Results 121 to 130 of about 10,792 (169)

Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes. [PDF]

Front Pediatr
Zhao Q, Wang S, Wang Y, Ding S.
europepmc   +1 more source

Screening of CGG Trinucleotide Repeats Within <i>FMR1</i> Gene in Bangladeshi Children With Autism Spectrum Disorder: Exploring a Possible Link With Fragile X Syndrome. [PDF]

J Korean Acad Child Adolesc Psychiatry
Noman AA, Saba AA, Adiba M, Rahman M, Sayem M, Nabi AHMN, Yasmin T.   +6 more
europepmc   +1 more source

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Trinucleotide repeat expansion and human disease

Electrophoresis, 1995
AbstractTrinucleotide repeat expansions have been identified as the underlying mutation in an increasing number of human genetic diseases, such as fragile site syndromes, myotonic dystrophy and several neurodegenerative disorders including Huntington's disease.
H Lehrach
exaly   +8 more sources

A CAG trinucleotide repeat expansion and familial schizophrenia

Psychiatry Research, 2000
Studies which showed anticipation in families with schizophrenia suggested that a trinucleotide repeat expansion mechanism may be involved in the pathogenesis of familial schizophrenia. Furthermore, some studies involving the repeat expansion detection (RED) method showed the median length of CAG repeats to be longer in probands with schizophrenia than
Shoji Tsuji, Takeshi Ikeuchi, Koichi Ohara   +2 more
exaly   +3 more sources

[Expansion of trinucleotide repeats].

Molekuliarnaia biologiia, 2001
This review describes a novel type of genome instability, expansion of trinucleotide repeats. Originally discovered in 1991 upon cloning the gene responsible for the fragile X syndrome, it appeared to be a general phenomenon responsible for a growing number of human neurological disorders.
E Iu, Siianova, S M, Mirkin
openaire   +3 more sources

Trinucleotide Repeat Expansion and Neuropsychiatric Disease

Archives of General Psychiatry, 1999
Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and
R L, Margolis, M G, McInnis, A, Rosenblatt, C A, Ross   +3 more
openaire   +2 more sources

Myotonic dystrophy with no trinucleotide repeat expansion

Annals of Neurology, 1994
AbstractWe report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle ...
C A, Thornton, R C, Griggs, R T, Moxley
openaire   +2 more sources

Trinucleotide repeat expansions in neurological disease

Current Opinion in Neurobiology, 1993
During the past year, new examples of human neurological disease have been discovered that have an unprecedented type of mutation as their cause: the remarkable expansion of trinucleotide repeats. These triplet repeats are normally polymorphic and exonic, though not always coding.
S T, Warren, D L, Nelson
openaire   +2 more sources