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
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
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
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 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
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
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
Cardioembolic stroke in Danon disease.
Published in:
2008
By:
- Spinazzi, M.;
- Fanin, M.;
- Melacini, P.;
- Nascimbeni, A. C.;
- Angelini, C.
Publication type:
Letter
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 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
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
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
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