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Results: 18

Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis.
Published in:
2007
By:
- Lenzinia, Elisabetta;
- D'Ottaviob, Giuseppina;
- Città, Angelo;
- Benussid, Daniela Gambel;
- Petixd, Vincenzo;
- Pecile, Vanna
Publication type:
Letter
Crouzon with acanthosis nigricans. Further delineation of the syndrome.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 405, doi. 10.1111/j.1399-0004.2007.00884.x
By:
- Arnaud-López, L.;
- Fragoso, R.;
- Mantilla-Capacho, J.;
- Barros-Núñez, P.
Publication type:
Article
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 420, doi. 10.1111/j.1399-0004.2007.00887.x
By:
- Watts, G. D. J.;
- Thomasova, D.;
- Ramdeen, S. K.;
- Fulchiero, E. C.;
- Mehta, S. G.;
- Drachman, D. A.;
- Weihl, C. C.;
- Jamrozik, Z.;
- Kwiecinski, H.;
- Kaminska, A.;
- Kimonis, V. E.
Publication type:
Article
A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 471, doi. 10.1111/j.1399-0004.2007.00889.x
By:
- Cheng, J.;
- Han, D. Y.;
- Dai, P.;
- Sun, H. J.;
- Tao, R.;
- Sun, Q.;
- Yan, D.;
- Qin, W.;
- Wang, H. Y.;
- Ouyang, X. M.;
- Yang, S. Z.;
- Cao, J. Y.;
- Feng, G. Y.;
- Du, L. L.;
- Zhang, Y. Z.;
- Zhai, S. Q.;
- Yang, W. Y.;
- Liu, X. Z.;
- He, L.;
- Yuan, H. J.
Publication type:
Article
Genetics of Noonan syndrome – a new gene, and the search is still on.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 402, doi. 10.1111/j.1399-0004.2007.00867.x
By:
- Stein, R. A.
Publication type:
Article
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 427, doi. 10.1111/j.1399-0004.2007.00869.x
By:
- Caroli, F.;
- Biancheri, R.;
- Seri, M.;
- Rossi, A.;
- Pessagno, A.;
- Bugiani, M.;
- Corsolini, F.;
- Savasta, S.;
- Romano, S.;
- Antonelli, C.;
- Romano, A.;
- Pareyson, D.;
- Gambero, P.;
- Uziel, G.;
- Ravazzolo, R.;
- Ceccherini, I.;
- Filocamo, M.
Publication type:
Article
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia.
Published in:
2007
Publication type:
Letter
Parkin polymorphisms: risk for Parkinson’s disease in Indian population.
Published in:
2007
Publication type:
Letter
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 464, doi. 10.1111/j.1399-0004.2007.00879.x
By:
- Engenheiro, E.;
- Saraiva, J.;
- Carreira, I.;
- Ramos, L.;
- Ropers, H. H.;
- Silva, E.;
- Tommerup, N.;
- Tümer, Z.
Publication type:
Article
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 454, doi. 10.1111/j.1399-0004.2007.00880.x
By:
- Auber, B.;
- Burfeind, P.;
- Herold, S.;
- Schoner, K.;
- Simson, G.;
- Rauskolb, R.;
- Rehder, H.
Publication type:
Article
Formalin-fixed paraffin-embedded clinical tissues show spurious copy number changes in array-CGH profiles.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 441, doi. 10.1111/j.1399-0004.2007.00882.x
By:
- McSherry, E. A.;
- Mc Goldrick, A.;
- Kay, E. W.;
- Hopkins, A. M.;
- Gallagher, W. M.;
- Dervan, P. A.
Publication type:
Article
DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 448, doi. 10.1111/j.1399-0004.2007.00883.x
By:
- Acton, R. T.;
- Rivers, C. A.;
- Watson, B.;
- Oh, S. J.
Publication type:
Article
Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 460, doi. 10.1111/j.1399-0004.2007.00885.x
By:
- Roovere, T.;
- Peters, M.;
- Horelli-Kuitunen, N.;
- Mölter-Väär, T.;
- Punab, M.;
- Rootsi, S.;
- Poolamets, O.;
- Salumets, A.
Publication type:
Article
The role of common genetic risk variants in Parkinson disease.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 387, doi. 10.1111/j.1399-0004.2007.00890.x
By:
- Tan, E.-K.
Publication type:
Article
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 478, doi. 10.1111/j.1399-0004.2007.00891.x
By:
- Suphapeetiporn, K.;
- Tongkobpetch, S.;
- Siriwan, P.;
- Shotelersuk, V.
Publication type:
Article
Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: motivational factors and psychosocial functioning.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 394, doi. 10.1111/j.1399-0004.2007.00893.x
By:
- Esplen, M. J.;
- Madlensky, L.;
- Aronson, M.;
- Rothenmund, H.;
- Gallinger, S.;
- Butler, K.;
- Toner, B.;
- Wong, J.;
- Manno, M.;
- McLaughlin, J.
Publication type:
Article
Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 434, doi. 10.1111/j.1399-0004.2007.00894.x
By:
- Huang, X.-L.;
- Isabel de Michelena, M.;
- Leon, E.;
- Maher, T. A.;
- McClure, R.;
- Milunsky, A.
Publication type:
Article
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
Published in:
Clinical Genetics, 2007, v. 72, n. 5, p. 411, doi. 10.1111/j.1399-0004.2007.00896.x
By:
- Brunetti-Pierri, N.;
- Grange, D. K.;
- Ou, Z.;
- Peiffer, D. A.;
- Peacock, S. K. G.;
- Cooper, M. L.;
- Eng, P. A.;
- Lalani, S. R.;
- Chinault, A. C.;
- Gunderson, K. L.;
- Craigen, W. J.;
- Cheung, S.-W.
Publication type:
Article