106 results on '"Passos‐Bueno, M.R."'
Search Results
2. Craniosynostosis and Chromosomal Alterations
3. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
4. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson x-linked recessive mental retardation syndrome
5. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
6. Decreased celluar uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter
7. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)
8. Null allele in human polymorphism restricted to the placenta: call for a search
9. Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?
10. Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum
11. Null Allele in a Human Polymorphism Restricted to the Placenta: Call for a Search
12. MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach
13. Global Analysis of Gene Expression in Inherited Human Craniosinostosis
14. Six novel point mutations in the Dystrophin gene identified in Brazilian Duchenne patients
15. Sarcomeric proteins and Neuromuscular disorders
16. Novel Dysferlin Mutations in Brazilian LGMD2B Patients
17. Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advance parental age
18. Evidence for association of the BCL3 gene in 98 Brazilian nonsyndromic clefting patients using the transmission disequilibrium test (TDT)
19. A new form of Autosomal Dominant late onset Spinal Muscular Atrophy
20. Evidence of further genetic heterogeneity for both autosomal dominant and autosomal recessive limb-girdle muscular dystrophy
21. The effect of telethonin deficiency in LGMD-2G and its expression in other forms of muscular dystrophi and congenital myopathies.es
22. Linkage analysis in a large Brazilian family maps a gene for autosomal recessive (AR) craniometaphyseal dysplasia to chromosome 6q and confirms genetic heterogeneity for AR spondylocostal dysplasia
23. RECURRENT LGMD2A (CALPAINOPATHY) MUTATIONS IN BRAZILIAN PATIENTS
24. Collagen XVIII, containing an endogenous inhibitor of angiogenesis, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
25. A review of craniofacial disorders caused by spliceosomal defects
26. Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.
27. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
28. Genetic study by Multiplex Ligation-dependent Probe Amplification (MLPA) in synaptic genes in autism spectrum disorders
29. A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
30. Corrigendum to “HTR1B and HTR2C in Autism Spectrum Disorder in Brazilian families” [Brain Res. 1250 (2009) 14–19]
31. Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry
32. [288] THE LIVER-SPECIFIC PROMOTER OF COLLAGEN XVIII IS A FUNCTIONAL TARGET OF THE C/EBPB TRANSCRIPTION FACTOR IN HUMAN LIVER
33. Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients
34. Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
35. Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families
36. Further evidence for a fourth gene causing X-linked pure spastic paraplegia
37. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
38. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin
39. Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients
40. Clinical spectrum of fibroblast growth factor receptor mutations
41. Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization
42. 5-33-05 Correlation of DNA expansion and systemic manifestations in myotonic dystrophy
43. The use of apolipoprotein E genotype for preclinical detection of risk's group for Alzheimer's disease
44. 643 Familial spongiform encephalopathy with distinct clinico-pathological features associated with a novel mutation of the prion protein gene
45. Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy
46. Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy
47. Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families
48. Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
49. Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein
50. Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages
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