Works matching IS 00099163 AND DT 2010 AND VI 78 AND IP 3

Results: 12

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01379.x

By:

Hofer, D.;
Paul, K.;
Fantur, K.;
Beck, M.;
Roubergue, A.;
Vellodi, A.;
Poorthuis, B. J.;
Michelakakis, H.;
Plecko, B.;
Paschke, E.

Publication type:

Article

Developmental perspectives on copy number abnormalities of the 22q11.2 region.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 201, doi. 10.1111/j.1399-0004.2010.01456.x

By:

Tan, T. Y.;
Gordon, C. T.;
Amor, D. J.;
Farlie, P. G.

Publication type:

Article

A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 275, doi. 10.1111/j.1399-0004.2010.01384.x

By:

van Reeuwijk, J.;
Olderode-Berends, M. J. W.;
van den Elzen, C.;
Brouwer, O. F.;
Roscioli, T.;
van Pampus, M. G.;
Scheffer, H.;
Brunner, H. G.;
van Bokhoven, H.;
Hol, F. A.

Publication type:

Article

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 247, doi. 10.1111/j.1399-0004.2010.01375.x

By:

Malik, S.;
Kakar, N.;
Hasnain, S.;
Ahmad, J.;
Wilcox, E. R.;
Naz, S.

Publication type:

Article

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 257, doi. 10.1111/j.1399-0004.2010.01376.x

By:

Clauss, F.;
Chassaing, N.;
Smahi, A.;
Vincent, M. C.;
Calvas, P.;
Molla, M.;
Lesot, H.;
Alembik, Y.;
Hadj-Rabia, S.;
Bodemer, C.;
Manière, M. C.;
Schmittbuhl, M.

Publication type:

Article

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 282, doi. 10.1111/j.1399-0004.2010.01380.x

By:

Takano, K.;
Lyons, M.;
Moyes, C.;
Jones, J.;
Schwartz, C. E.

Publication type:

Article

Congenital central hypoventilation syndrome: genotype–phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 289, doi. 10.1111/j.1399-0004.2010.01383.x

By:

Parodi, S.;
Vollono, C.;
Baglietto, M. P.;
Balestri, M.;
Di Duca, M.;
Landri, P. A.;
Ceccherini, I.;
Ottonello, G.;
Cilio, M. R.

Publication type:

Article

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 267, doi. 10.1111/j.1399-0004.2010.01387.x

By:

Wilch, E.;
Azaiez, H.;
Fisher, R. A.;
Elfenbein, J.;
Murgia, A.;
Birkenhäger, R.;
Bolz, H.;
da Silva-Costa, S. M.;
del Castillo, I.;
Haaf, T.;
Hoefsloot, L.;
Kremer, H.;
Kubisch, C.;
Le Marechal, C.;
Pandya, A.;
Sartorato, E. L.;
Schneider, E.;
Van Camp, G.;
Wuyts, W.;
Smith, R. J. H.

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

Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 296, doi. 10.1111/j.1399-0004.2010.01428.x

By:

Gucev, Z.;
Koceva, S.;
Marinaki, A.;
Fairbanks, L.;
Kirovski, I.;
Tasic, V.

Publication type:

Article

Quality of life and psychological distress in patients with Peutz–Jeghers syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 219, doi. 10.1111/j.1399-0004.2010.01469.x

By:

van Lier, M. G. F.;
Mathus-Vliegen, E. M. H.;
van Leerdam, M. E.;
Kuipers, E. J.;
Looman, C. W. N.;
Wagner, A.;
Vanheusden, K.

Publication type:

Article

Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 227, doi. 10.1111/j.1399-0004.2010.01470.x

By:

Kalina, M. A.;
Kalina-Faska, B.;
Paprocka, J.;
Jamroz, E.;
Pyrkosz, A.;
Marszał, E.;
Małecka-Tendera, E

Publication type:

Article