Works matching IS 00099163 AND DT 2009 AND VI 76 AND IP 2

Results: 16

A successful screening for Fabry disease in a Chinese dialysis patient population.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 219, doi. 10.1111/j.1399-0004.2009.01166.x

By:

Lv, Y. L.;
Wang, W. M.;
Pan, X. X.;
Wang, Z. H.;
Chen, N.;
Ye, Z. Y.;
Xu, J.

Publication type:

Article

Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 205, doi. 10.1111/j.1399-0004.2009.01191.x

By:

Lindquist, S. G.;
Schwartz, M.;
Batbayli, M.;
Waldemar, G.;
Nielsen, J. E.

Publication type:

Article

SURF1 missense mutations promote a mild Leigh phenotype.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 195, doi. 10.1111/j.1399-0004.2009.01195.x

By:

Piekutowska-Abramczuk, D.;
Magner, M.;
Popowska, E.;
Pronicki, M.;
Karczmarewicz, E.;
Sykut-Cegielska, J.;
Kmiec, T.;
Jurkiewicz, E.;
Szymanska-Debinska, T.;
Bielecka, L.;
Krajewska-Walasek, M.;
Vesela, K.;
Zeman, J.;
Pronicka, E.

Publication type:

Article

IFRD1 modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 148, doi. 10.1111/j.1399-0004.2009.01247_2.x

By:

Ehrnhoefer, D. E.

Publication type:

Article

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 152, doi. 10.1111/j.1399-0004.2009.01202.x

By:

Seong, M.-W.;
Cho, S. I.;
Noh, D.-Y.;
Han, W.;
Kim, S.-W.;
Park, C.-M.;
Park, H.-W.;
Kim, S. Y.;
Kim, J. Y.;
Park, S. S.

Publication type:

Article

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 214, doi. 10.1111/j.1399-0004.2009.01206.x

By:

Chou, A.;
Boerkoel, C.;
du Souich, C.;
Rupps, R.

Publication type:

Article

Validation of MCADD newborn screening.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 179, doi. 10.1111/j.1399-0004.2009.01217.x

By:

Maier, E. M.;
Pongratz, J.;
Muntau, A. C.;
Liebl, B.;
Nennstiel-Ratzel, U.;
Busch, U.;
Fingerhut, R.;
Olgemöller, B.;
Roscher, A. A.;
Röschinger, W.

Publication type:

Article

BRCA2 alteration is important in clear cell carcinoma of the ovary.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 161, doi. 10.1111/j.1399-0004.2009.01207.x

By:

Goodheart, M. J.;
Rose, S. L.;
Hattermann-Zogg, M.;
Smith, B. J.;
De Young, B. R.;
Buller, R. E.

Publication type:

Article

Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 168, doi. 10.1111/j.1399-0004.2009.01200.x

By:

Rudnik-Schöneborn, S.;
Berg, C.;
Zerres, K.;
Betzler, C.;
Grimm, T.;
Eggermann, T.;
Eggermann, K.;
Wirth, R.;
Wirth, B.;
Heller, R.

Publication type:

Article

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 210, doi. 10.1111/j.1399-0004.2009.01235.x

By:

Brancati, F.;
Bernardini, L.;
Cavalcanti, D. P.;
Romano, C.;
Novelli, A.;
Dallapiccola, B.

Publication type:

Article

The brachydactylies: a molecular disease family.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 123, doi. 10.1111/j.1399-0004.2009.01238.x

By:

Mundlos, S.

Publication type:

Article

Development and disease of the photoreceptor cilium.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 137, doi. 10.1111/j.1399-0004.2009.01240.x

By:

Ramamurthy, V.;
Cayouette, M.

Publication type:

Article

MCAD mutations identified in newborn screening cause different levels of enzymatic dysfunction.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 146, doi. 10.1111/j.1399-0004.2009.01247_1.x

By:

Ehrnhoefer, D. E.

Publication type:

Article

SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 149, doi. 10.1111/j.1399-0004.2009.01247_3.x

By:

Huang, K.

Publication type:

Article

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.

Published in:

Clinical Genetics, 2009, v. 76, n. 2, p. 188, doi. 10.1111/j.1399-0004.2009.01236.x

By:

Molinari, F.;
Kaminska, A.;
Fiermonte, G.;
Boddaert, N.;
Raas-Rothschild, A.;
Plouin, P.;
Palmieri, L.;
Brunelle, F.;
Palmieri, F.;
Dulac, O.;
Munnich, A.;
Colleaux, L.

Publication type:

Article

Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954–March 14, 2009.

Published in:

2009

By:

Meschino, Wendy S.;
Farrell, Sandra A.;
Allanson, Judith

Publication type:

Obituary