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WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 182, doi. 10.1111/cge.12730
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- 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
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- Article
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 131, doi. 10.1034/j.1399-0004.2001.590212.x
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- Article
Ectodermal dysplasias: not only ‘skin’ deep.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 415, doi. 10.1034/j.1399-0004.2000.580601.x
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- Article
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.
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- European Journal of Neurology, 2008, v. 15, n. 5, p. 520, doi. 10.1111/j.1468-1331.2008.02117.x
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- Article
The Osteopontin Gene +1239A/C Single Nucleotide Polymorphism is Associated with Type 1 Diabetes Mellitus in the Italian Population.
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- International Journal of Immunopathology & Pharmacology, 2010, v. 23, n. 1, p. 263, doi. 10.1177/039463201002300124
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- Article
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis.
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- Diabetic Medicine, 2010, v. 27, n. 10, p. 1195, doi. 10.1111/j.1464-5491.2010.03046.x
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- Article
Involvement of the Hypothalamic-Pituitary-Adrenal Axis in Children with Oligoarticular-Onset Idiopathic Arthritis.
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- Annals of the New York Academy of Sciences, 2002, v. 966, n. 1, p. 369, doi. 10.1111/j.1749-6632.2002.tb04237.x
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- Article
Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects.
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- Internal Medicine Journal, 2009, v. 39, n. 5, p. 335, doi. 10.1111/j.1445-5994.2009.01907.x
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- Article
Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 895, doi. 10.1038/sj.ejhg.5200533
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- Article
D002: 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphism and early organ damage in essential hypertension.
- Published in:
- American Journal of Hypertension, 2000, v. 13, p. 73A, doi. 10.1016/S0895-7061(00)00840-2
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- Article
Assignment 1 of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4--A5 by in situ hybridization.
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- Cytogenetics & Cell Genetics, 2001, v. 92, n. 3/4, p. 354, doi. 10.1159/000056931
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- Article
Haplotypes of the Human RET Proto-oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of Alleles.
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- Annals of Human Genetics, 2006, v. 70, n. 1, p. 12, doi. 10.1111/j.1529-8817.2005.00196.x
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- Article
Haemolytic Effect of Two Sulphonamides Evaluated by a New Method.
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- British Journal of Haematology, 1976, v. 32, n. 2, p. 183, doi. 10.1111/j.1365-2141.1976.tb00921.x
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- Article
Intron 16 insertion of the angiotensin converting enzyme gene and transcriptional regulation.
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- Nephrology Dialysis Transplantation, 1999, v. 14, n. 4, p. 868, doi. 10.1093/ndt/14.4.868
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- Article
Cell-specific regulation of α1(III) and α2(V) collagen by TGF-β1 in tubulointerstitial cell models.
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- Nephrology Dialysis Transplantation, 1998, v. 13, n. 3, p. 573, doi. 10.1093/ndt/13.3.573
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- Article
Genetic polymorphism of the renin-angiotensin-aldosterone system (RAAS) and organ damage (TOD) in essential hypertension (EH).
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- American Journal of Hypertension, 1999, v. 12, p. 6A, doi. 10.1016/S0895-7061(99)80024-7
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- Article
G6PD Napoli and Ferrara II: Two New Glucose-6-Phosphate Dehydrogenase Variants having Similar Characteristics but Different Intracellular Lability and Specific Activity.
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- British Journal of Haematology, 1981, v. 48, n. 3, p. 417, doi. 10.1111/j.1365-2141.1981.tb02733.x
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- Article