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1. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

2. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

3. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

4. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

6. Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

7. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

8. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

9. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

10. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

11. Novel genetic causes for cerebral visual impairment.

12. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

13. Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

14. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

15. Variants in CUL4B are associated with cerebral malformations.

16. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

17. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

18. Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

19. The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.

20. Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

21. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

22. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

23. A cytogenetic study in a large population of intellectually disabled Indonesians.

24. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

25. Update on Kleefstra Syndrome.

26. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.

27. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

28. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

29. Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

30. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

31. Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.

32. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

33. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

34. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

35. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

36. Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.

37. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

38. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

39. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

40. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

41. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

42. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

43. Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.

44. Diagnostic genome profiling in mental retardation.

45. Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

46. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

47. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

50. Spontaneous and mitogen-induced activity of lymphocytes of different density in multiple sclerosis.

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