53 results on '"de Paepe, Anne"'
Search Results
2. Correction: Arterial tortuosity syndrome: 40 new families and literature review
3. Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views
4. BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
5. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
6. Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues
7. Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans
8. Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients
9. Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
10. Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
11. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
12. Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
13. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
14. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
15. Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
16. Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing
17. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
18. De relatie tussen genetisch onderzoek, psychologisch welbevinden en medisch handelen Een vragenlijststudie bij vrouwelijke en mannelijke presymptomatische dragers en niet-dragers van een BRCA-genmutatie
19. Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year
20. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
21. Reply to the letter to the editor by Marc Williams
22. Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
23. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
24. Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
25. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
26. Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
27. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
28. Joint position sense and vibratory perception sense in patients with Ehlers–Danlos syndrome type III (hypermobility type)
29. RNA pre-amplification enables large-scale RT-qPCR gene-expression studies on limiting sample amounts
30. CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23
31. A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3
32. New insights into the pathogenesis and treatment of arterial aneurysms and dissections
33. Erratum to: Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes
34. methBLAST and methPrimerDB: web-tools for PCR based methylation analysis
35. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
36. arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays
37. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
38. No evidence for involvement of SDHD in neuroblastoma pathogenesis
39. Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons
40. Gene-expression profiling reveals distinct expression patterns for Classic versus Variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma
41. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature
42. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
43. Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5′ end of the BRCA1 gene
44. Complex splicing pattern generates great diversity in human NF1 transcripts
45. Integration of suppression subtractive hybridization, laser capture microdissection and microarray analysis for identification of genes implicated in neuroblastoma pathogenesis
46. Quantification and normalization of gene expression using SYBR Green I real-time RT-PCR
47. Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV
48. Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV
49. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
50. Bruck syndrome: neonatal presentation and natural course in three patients
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