Works matching IS 00099163 AND DT 2010 AND VI 78 AND IP 6

Results: 19

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients Alazami et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 585, doi. 10.1111/j.1399-0004.2010.01441.x

By:

Alazami, A. M.;
Schneider, S. A.;
Bonneau, D.;
Pasquier, L.;
Carecchio, M.;
Kojovic, M.;
Steindl, K.;
De Kerdanet, M.;
Nezarati, M. M.;
Bhatia, K. P.;
Degos, B.;
Goh, E.;
Alkuraya, Falkuraya S.

Publication type:

Article

Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 598, doi. 10.1111/j.1399-0004.2010.01497.x

By:

Pacifico, Lucia;
Carducci, C.;
Poggiogalle, E.;
Caravona, F.;
Antonozzi, I.;
Chiesa, C.;
Maggiore, G

Publication type:

Article

A frameshift mutation in SANS results in atypical Usher syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 601, doi. 10.1111/j.1399-0004.2010.01500.x

By:

Bashir, R.;
Fatima, A.;
Naz, S.

Publication type:

Article

Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 517, doi. 10.1111/j.1399-0004.2010.01530_1.x

By:

Kumar, R. A.

Publication type:

Article

Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 591, doi. 10.1111/j.1399-0004.2010.01434.x

By:

Sarafoglou, K.;
Moassesfar, Saraf;
Miller, B. S.

Publication type:

Article

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria Espinós et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 554, doi. 10.1111/j.1399-0004.2010.01431.x

By:

Espinós, Carmen;
García-Cazorla, A.;
Martínez-Rubio, D.;
Martínez-Martínez, E.;
Vilaseca, M. A.;
Pérez-Dueñas, B.;
Kožich, V.;
Palau, F.;
Artuch, R.

Publication type:

Article

ERCC6 founder mutation identified in Finnish patients with COFS syndrome Jaakkola et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01424.x

By:

Jaakkola, Elisa;
Mustonen, A.;
Olsen, P.;
Miettinen, S.;
Savuoja, T.;
Raams, A.;
Jaspers, N. G. J.;
Shao, H.;
Wu, B. L.;
Ignatius, J.

Publication type:

Article

SHANK2 redemption: another synaptic protein for mental retardation and autism HotSpots.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 519, doi. 10.1111/j.1399-0004.2010.01530_2.x

By:

Kumar, R. A.

Publication type:

Article

Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? Zhang et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 570, doi. 10.1111/j.1399-0004.2010.01427.x

By:

Zhang, Y.;
Yong Dai;
Liu, Y.;
Ren, J.

Publication type:

Article

Mutational spectrum in the cardiac transcription factor gene NKX2.5 ( CSX) associated with congenital heart disease Stallmeyer et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 533, doi. 10.1111/j.1399-0004.2010.01422.x

By:

Stallmeyer, B.;
Fenge, H.;
Nowak-Göttl, U.;
Schulze-Bahr, E.

Publication type:

Article

Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia Suzuki et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 580, doi. 10.1111/j.1399-0004.2010.01433.x

By:

Suzuki, S.;
Fujisawa, D.;
Hashimoto, K.;
Asano, T.;
Maimaiti, M.;
Matsuo, K.;
Tanahashi, Y.;
Mukai, T.;
Kenji Fujieda

Publication type:

Article

Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA Song et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 524, doi. 10.1111/j.1399-0004.2010.01426.x

By:

Song, M. H.;
Lee, H. K.;
Choi, J. Y.;
Kim, S.;
Bok, J.;
Kim, U.-K.

Publication type:

Article

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 594, doi. 10.1111/j.1399-0004.2010.01447.x

By:

Steindl, Katrina L.;
Alazami, A. M.;
Bhatia, K. P.;
Wuerfel, J. T.;
Petersen, D.;
Cartolari, R.;
Neri, G.;
Klein, C.;
Mongiardo, B.;
Alkuraya, F. S.;
Schneider, Susanne A.

Publication type:

Article

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Castronovo et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 560, doi. 10.1111/j.1399-0004.2010.01408.x

By:

Castronovo, P.;
Delahaye-Duriez, A.;
Gervasini, C.;
Azzollini, J.;
Minier, F.;
Russo, S.;
Masciadri, M.;
Selicorni, A.;
Verloes, A.;
Larizza, Lidia

Publication type:

Article

MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures Zuntini et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 507, doi. 10.1111/j.1399-0004.2010.01490.x

By:

Zuntini, M.;
Salvatore, M.;
Pedrini, E.;
Parra, A.;
Sgariglia, F.;
Magrelli, A.;
Taruscio, D.;
Sangiorgi, Luca

Publication type:

Article

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy Lan et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 565, doi. 10.1111/j.1399-0004.2010.01421.x

By:

Lan, M.-Y.;
Fu, M.-H.;
Liu, Y.-F.;
Huang, C.-C.;
Chang, Y.-Y.;
Liu, J.-S.;
Peng, C.-H.;
Shun-Sheng Chen

Publication type:

Article

NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients Takada et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 575, doi. 10.1111/j.1399-0004.2010.01432.x

By:

Takada, H.;
Nomura, A.;
Ishimura, M.;
Ichiyama, M.;
Ohga, S.;
Hara, T.

Publication type:

Article

No loss, no gain: how deletions in our genome contribute to early-onset obesity HotSpots.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 521, doi. 10.1111/j.1399-0004.2010.01530_3.x

By:

Kumar, R. A.

Publication type:

Article

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis Grossmann et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 548, doi. 10.1111/j.1399-0004.2010.01419.x

By:

Grossmann, V.;
Höckner, M.;
Karmous-Benailly, H.;
Liang, D.;
Puttinger, R.;
Quadrelli, R.;
Röthlisberger, B.;
Huber, A.;
Wu, L.;
Spreiz, A.;
Fauth, C.;
Erdel, M.;
Zschocke, J.;
Utermann, G.;
Kotzot, D.

Publication type:

Article