منابع مشابه
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
A mildly dysmorphic, mentally retarded male with neurofibromatosis 1 (NF1) was found to have a de novo deletion of chromosome 17. The deletion occurred on the paternally derived chromosome 17 as shown by the absence of a D17S73 paternal allele. Densitometric analysis indicated that, in addition to the D17S73 locus, the patient has only one copy of four other adjacent loci. The deletion involved...
متن کاملDe novo paradigm: the ultimate answer to the paradox in mental retardation?
Almost 3% of the general population suffers from mental retardation (MR) which represents one of the most difficult challenges faced today by clinicians, geneticists as well as our social system (1). Apparently, large genetic contribution to the etiology of mental retardation presents a formidable puzzle. Unlike common physical disorders, mental retardation is associated with substantial reprod...
متن کاملDe novo mutations in epileptic encephalopathies
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n5 149) and Lennox–Gastaut syndrome (n5 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A l...
متن کاملDe novo mutations in epileptic encephalopathies
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n5 149) and Lennox–Gastaut syndrome (n5 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A l...
متن کاملDe novo KCNB1 mutations in epileptic encephalopathy.
OBJECTIVE Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism. METHODS We searched for de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known etiology to determine t...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2011
ISSN: 1474-760X
DOI: 10.1186/1465-6906-12-s1-i16