Works matching IS 00099163 AND DT 2001 AND VI 59 AND IP 1

Results: 13

Two unbalanced translocations involving a common 6p25 region in two XY female patients.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 52, doi. 10.1034/j.1399-0004.2001.590109.x

By:

Batanian, J.R.;
Grange, D.K.;
Fleming, R.;
Gadre, B.;
Wetzel, J.

Publication type:

Article

Human artificial chromosomes: emerging from concept to reality in biomedicine.

Published in:: Clinical Genetics, 2001, v. 59, n. 1, p. 15
Publication type:: Article

BAC to basics in understanding human Down syndrome.

Published in:: Clinical Genetics, 2001, v. 59, n. 1, p. 14
Publication type:: Article

An HphI polymorphism in the E-selectin gene is associated with premature coronary artery disease.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 58, doi. 10.1034/j.1399-0004.2001.590110.x

By:

Zheng, F.;
Chevalier, J.A.;
Zhang, L.Q.;
Virgil, D.;
Ye, S.Q.;
Kwiterovich, P.O.

Publication type:

Article

HotSpots.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 12

By:

Lewis, M.E.S.;
Csonka, E.

Publication type:

Article

HotSpots.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 12

By:

Lewis, M.E.S.

Publication type:

Article

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion:deletion (387 insA:del 8 bp) in the PYGM gene causing McArdle's disease.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 48

By:

Martïn, M.A.;
Rubio, J.C.;
Garcia, A.;
Fern á ndez, M.A.;
Campos, Y.;
Krawczak, M.;
Cooper, D.N.;
Arenas, J.

Publication type:

Article

Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 42, doi. 10.1034/j.1399-0004.2001.590107.x

By:

Scotet, V.;
de Braekeleer, M.;
Audrezet, M.-P.;
Lod é, L.;
Verlingue, C.;
Qu é r é, I.;
Mercier, B.;
Dugu é p é roux, I.;
Codet, J.-P.;
Moineau, M.-P.;
Parent, P.;
F é rec, C.

Publication type:

Article

The molecular basis of cystic fibrosis in South Africa.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 37, doi. 10.1034/j.1399-0004.2001.590106.x

By:

Goldman, A.;
Labrum, R.;
Claustres, M.;
Desgeorges, M.;
Guittard, C.;
Wallace, A.;
Ramsay, M.

Publication type:

Article

Split hand:split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 28, doi. 10.1034/j.1399-0004.2001.590105.x

By:

Tackels-Horne, D.;
Toburen, A.;
Sangiorgi, E.;
Gurrieri, F.;
de Mollerat, X.;
Fischetto, R.;
Causio, F.;
Clarkson, K.;
Stevenson, R.E.;
Schwartz, C.E.

Publication type:

Article

Grebe syndrome in Vietnamese sisters: not Agent Orange.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 25, doi. 10.1034/j.1399-0004.2001.590104.x

By:

Lin, A.E.;
Wheeler, P.G.;
Smith, R.;
Chudley, Albert E.

Publication type:

Article

The beta-globin locus control region versus gene therapy vectors: a struggle for expression.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 17, doi. 10.1034/j.1399-0004.2001.590103.x

By:

Ellis, J.;
Pannell, D.;
McInnes, Roderick R.

Publication type:

Article

Human HOX gene mutations.

Published in:

Clinical Genetics, 2001, v. 59, n. 1, p. 1, doi. 10.1034/j.1399-0004.2001.590101.x

By:

Goodman, F.R.;
Scambler, P.J.

Publication type:

Article