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X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.
X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosomeExpand
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We haveExpand
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actinExpand
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two withExpand
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Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). SixExpand
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Branchio‐oto‐renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
EYA1 mutations cause branchio‐oto‐renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements.Expand
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
BACKGROUND Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification ofExpand
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mentalExpand
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A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness
In 1960, progressive sensorineural deafness (McKu-sick 304700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree1 . More recently, it was shown that this originalExpand
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
OBJECTIVE. Our goal was to describe the neurologic and clinical features of affected males from families with X-linked patterns of severe mental retardation, hypotonia, recurrent respiratoryExpand
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