167 results on '"Puisac, Beatriz"'
Search Results
2. Espectro Cornelia de Lange
3. Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
4. Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
5. Quality of Life Evaluation Using the Kidslife Scale in Individuals with Cornelia de Lange Syndrome
6. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
7. Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
8. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
9. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
10. Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder
11. Heart disease characterization and myocardial strain analysis in patients with PACS1 Neurodevelopmental Disorder
12. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
13. Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
14. Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
15. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
16. New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
17. Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
18. Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
19. Special cases in Cornelia de Lange syndrome: The Spanish experience
20. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
21. High Rate of Autonomic Neuropathy in Cornelia De Lange Syndrome
22. Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway
23. Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria
24. Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome
25. Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity
26. Heterozygous de novo variants inCSNK1G1are associated with syndromic developmental delay and autism spectrum disorder
27. Mitochondrial HMG–CoA Synthase Deficiency
28. HMG–CoA Lyase Deficiency
29. Pathogenic variants inEP300andANKRD11in patients with phenotypes overlapping Cornelia de Lange syndrome
30. MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
31. Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
32. The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice
33. Ten Novel HMGCL Mutations in 24 Patients of Different Origin with 3-Hydroxy-3-Methyl-Glutaric Aciduria
34. Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha) 8 TIM Barrel model of HL
35. More than one HMG-CoA Lyase: The classical mitochondrial enzyme plus the peroxisomal and the cytosolic ones
36. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
37. MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL
38. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
39. Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.
40. Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients
41. Two-step ATP-driven opening of cohesin head
42. mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome
43. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
44. Identification and Functional Characterization of Two IntronicNIPBLMutations in Two Patients with Cornelia de Lange Syndrome
45. HMG–CoA Lyase Deficiency
46. De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
47. Clinical utility gene card for: Cornelia de Lange syndrome
48. Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome
49. A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
50. Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.