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Search Results to Sanaa Choufani

This is a "connection" page, showing the details of why an item matched the keywords from your search.


One or more keywords matched the following items that are connected to Choufani, Sanaa

Item TypeName
Concept Chromosomes, Human, X
Concept Chromosomes, Human, Y
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human
Concept Chromosome Breakage
Concept Physical Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosome Fragility
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 20
Concept Chromosomes, Human, Pair 4
Concept Chromosome Mapping
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosome Inversion
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 6
Concept Chromosome Breakpoints
Concept Chromosomes, Artificial, Bacterial
Concept Chromosome Disorders
Concept Chromosome Fragile Sites
Academic Article An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Academic Article Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Academic Article Growth regulation, imprinted genes, and chromosome 11p15.5.
Academic Article A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Academic Article Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.
Academic Article Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
Academic Article Beckwith-Wiedemann syndrome.
Academic Article Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.
Academic Article Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.
Academic Article Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Academic Article Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.
Academic Article Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
Academic Article Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray.
Academic Article Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Academic Article Molecular findings in Beckwith-Wiedemann syndrome.
Academic Article High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Academic Article TGF-ß/ß2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
Academic Article Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Academic Article Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.
Academic Article Human chromosome 7: DNA sequence and biology.
Academic Article Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Academic Article Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

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  • Chromosomes