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The new Ghent criteria for Marfan syndrome: what do they change?
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- Clinical Genetics, 2012, v. 81, n. 5, p. 433, doi. 10.1111/j.1399-0004.2011.01703.x
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- Article
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
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- Clinical Genetics, 2008, v. 74, n. 2, p. 116, doi. 10.1111/j.1399-0004.2008.01005.x
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- Article
Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.
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- Acta Paediatrica, 1994, v. 83, n. s399, p. 112, doi. 10.1111/j.1651-2227.1994.tb13302.x
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- Article
Genetic heterogeneity in Laron syndrome.
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- Acta Paediatrica, 1993, v. 82, n. s392, p. 3, doi. 10.1111/j.1651-2227.1993.tb12916.x
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- Article
Regional assignments of three polymorphic DNA segments on human chromosome 15.
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- Genetic Epidemiology, 1986, v. 3, n. 4, p. 231, doi. 10.1002/gepi.1370030404
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- Article
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors.
- Published in:
- Nature, 1986, v. 323, n. 6085, p. 226, doi. 10.1038/323226a0
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- Article
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
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- Cytogenetic & Genome Research, 1999, v. 86, n. 3/4, p. 296, doi. 10.1159/000015322
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- Article
TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog.
- Published in:
- Cytogenetic & Genome Research, 1999, v. 86, n. 3/4, p. 277, doi. 10.1159/000015319
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- Article
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.
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- Cytogenetic & Genome Research, 1998, v. 82, n. 3/4, p. 238, doi. 10.1159/000015110
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- Article
Expression of human Wiskott–Aldrich syndrome protein in patients’ cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins.
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- Gene Therapy, 2000, v. 7, n. 4, p. 314, doi. 10.1038/sj.gt.3301085
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- Article
TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 86, n. 3/4, p. 277, doi. 10.1159/000015319
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- Publication type:
- Article
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 86, n. 3/4, p. 296, doi. 10.1159/000015322
- By:
- Publication type:
- Article
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.
- Published in:
- Cytogenetics & Cell Genetics, 1998, v. 82, n. 3/4, p. 238, doi. 10.1159/000015110
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- Publication type:
- Article
Molecular Diagnosis and Endocrine Evaluation of a Patient with a Homozygous 7.0 kb Deletion of the Growth Hormone (GH) Gene Cluster: Response to Biosynthetic GH Therapy.
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- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 2, p. 185, doi. 10.1515/jpem.1997.10.2.185
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- Article
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2135
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- Article
The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1829
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- Article