ana Isabel;
Perea, Francisco J

Publication type:

Article

Preaxial polydactyly in an infant with Down’s syndrome.

Published in:

1999

By:

Ramanan, A.V.;
Hussain, K.;
Kempley, S.T.;
Goodman, F.R.

Publication type:

Case Study

Correspondence.

Published in:

1999

By:

Whitehead, A.S.;
Molloy, A.M.;
Ramsbottom, D.;
Weir, D.G.;
Kirke, P.N.;
Mills, J.L.;
Gallagher, P.M.;
Scott, J.M.

Publication type:

Letter

Obituary.

Published in:

Clinical Genetics, 1999, v. 55, n. 2, p. 135, doi. 10.1034/j.1399-0004.1999.550214.x

By:

Hamerton, John L.;
Chudley, Albert E.;
Ramsbottom, D.;
Weir, D.G.;
Kirke, P.N.;
Mills, J.L.;
Gallagher, P.M.;
Scott, J.M.

Publication type:

Article