428 results on '"Buiting, Karin"'
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2. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
3. Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
4. Identification of a Silencing Element in the Human 15q11-q13 Imprinting Center by Using Transgenic Drosophila
5. Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations
6. Mosaicism and uniparental disomy in prenatal diagnosis
7. Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
8. Multilocus methylation defects in imprinting disorders
9. Molecular Genetic Findings in Prader-Willi Syndrome
10. Atypical Angelman Syndrome Due to a Mosaic Imprinting Defect: Case Reports and Review of the Literature
11. Prader-Willi-Syndrom und Angelman-Syndrom
12. Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome: Ein klinisches und molekulares Update
13. Maintenance of Imprinting and Nuclear Architecture in Cycling Cells
14. Cover
15. Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
16. Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
17. Molekulargenetische Diagnostik von Imprinting-Erkrankungen
18. Microdissection and Molecular Analysis of Proximal 15q
19. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect
20. Epigenetic germline mosaicism in infertile men
21. A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes
22. Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency
23. The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection
24. A familial disorder of altered DNA-methylation
25. Update of the EMQN / ACGS best practice Guidelines for Molecular Analysis of Prader-Willi and Angelman Syndromes
26. The maternal uniparental disomy of chromosome 6 (upd(6)mat) 'phenotype': result of placental trisomy 6 mosaicism?
27. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
28. The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
29. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect
30. The imprinted NPAP1/C15orf2 gene in the Prader–Willi syndrome region encodes a nuclear pore complex associated protein
31. Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization
32. Chapter 8 Genomic Imprinting and Imprinting Defects in Humans
33. Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14
34. Imprinting of RB1 (the new kid on the block)
35. A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
36. Imprinting in Prader-Willi and Angelman syndromes
37. Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete
38. Clinical Features of Maternal Uniparental Disomy 14 in Patients With an Epimutation and a Deletion of the Imprinted DLK1/GTL2 Gene Cluster†
39. Light optical precision measurements of the active and inactive Prader–Willi syndrome imprinted regions in human cell nuclei
40. Atypical Angelman Syndrome With Macrocephaly Due to a Familial Imprinting Center Deletion
41. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome
42. Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation-New MCA/MR syndrome in two affected sibs and a mildly affected mother?
43. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis
44. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
45. Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
46. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader–Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
47. The IC-SNURF–SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
48. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
49. Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A
50. Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
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