Works matching IS 00099163 AND DT 2007 AND VI 71 AND IP 6

Results: 17

The position of the mutation within the LMNA gene determines the type and extent of tissue involvement in laminopathies.
Published in:
2007
By:
- Landires, I.;
- Pascale, J. M.;
- Motta, J.
Publication type:
Letter
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.
Published in:
2007
By:
- Eggermanna, T.;
- Elbrachta, M.;
- Haverkamp, F.;
- Schmidta, C.;
- Zerresa, K.
Publication type:
Letter
Abnormal brain structure in adults with Van der Woude syndrome.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 511, doi. 10.1111/j.1399-0004.2007.00799.x
By:
- Nopoulos, P.;
- Richman, L.;
- Andreasen, N. C.;
- Murray, J. C.;
- Schutte, B.
Publication type:
Article
Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 499, doi. 10.1111/j.1399-0004.2007.00801.x
By:
- Felton, K. E. A.;
- Gilchrist, D. M.;
- Andrew, S. E.
Publication type:
Article
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 551, doi. 10.1111/j.1399-0004.2007.00802.x
By:
- Hoffman, T. L.;
- Blanco, E.;
- Lane, A.;
- Galvin-Parton, P.;
- Gadi, I.;
- Santer, R.;
- DeLeón, D.;
- Stanley, C.;
- Wilson, T. A.
Publication type:
Article
Constitutive deficiency in DNA mismatch repair.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 483, doi. 10.1111/j.1399-0004.2007.00803.x
By:
- Felton, K. E. A.;
- Gilchrist, D. M.;
- Andrew, S. E.
Publication type:
Article
A genome-wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family Study.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 518, doi. 10.1111/j.1399-0004.2007.00804.x
By:
- Acton, R. T.;
- Snively, B. M.;
- Barton, J. C.;
- McLaren, C. E.;
- Adams, P. C.;
- Rich, S. S.;
- Eckfeldt, J. H.;
- Press, R. D.;
- Sholinsky, P.;
- Leiendecker-Foster, C.;
- McLaren, G. D.;
- Speechley, M. R.;
- Harris, E. L.;
- Dawkins, F. W.;
- Gordeuk, V. R.
Publication type:
Article
Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 558, doi. 10.1111/j.1399-0004.2007.00806.x
By:
- Rodrigues, R. G.
Publication type:
Article
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 561, doi. 10.1111/j.1399-0004.2007.00807.x
By:
- Taylor, A.;
- Tabrah, S.;
- Wang, D.;
- Sozen, M.;
- Duxbury, N.;
- Whittall, R.;
- Humphries, S. E.;
- Norbury, G.
Publication type:
Article
Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 569, doi. 10.1111/j.1399-0004.2007.00809.x
By:
- Giroux, S.;
- Dubé-Linteau, A.;
- Cardinal, G.;
- Labelle, Y.;
- Laflamme, N.;
- Giguère, Y.;
- Rousseau, F.
Publication type:
Article
Genetic testing for heart disease susceptibility: potential impact on motivation to quit smoking.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 501, doi. 10.1111/j.1399-0004.2007.00810.x
By:
- Sanderson, S. C.;
- Michie, S.
Publication type:
Article
Imiglucerase (Cerezyme<sup>®</sup>) improves quality of life in patients with skeletal manifestations of Gaucher disease.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 576, doi. 10.1111/j.1399-0004.2007.00811.x
By:
- Weinreb, N.;
- Barranger, J.;
- Packman, S.;
- Prakash-Cheng, A.;
- Rosenbloom, B.;
- Sims, K.;
- Angell, J.;
- Skrinar, A.;
- Pastores, G. M.
Publication type:
Article
The presence of germ line mosaicism in cleidocranial dysplasia.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 589, doi. 10.1111/j.1399-0004.2007.00812.x
By:
- Pal, T.;
- Napierala, D.;
- Becker, T. A.;
- Loscalzo, M.;
- Baldridge, D.;
- Lee, B.;
- Sutphen, R.
Publication type:
Article
Spectrum of mutations and variants/haplotypes of CFTR and genotype–phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 530, doi. 10.1111/j.1399-0004.2007.00813.x
By:
- Ming-Chu Chang;
- Yu-Ting Chang;
- Shu-Chen Wei;
- Yu-Wen Tien;
- Po-Chin Liang;
- I-Shiow Jan;
- Yi-Ning Su;
- Jau-Min Wong
Publication type:
Article
Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta-analysis of 105 cases.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 540, doi. 10.1111/j.1399-0004.2007.00815.x
By:
- Edelman, E. A.;
- Girirajan, S.;
- Finucane, B.;
- Patel, P. I.;
- Lupski, J. R.;
- Smith, A. C. M.;
- Elsea, S. H.
Publication type:
Article
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q.
Published in:
2007
By:
- Failla, P.;
- Romano, C.;
- Alberti, A.;
- Vasta, A.;
- Buono, S.;
- Castiglia, L.;
- Luciano, D.;
- Di Benedetto, D.;
- Fichera, M.;
- Galesi, O.
Publication type:
Letter
Response to Landires et al.
Published in:
Clinical Genetics, 2007, v. 71, n. 6, p. 594, doi. 10.1111/j.1399-0004.2007.00826.x
By:
- Ho, K.;
- Hegele, R. A.
Publication type:
Article