Works matching IS 00099163 AND DT 2008 AND VI 73 AND IP 4

Results: 19

Restless legs syndrome: an update on genetics and future perspectives.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 297, doi. 10.1111/j.1399-0004.2007.00937.x

By:

Pichler, I.;
Hicks, A. A.;
Pramstaller, P. P.

Publication type:

Article

A new function of TFIIH explains the neurological symptoms in trichothiodystrophy.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 316, doi. 10.1111/j.1399-0004.2008.00962_2.x

By:

Ehrnhoefer, D. E.

Publication type:

Article

Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa.

Published in:

2008

By:

Hartiala, J.;
Wijesuriya, H.;
Buchanan, T. A.;
Watanabe, R. M.;
Allayee, H.;
Chang, A. J.;
Klin, M. M.;
Currie, Y.;
Perez, M. O.

Publication type:

Letter

Cardioembolic stroke in Danon disease.

Published in:

2008

By:

Spinazzi, M.;
Fanin, M.;
Melacini, P.;
Nascimbeni, A. C.;
Angelini, C.

Publication type:

Letter

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 346, doi. 10.1111/j.1399-0004.2007.00957.x

By:

Paracchini, V.;
Seia, M.;
Coviello, D.;
Porcaro, L;
Costantino, L.;
Capasso, P.;
Degiorgio, D.;
Padoan, R.;
Corbetta, C.;
Claut, L.;
Costantini, D.;
Colombo, C.

Publication type:

Article

Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 353, doi. 10.1111/j.1399-0004.2007.00960.x

By:

Gabbett, M. T.;
Peters, G. B.;
Carmichael, J. M.;
Darmanian, A. P.;
Collins, F. A.

Publication type:

Article

Genetic modifiers of ataxin-3-mediated neurodegeneration: approaching protein misfolding from different angles.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 315, doi. 10.1111/j.1399-0004.2008.00962_1.x

By:

Ehrnhoefer, D. E.

Publication type:

Article

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

Published in:

2008

By:

Yuan, H. J.;
Han, D. Y.;
Sun, Q.;
Yan, D.;
Sun, H. J.;
Tao, R.;
Cheng, J.;
Qin, W.;
Angeli, S.;
Ouyang, X. M.;
Yang, S. Z.;
Feng, L.;
Cao, J. Y.;
Feng, G. Y.;
Wang, Y. F.;
Dai, P.;
Zhai, S. Q;
Yang, W. Y.;
He, L.;
Liu, X. Z.

Publication type:

Letter

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 360, doi. 10.1111/j.1399-0004.2008.00963.x

By:

Bernal, S.;
Solans, T.;
Gamundi, M. J.;
Hernan, I.;
de Jorge, L.;
Carballo, M.;
Navarro, R.;
Tizzano, E.;
Ayuso, C.;
Baiget, M.

Publication type:

Article

The impact of genetic testing for Crohn’s disease, risk magnitude and graphical format on motivation to stop smoking: an experimental analogue study.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 306, doi. 10.1111/j.1399-0004.2008.00964.x

By:

Wright, A. J.;
Takeichi, C.;
Whitwell, S. C. L.;
Hankins, M.;
Marteau, T. M.

Publication type:

Article

CMT4J: Charcot–Marie–Tooth disorder caused by mutations in FIG4.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 318, doi. 10.1111/j.1399-0004.2008.00962_3.x

By:

de Leeuw, C. N.

Publication type:

Article

Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 331, doi. 10.1111/j.1399-0004.2008.00973.x

By:

Edison, E. S.;
Shaji, R. V.;
Devi, S. G.;
Moses, A.;
Viswabandhya, A.;
Mathews, V.;
George, B.;
Srivastava, A.;
Chandy, M.

Publication type:

Article

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 367, doi. 10.1111/j.1399-0004.2008.00966.x

By:

Peters, L. M.;
Fridell, R. A.;
Boger, E. T.;
San Agustin, T. B.;
Madeo, A. C.;
Griffith, A. J.;
Friedman, T. B.;
Morell, R. J.

Publication type:

Article

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 320, doi. 10.1111/j.1399-0004.2008.00968.x

By:

Shoukier, M.;
Teske, U.;
Weise, A.;
Engel, W.;
Argyriou, L.

Publication type:

Article

Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 338, doi. 10.1111/j.1399-0004.2008.00974.x

By:

Evans, D. G. R.;
Young, K.;
Bulman, M.;
Shenton, A.;
Wallace, A.;
Lalloo, F.

Publication type:

Article

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 373, doi. 10.1111/j.1399-0004.2008.00975.x

By:

Leoyklang, P.;
Suphapeetiporn, K.;
Wananukul, S.;
Shotelersuk, V.

Publication type:

Article

FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.

Published in:

Clinical Genetics, 2008, v. 73, n. 4, p. 380, doi. 10.1111/j.1399-0004.2008.00977.x

By:

Amorosi, S.;
D'Armiento, M.;
Calcagno, G.;
Russo, I.;
Adriani, M.;
Christiano, A. M.;
Weiner, L.;
Brissette, J. L.;
Pignata, C.

Publication type:

Article

Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44.

Published in:

2008

By:

Bhatti, A.;
Lee, K.;
McDonald, M.-L.;
Hassan, M. J.;
Gutala, R.;
Ansar, M.;
Ahmad, W.;
Leal, S. M.

Publication type:

Letter

Corrigendum.

Published in:: 2008
Publication type:: Correction Notice