37 results on '"Stankiewicz, Pawel"'
Search Results
2. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
3. An estimation of the prevalence of genomic disorders using chromosomal microarray data
4. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing
5. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
6. Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
7. Assessing structural variation in a personal genome—towards a human reference diploid genome
8. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
9. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
10. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
11. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
12. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
13. Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay
14. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human
15. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
16. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
17. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders
18. Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
19. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
20. Head Bobber: An Insertional Mutation Causes Inner Ear Defects, Hyperactive Circling, and Deafness
21. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44
22. The phenotype of recurrent 10q22q23 deletions and duplications
23. Phenotypic manifestations of copy number variation in chromosome 16p13.11
24. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
25. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH
26. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
27. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
28. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
29. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
30. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder
31. Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss
32. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
33. Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement
34. Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)
35. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
36. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p
37. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
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