Copy-number variations, noncoding sequences, and human phenotypes

Annual Review of Genomics and Human Genetics

Volumn 12, Issue , 2011, Pages 53-72

  Klopocki, Eva ^a,b   Mundlos, Stefan ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

CNVs; Enhancer; Highly conserved noncoding elements (HCNEs); Long range regulation

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; CHORDIN; HOMEODOMAIN PROTEIN; HOX PROTEIN; METHYL CPG BINDING PROTEIN 2; NOGGIN; NUCLEAR RECEPTOR DAX 1; PROTEOLIPID PROTEIN; SMAD PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI3; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX9; UNTRANSLATED RNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ANIRIDIA; BONE DEVELOPMENT; BONE DYSPLASIA; BRACHYDACTYLY; CAMPOMELIC DYSPLASIA; CARTILAGE CELL; CELL DIFFERENTIATION; CELL PROLIFERATION; CHONDRODYSPLASIA; CHONDROGENESIS; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOME; CHROMOSOME 2Q; CHROMOSOME ABERRATION; COPY NUMBER VARIATION; CRANIOFACIAL SYNOSTOSIS; DIENCEPHALON; DNA METHYLATION; DNA MODIFICATION; DYSCHONDROSTEOSIS; EPIGENETICS; GENE CLUSTER; GENE CONTROL; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENE SILENCING; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOME; HOLOPROSENCEPHALY; HOMOLOGOUS RECOMBINATION; HUMAN; IN VIVO STUDY; KARYOTYPE 46,XY; LIMB MALFORMATION; LOSS OF FUNCTION MUTATION; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOUSE MUTANT; NONCODING SEQUENCE; NONHUMAN; OSSIFICATION; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PIERRE ROBIN SYNDROME; POINT MUTATION; POLYDACTYLY; POLYMERASE CHAIN REACTION; RADIUS APLASIA; REVIEW; SERTOLI CELL; SEX DETERMINATION; SEX TRANSFORMATION; SHORT STATURE; SPASTIC PARAPLEGIA; SYNDACTYLY; SYNOSTOSIS; TELENCEPHALON; THROMBOCYTOPENIA; TURNER SYNDROME; UPREGULATION; WERNER SYNDROME;

ANIMALS; DISEASE; DNA COPY NUMBER VARIATIONS; GENE DOSAGE; GENE EXPRESSION REGULATION; HUMANS; REGULATORY ELEMENTS, TRANSCRIPTIONAL;

EID: 80052729161     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-082410-101404     Document Type: Review

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