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- W2074994540 abstract "Array-CGH has revealed a large number of copy number variations (CNVs) in patients with multiple congenital anomalies and/or mental retardation (MCA/MR). According to criteria recently listed, pathogenicity was clearly suspected for some CNVs but benign CNVs, considered as polymorphisms, have complicated the interpretation of the results. In this study, genomic DNAs from 132 French patients with unexplained mental retardation were analysed by genome wide high-resolution Agilent 44K oligonucleotide arrays. The results were in accordance with those observed in previous studies: the detection rate of pathogenic CNVs was 14.4%. A non-random involvement of several chromosomal regions was observed. Some of the microimbalances recurrently involved regions (1q21.1, 2q23.1, 2q32q33, 7p13, 17p13.3, 17p11.2, 17q21.31) corresponding to known or novel syndromes. For all the pathogenic CNVs, further cases are needed to allow more accurate genotype-phenotype correlations underscoring the importance of databases to group patients with similar molecular data." @default.
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- W2074994540 date "2010-03-01" @default.
- W2074994540 modified "2023-10-16" @default.
- W2074994540 title "Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series" @default.
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- W2074994540 cites W1965381538 @default.
- W2074994540 cites W1968140797 @default.
- W2074994540 cites W1972024992 @default.
- W2074994540 cites W1981784854 @default.
- W2074994540 cites W1986002337 @default.
- W2074994540 cites W1986668648 @default.
- W2074994540 cites W1988356057 @default.
- W2074994540 cites W1989884775 @default.
- W2074994540 cites W1991157854 @default.
- W2074994540 cites W1992981977 @default.
- W2074994540 cites W1993997264 @default.
- W2074994540 cites W1995338672 @default.
- W2074994540 cites W2000971189 @default.
- W2074994540 cites W2010746841 @default.
- W2074994540 cites W2013400212 @default.
- W2074994540 cites W2016844246 @default.
- W2074994540 cites W2021920872 @default.
- W2074994540 cites W2022814598 @default.
- W2074994540 cites W2026567143 @default.
- W2074994540 cites W2035548935 @default.
- W2074994540 cites W2037213360 @default.
- W2074994540 cites W2040159957 @default.
- W2074994540 cites W2043289157 @default.
- W2074994540 cites W2043926603 @default.
- W2074994540 cites W2050950024 @default.
- W2074994540 cites W2053290166 @default.
- W2074994540 cites W2057126702 @default.
- W2074994540 cites W2062413436 @default.
- W2074994540 cites W2062625389 @default.
- W2074994540 cites W2063065808 @default.
- W2074994540 cites W2063739474 @default.
- W2074994540 cites W2067344359 @default.
- W2074994540 cites W2069797581 @default.
- W2074994540 cites W2072206781 @default.
- W2074994540 cites W2075303273 @default.
- W2074994540 cites W2077016335 @default.
- W2074994540 cites W2082634243 @default.
- W2074994540 cites W2083312326 @default.
- W2074994540 cites W2084258753 @default.
- W2074994540 cites W2091838781 @default.
- W2074994540 cites W2096997450 @default.
- W2074994540 cites W2098380802 @default.
- W2074994540 cites W2101375380 @default.
- W2074994540 cites W2101446132 @default.
- W2074994540 cites W2102138832 @default.
- W2074994540 cites W2103909641 @default.
- W2074994540 cites W2108637300 @default.
- W2074994540 cites W2110793364 @default.
- W2074994540 cites W2111453238 @default.
- W2074994540 cites W2121699212 @default.
- W2074994540 cites W2123607569 @default.
- W2074994540 cites W2130407782 @default.
- W2074994540 cites W2132029451 @default.
- W2074994540 cites W2141564936 @default.
- W2074994540 cites W2151390720 @default.
- W2074994540 cites W2153207985 @default.
- W2074994540 cites W2153572594 @default.
- W2074994540 cites W2155677754 @default.
- W2074994540 cites W2161409513 @default.
- W2074994540 cites W2167167845 @default.
- W2074994540 cites W2170305147 @default.
- W2074994540 cites W2272864623 @default.
- W2074994540 doi "https://doi.org/10.1016/j.ejmg.2009.10.002" @default.
- W2074994540 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19878743" @default.
- W2074994540 hasPublicationYear "2010" @default.
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