253 results on '"Buiting K"'
Search Results
2. Molekulargenetische Diagnostik von Imprintingerkrankungen: Relevanz von Multilocusmethylierungsdefekten
3. Prader-Willi-Syndrom und Angelman-Syndrom
4. Mikrodeletionssyndrom 9q34 – ein charakteristischer Phänotyp
5. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
6. Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver–Russell syndrome features
7. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
8. Imprinting-mutation mechanisms in Prader-Willi syndrome
9. Malignes Melanom und Beckwith-Wiedemann-Syndrom: Zufall oder Zusammenhang?: FV11/04
10. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome
11. Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element
12. Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment
13. Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling
14. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
15. Molecular and clinical studies in 8 patients with Temple syndrome
16. A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
17. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
18. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome
19. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
20. Identification of imprinted, tissue-specific C/D box small nucleolar RNA genes in the Prader-Willi syndrome region
21. Gene conversion in the 15q imprinting center: Molecular evidence for homologous association of imprinted chromosomal domains
22. Angelman Syndrome Caused by a Paternal Uniparental Disomy (UPD) 15 in a 2-Year-Old Boy of a Mother with a Robertsonian Translocation 14;15
23. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic sperm injection
24. The C15orf2 gene in the Prader-Willi Syndrome region is subject to genomic imprinting and positive selection.
25. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome
26. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
27. Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver–Russell syndrome features
28. Silver-Russell Syndrom-Stufen der molekulargenetischen Diagnostik
29. First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
30. Molecular and Clinical Aspects of Angelman Syndrome
31. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
32. Malignant Melanoma and Wiedemann-Beckwith Syndrome in Childhood
33. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
34. Imprinting of RB1 (the new kid on the block)
35. Slow Progression of a Small Wilms’ Tumor
36. A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
37. The IC-SNURF–SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
38. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
39. Imprinting defects on human chromosome 15
40. Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation
41. The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11→q13
42. Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
43. Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method
44. The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15
45. Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
46. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
47. A pseudogene for the human ribosomal protein L5 (RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15
48. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis
49. A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.
50. Molecular and Clinical Aspects of Angelman Syndrome.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.