Works matching IS 00099163 AND DT 2011 AND VI 80 AND IP 2

Results: 17

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 148, doi. 10.1111/j.1399-0004.2011.01715.x

By:

Schlipf, N. A.;
Schüle, R.;
Klimpe, S.;
Karle, K. N.;
Synofzik, M.;
Schicks, J.;
Riess, O.;
Schöls, L.;
Bauer, P.

Publication type:

Article

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 199, doi. 10.1111/j.1399-0004.2011.01626.x

By:

Ceballos-Picot, I.;
Guest, G.;
Moriniere, V.;
Mockel, L.;
Daudon, M.;
Malan, V.;
Antignac, C.;
Heidet, L.

Publication type:

Article

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 110, doi. 10.1111/j.1399-0004.2011.01706.x

By:

Ostergaard, P.;
Simpson, M. A.;
Jeffery, S.

Publication type:

Article

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 169, doi. 10.1111/j.1399-0004.2010.01550.x

By:

Boyadjiev, S. A.;
Kim, S.-D.;
Hata, A.;
Haldeman-Englert, C.;
Zackai, E. H.;
Naydenov, C.;
Hamamoto, S.;
Schekman, R. W.;
Kim, J.

Publication type:

Article

Exome sequencing in a family segregating for celiac disease.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 138, doi. 10.1111/j.1399-0004.2011.01714.x

By:

Szperl, A. M.;
Ricaño-Ponce, I.;
Li, J. K.;
Deelen, P.;
Kanterakis, A.;
Plagnol, V.;
van Dijk, F.;
Westra, H. J.;
Trynka, G.;
Mulder, C. J.;
Swertz, M.;
Wijmenga, C.;
Zheng, H. Ch.

Publication type:

Article

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 196, doi. 10.1111/j.1399-0004.2010.01613.x

By:

Al-Shammari, M.;
Al-Husain, M.;
Al-Kharfy, T.;
Alkuraya, F. S.

Publication type:

Article

Exome sequencing in Parkinson's disease.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 104, doi. 10.1111/j.1399-0004.2011.01722.x

By:

Bras, J. M.;
Singleton, A. B.

Publication type:

Article

'POP'! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 134, doi. 10.1111/j.1399-0004.2011.01692.x

By:

Sutton, L. M.

Publication type:

Article

Exome sequencing expedites disease gene discovery.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 133, doi. 10.1111/j.1399-0004.2011.01645.x

By:

Huang, K.

Publication type:

Article

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 177, doi. 10.1111/j.1399-0004.2010.01516.x

By:

Fradin, M.;
Stoetzel, C.;
Muller, J.;
Koob, M.;
Christmann, D.;
Debry, C.;
Kohler, M.;
Isnard, M.;
Astruc, D.;
Desprez, P.;
Zorres, C.;
Flori, E.;
Dollfus, H.;
Doray, B.

Publication type:

Article

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 161, doi. 10.1111/j.1399-0004.2011.01721.x

By:

Tsurusaki, Y.;
Okamoto, N.;
Suzuki, Y.;
Doi, H.;
Saitsu, H.;
Miyake, N.;
Matsumoto, N.

Publication type:

Article

Exome sequencing and the genetics of intellectual disability.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 117, doi. 10.1111/j.1399-0004.2011.01720.x

By:

Topper, S.;
Ober, C.;
Das, S.

Publication type:

Article

A step forward on the path towards understanding osteoporosis.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 136, doi. 10.1111/j.1399-0004.2011.01702.x

By:

Fisher, E.

Publication type:

Article

Strategies for exome and genome sequence data analysis in disease-gene discovery projects.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 127, doi. 10.1111/j.1399-0004.2011.01713.x

By:

Robinson, P. N.;
Krawitz, P.;
Mundlos, S.

Publication type:

Article

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 184, doi. 10.1111/j.1399-0004.2010.01523.x

By:

De Luca, A.;
Sarkozy, A.;
Ferese, R.;
Consoli, F.;
Lepri, F.;
Dentici, M. L.;
Vergara, P.;
De Zorzi, A.;
Versacci, P.;
Digilio, M. C.;
Marino, B.;
Dallapiccola, B.

Publication type:

Article

Changing the game with whole exome sequencing.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 101, doi. 10.1111/j.1399-0004.2011.01712.x

By:

Ostrer, H.

Publication type:

Article

Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures.

Published in:

Clinical Genetics, 2011, v. 80, n. 2, p. 191, doi. 10.1111/j.1399-0004.2010.01526.x

By:

Bartnik, M.;
Chun-Hui Tsai, A.;
Xia, Z.;
Cheung, S. W.;
Stankiewicz, P.

Publication type:

Article