150 results on '"Cavalcanti, Denise P."'
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2. Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
3. CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
4. Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients
5. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
6. Identification of genomic imbalances in oral clefts
7. Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
8. Rare genetic diseases: update on diagnosis, treatment and online resources
9. Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome
10. Inflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development
11. Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015
12. Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders.
13. SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
14. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up
15. Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
16. Identification of CANT1 mutations in Desbuquois dysplasia
17. Non-immune hydrops fetalis: A prospective study of 53 cases
18. SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
19. Clinical epidemiology of skeletal dysplasias in South America
20. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
21. A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
22. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
23. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
24. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
25. Skeletal dysplasias in Latin America
26. Early exposure to yellow fever vaccine during pregnancy
27. Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A
28. Pathogenic variants in GNPTABand GNPTGencoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
29. In reply to “Short-rib syndrome Beemer-Langer type, a short history”
30. Possible association between Zika virus infection and microcephaly--Brazil, 2015
31. Novel and Recurrent Mutations in the FGFR3Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
32. CranFlow : An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies
33. Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
34. Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
35. New SHHand Known SIX3Variants in a Series of Latin American Patients with Holoprosencephaly
36. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]
37. LC/MS/MS measurement of glycosaminoglycans in amniotic fluid of a MPS VII fetus
38. Desbuquois dysplasia type II in a patient with a homozygous mutation inXYLT1and new unusual findings
39. Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
40. Identification of Novel and Recurrent RMRPVariants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome
41. Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
42. Novel and Recurrent Mutations in the <bold><italic>FGFR3 </italic></bold> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
43. <italic>CranFlow</italic>: An Application for Record‐Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
44. Introduction to the special issue on Clinical Genetics in Latin America
45. Homozygous deletion in MYL9expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome
46. Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis
47. Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
48. NEK1andDYNC2H1are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
49. Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
50. Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients
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