Works matching IS 00099163 AND DT 2010 AND VI 78

Results: 117

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

C - Dermatology and Genetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 44, doi. 10.1111/j.1399-0004.2010.01560.x
Publication type:: Article

F - Genetics Counselling and Predictive Diagnostics.

Published in:: Clinical Genetics, 2010, v. 78, p. 49, doi. 10.1111/j.1399-0004.2010.01563.x
Publication type:: Article

N - Cytogenetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 111, doi. 10.1111/j.1399-0004.2010.01571.x
Publication type:: Article

2 - Oral Presentations.

Published in:: Clinical Genetics, 2010, v. 78, p. 12, doi. 10.1111/j.1399-0004.2010.01557.x
Publication type:: Article

K - Stem Cell Genetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 90, doi. 10.1111/j.1399-0004.2010.01568.x
Publication type:: Article

M - Pre-Implantation and Prenatal Genetic Diagnosis.

Published in:: Clinical Genetics, 2010, v. 78, p. 104, doi. 10.1111/j.1399-0004.2010.01570.x
Publication type:: Article

G - Immunogenetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 52, doi. 10.1111/j.1399-0004.2010.01564.x
Publication type:: Article

J - Personal medical and pharmacogenetic.

Published in:: Clinical Genetics, 2010, v. 78, p. 88, doi. 10.1111/j.1399-0004.2010.01567.x
Publication type:: Article

E - Gene therapy and therapy on genetic diseases.

Published in:: Clinical Genetics, 2010, v. 78, p. 48, doi. 10.1111/j.1399-0004.2010.01562.x
Publication type:: Article

D - Epigenetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 46, doi. 10.1111/j.1399-0004.2010.01561.x
Publication type:: Article

X - Late Breaking Abstracts.

Published in:: Clinical Genetics, 2010, v. 78, p. 112, doi. 10.1111/j.1399-0004.2010.01584.x
Publication type:: Article

Refining the phenotype associated with MEF2C haploinsufficiency.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 471, doi. 10.1111/j.1399-0004.2010.01413.x

By:

Novara, F.;
Beri, S.;
Giorda, R.;
Ortibus, E.;
Nageshappa, S.;
Darra, F.;
dalla Bernardina, B.;
Zuffardi, O.;
Van Esch, H.

Publication type:

Article

B - Data Analysis in Bioinformatics in Medical Genetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 42, doi. 10.1111/j.1399-0004.2010.01559.x
Publication type:: Article

A large cohort study of GJB2 mutations in Japanese hearing loss patients.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 464, doi. 10.1111/j.1399-0004.2010.01407.x

By:

Tsukada, K.;
Nishio, S.;
Usami, S.

Publication type:

Article

I - Cardio Genetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 78, doi. 10.1111/j.1399-0004.2010.01566.x
Publication type:: Article

Nature vs nurture: genetic susceptibility and weight loss in hepatic steatosis.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 422, doi. 10.1111/j.1399-0004.2010.01519_3.x

By:

Huang, K.

Publication type:

Article

Unexpected combination of inherited chorea-acanthocytosis with MDR3 ( ABCB4) defect mimicking Wilson's disease.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 294, doi. 10.1111/j.1399-0004.2010.01386.x

By:

Anheim, M.;
Chamouard, P.;
Rudolf, G.;
Ellero, B.;
Vercueil, L.;
Goichot, B.;
Marescaux, C.;
Tranchant, C.

Publication type:

Article

1 - Speakers' Texts.

Published in:: Clinical Genetics, 2010, v. 78, p. 1, doi. 10.1111/j.1399-0004.2010.01583.x
Publication type:: Article

Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 420, doi. 10.1111/j.1399-0004.2010.01519_2.x

By:

Huang, K.

Publication type:

Article

H - Cancer genetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 57, doi. 10.1111/j.1399-0004.2010.01565.x
Publication type:: Article

A - Dysmorphology and Multiple Anomalies.

Published in:: Clinical Genetics, 2010, v. 78, p. 17, doi. 10.1111/j.1399-0004.2010.01558.x
Publication type:: Article

L - Neurogenetic Diseases and Mental Retardation.

Published in:: Clinical Genetics, 2010, v. 78, p. 95, doi. 10.1111/j.1399-0004.2010.01569.x
Publication type:: Article

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 441, doi. 10.1111/j.1399-0004.2010.01391.x

By:

Urreizti, R.;
Moya-García, A. A.;
Pino-Ángeles, A.;
Cozar, M.;
Langkilde, A.;
Fanhoe, U.;
Esteves, C.;
Arribas, J.;
Vilaseca, M. A.;
Pérez-Dueñas, B.;
Pineda, M.;
González, V.;
Artuch, R.;
Baldellou, A.;
Vilarinho, L.;
Fowler, B.;
Ribes, A.;
Sánchez-Jiménez, F.;
Grinberg, D.;
Balcells, S.

Publication type:

Article

Identification and molecular characterization of two novel chromosomal deletions associated with autism.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 449, doi. 10.1111/j.1399-0004.2010.01395.x

By:

Chien, W.-H.;
Gau, S. S.-F.;
Wu, Y.-Y.;
Huang, Y.-S.;
Fang, J.-S.;
Chen, Y.-J.;
Soong, W.-T.;
Chiu, Y.-N.;
Chen, C.-H.

Publication type:

Article

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 478, doi. 10.1111/j.1399-0004.2010.01405.x

By:

Rafiq, M. A.;
Ansar, M.;
Marshall, C. R.;
Noor, A.;
Shaheen, N.;
Mowjoodi, A.;
Khan, M. A.;
Ali, G.;
Amin-ud-Din, M.;
Feuk, L.;
Vincent, J. B.;
Scherer, S. W.

Publication type:

Article

The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 457, doi. 10.1111/j.1399-0004.2010.01406.x

By:

Stratakis, C. A.;
Tichomirowa, M. A.;
Boikos, S.;
Azevedo, M. F.;
Lodish, M.;
Martari, M.;
Verma, S.;
Daly, A. F.;
Raygada, M.;
Keil, M. F.;
Papademetriou, J.;
Drori-Herishanu, L.;
Horvath, A.;
Tsang, K. M.;
Nesterova, M.;
Franklin, S.;
Vanbellinghen, J.-F.;
Bours, V.;
Salvatori, R.;
Beckers, A.

Publication type:

Article

Large genomic rearrangements in mutation-negative BRCA families: a population-based study.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 405, doi. 10.1111/j.1399-0004.2010.01463.x

By:

Rodríguez, Marta;
Torres, Asuncion;
Borràs, Joan;
Salvat, Mònica;
Gum, Josep

Publication type:

Article

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 432, doi. 10.1111/j.1399-0004.2010.01417.x

By:

Tonelli, A.;
Romaniello, R.;
Grasso, R.;
Cavallini, A.;
Righini, A.;
Bresolin, N.;
Borgatti, R.;
Bassi, M. T.

Publication type:

Article

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 484, doi. 10.1111/j.1399-0004.2010.01418.x

By:

Wooderchak, W.;
Gedge, F.;
McDonald, M.;
Krautscheid, P.;
Wang, X.;
Malkiewicz, J.;
Bukjiok, C. J.;
Lewis, T.;
Bayrak-Toydemir, P.

Publication type:

Article

Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 334, doi. 10.1111/j.1399-0004.2010.01484.x

By:

Dommering, CJ;
van den Heuvel, MR;
Moll, AC;
Imhof, SM;
Meijers-Heijboer, H;
Henneman, L

Publication type:

Article

PALB2 mutations in European familial pancreatic cancer families.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 490, doi. 10.1111/j.1399-0004.2010.01425.x

By:

Slater, E. P.;
Langer, P.;
Niemczyk, E.;
Strauch, K.;
Butler, J.;
Habbe, N.;
Neoptolemos, J. P.;
Greenhalf, W.;
Bartsch, D. K.

Publication type:

Article