Works matching IS 00099163 AND DT 2008 AND VI 74 AND IP 6

Results: 12

Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 513, doi. 10.1111/j.1399-0004.2008.01039.x

By:

Z.-Y. Wu;
Y. Lin;
W.-J. Chen;
G.-X. Zhao;
H. Xie;
S.-X. Murong;
N. Wang

Publication type:

Article

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 539, doi. 10.1111/j.1399-0004.2008.01042.x

By:

Shariat, N.;
Holladay, C. D.;
Cleary, R. K.;
Phillips, J. A.;
Patton, J. G.

Publication type:

Article

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 560, doi. 10.1111/j.1399-0004.2008.01050.x

By:

Steichen-Gersdorf, E.;
Gaßner, I.;
Superti-Furga, A.;
Ullmann, R.;
Stricker, S.;
Klopocki, E.;
Mundlos, S.

Publication type:

Article

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 522, doi. 10.1111/j.1399-0004.2008.01051.x

By:

Hertz, J. M.;
Juncker, I.;
Marcussen, N.

Publication type:

Article

Attitudes of couples identified through screening as carriers of Gaucher disease type 1.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 566, doi. 10.1111/j.1399-0004.2008.01063.x

By:

Zuckerman, S.;
Lahad, A.;
Zimran, A.;
Levy-Lahad, E.;
Sagi, M.

Publication type:

Article

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 502, doi. 10.1111/j.1399-0004.2008.01068.x

By:

Oliveira, J.;
Santos, R.;
Soares-Silva, I.;
Jorge, P.;
Vieira, E.;
Oliveira, M. E.;
Moreira, A.;
Coelho, T.;
Ferreira, J. C.;
Fonseca, M. J.;
Barbosa, C.;
Prats, J.;
Aríztegui, M. L.;
Martins, M. L.;
Moreno, T.;
Heinimann, K.;
Barbot, C.;
Pascual-Pascual, S. I.;
Cabral, A.;
Fineza, I.

Publication type:

Article

Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 546, doi. 10.1111/j.1399-0004.2008.01069.x

By:

Silvain, M.;
Bligny, D.;
Aparicio, T.;
Laforêt, P.;
Grodet, A.;
Peretti, N.;
Ménard, D.;
Djouadi, F.;
Jardel, C.;
Bégu, J. M.;
Walker, F;
Schmitz, J.;
Lachaux, A.;
Aggerbeck, L. P.;
Samson-Bouma, M. E.

Publication type:

Article

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 553, doi. 10.1111/j.1399-0004.2008.01072.x

By:

Lybæk, H.;
Øyen, N.;
Fauske, L.;
Houge, G.

Publication type:

Article

Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2.

Published in:

2008

By:

Almaguer Mederos, L. E.;
Proenza, C. L.;
Almira, Y. Rodríguez;
Batallán, K. Escalona;
Falcón, N. Santos;
E. Martínez Góngora;
Almarales, D. Cuello;
L. Velásquez Pérez;
Herrera, M. Paneque

Publication type:

Letter

A thorough MECP2 mutation analysis.

Published in:

2008

By:

Ravn, K.;
Nielsen, J. B.

Publication type:

Letter

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 531, doi. 10.1111/j.1399-0004.2008.01086.x

By:

Gervasini, C.;
Pfundt, R.;
Castronovo, P.;
Russo, S.;
Roversi, G.;
Masciadri, M.;
Milani, D.;
Zampino, G.;
Selicorni, A.;
Schoenmakers, E. F. P. M.;
Larizza, L.

Publication type:

Article

The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 493, doi. 10.1111/j.1399-0004.2008.01124.x

By:

Chaudhari, B. P.;
Plunkett, J.;
Ratajczak, C. K.;
Shen, T. T.;
DeFranco, E. A.;
Muglia, L. J.

Publication type:

Article