Works matching IS 00099163 AND DT 2012 AND VI 82 AND IP 2

Results: 17

5-Oxoprolinase deficiency: report of the first human OPLAH mutation.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 193, doi. 10.1111/j.1399-0004.2011.01728.x

By:

Almaghlouth, IA;
Mohamed, JY;
Al-Amoudi, M;
Al-Ahaidib, L;
Al-Odaib, A;
Alkuraya, FS

Publication type:

Article

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 147, doi. 10.1111/j.1399-0004.2011.01734.x

By:

Akawi, NA;
Al-Gazali, L;
Ali, BR

Publication type:

Article

Smith-Lemli-Opitz syndrome among Arabs.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 165, doi. 10.1111/j.1399-0004.2011.01742.x

By:

Al-Owain, M;
Imtiaz, F;
Shuaib, T;
Edrees, A;
Al-Amoudi, M;
Sakati, N;
Al-Hassnan, Z;
Bamashmous, H;
Rahbeeni, Z;
Al-Ameer, S;
Faqeih, E;
Meyer, B;
Al-Hashem, A;
Garout, W;
Al-Odaib, A;
Rashed, M;
Al-Aama, JY

Publication type:

Article

Detection of chromosomal aneuploidies in fetal cells isolated from maternal blood using single-chromosome dual-probe FISH analysis.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 131, doi. 10.1111/j.1399-0004.2011.01775.x

By:

Calabrese, G;
Baldi, M;
Fantasia, D;
Teresa Sessa, M;
Kalantar, M;
Holzhauer, C;
Alunni-Fabbroni, M;
Palka, G;
Sitar, G

Publication type:

Article

Corrigendum.

Published in:: 2012
Publication type:: Erratum

Response to Newman et al.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 203, doi. 10.1111/j.1399-0004.2012.01874.x

By:

Haga, SB;
O'Daniel, JM;
Tindall, GM;
Mills, R;
Lipkus, I;
Agans, R

Publication type:

Article

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 173, doi. 10.1111/j.1399-0004.2011.01727.x

By:

Eyries, M;
Coulet, F;
Girerd, B;
Montani, D;
Humbert, M;
Lacombe, P;
Chinet, T;
Gouya, L;
Roume, J;
Axford, MM;
Pearson, CE;
Soubrier, F

Publication type:

Article

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 157, doi. 10.1111/j.1399-0004.2011.01717.x

By:

Crimella, C;
Baschirotto, C;
Arnoldi, A;
Tonelli, A;
Tenderini, E;
Airoldi, G;
Martinuzzi, A;
Trabacca, A;
Losito, L;
Scarlato, M;
Benedetti, S;
Scarpini, E;
Spinicci, G;
Bresolin, N;
Bassi, MT

Publication type:

Article

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 187, doi. 10.1111/j.1399-0004.2011.01697.x

By:

Dupont, C;
Guimiot, F;
Perrin, L;
Marey, I;
Smiljkovski, D;
Le Tessier, D;
Lebugle, C;
Baumann, C;
Bourdoncle, P;
Tabet, A-C;
Aboura, A;
Benzacken, B;
Dupont, J-M

Publication type:

Article

Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 115, doi. 10.1111/j.1399-0004.2012.01848.x

By:

Haga, SB;
O'Daniel, JM;
Tindall, GM;
Mills, R;
Lipkus, IM;
Agans, R

Publication type:

Article

Familial Breast Cancer.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 105, doi. 10.1111/j.1399-0004.2012.01859.x

By:

Lalloo, F;
Evans, D G

Publication type:

Article

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 140, doi. 10.1111/j.1399-0004.2011.01756.x

By:

Nagy, R;
Wang, H;
Albrecht, B;
Wieczorek, D;
Gillessen- Kaesbach, G;
Haan, E;
Meinecke, P;
de la Chapelle, A;
Westman, JA

Publication type:

Article

Obituary: Dr. David L. Rimoin.

Published in:

2012

By:

Hall, Judith G.

Publication type:

Obituary

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 180, doi. 10.1111/j.1399-0004.2011.01732.x

By:

Kim, J;
Song, J;
Lyu, CJ;
Kim, YR;
Oh, SH;
Choi, YC;
Yoo, JH;
Choi, JR;
Kim, H;
Lee, K-A

Publication type:

Article

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 197, doi. 10.1111/j.1399-0004.2011.01828.x

By:

Aminoff, A;
Gunnar, E;
Barbaro, M;
Mannila, MN;
Duponchel, C;
Tosi, M;
Robinson, KL;
Hernell, O;
Ehrenborg, E

Publication type:

Article

A role for genetic counsellors and clinical geneticists in pharmacogenetics?

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 201, doi. 10.1111/j.1399-0004.2012.01872.x

By:

Newman, WG;
Murphy, BF;
Callard, A;
Payne, K

Publication type:

Article

Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 121, doi. 10.1111/j.1399-0004.2011.01758.x

By:

Klaassens, M;
Reinstein, E;
Hilhorst-Hofstee, Y;
Schrander, JJP;
Malfait, F;
Staal, H;
ten Have, LC;
Blaauw, J;
Roggeveen, HCJ;
Krakow, D;
De Paepe, A;
van Steensel, MAM;
Pals, G;
Graham, JM;
Schrander-Stumpel, CTRM

Publication type:

Article