Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
about
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresMultiple forms of atypical rearrangements generating supernumerary derivative chromosome 15Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbGenetics of Prader-Willi syndrome and Prader-Will-Like syndromeFunctional characterization of the human mariner transposon Hsmar2Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicineDetailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionFamilial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.The mechanisms involved in formation of deletions and duplications of 15q11-q13.High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageChromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.Prader-Willi Syndrome: Obesity due to Genomic Imprinting.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.The phenotype of recurrent 10q22q23 deletions and duplications.Systematic review of the clinical and genetic aspects of Prader-Willi syndrome.Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis.Localization of mariner DNA transposons in the human genome by PRINSCoding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15qMethylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese populationMicroarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsBehavioral profile of adults with Prader-Willi syndrome: correlations with individual and environmental variables.Prader-Willi Syndrome: Clinical and Genetic FindingsMolecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexityAngelman syndrome associated with an inversion of chromosome 15q11.2q24.3.Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.Prader-Willi syndrome.Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
P2860
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P2860
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Molecular characterization of ...... nd Angelman syndrome patients.
@ast
Molecular characterization of ...... nd Angelman syndrome patients.
@en
type
label
Molecular characterization of ...... nd Angelman syndrome patients.
@ast
Molecular characterization of ...... nd Angelman syndrome patients.
@en
prefLabel
Molecular characterization of ...... nd Angelman syndrome patients.
@ast
Molecular characterization of ...... nd Angelman syndrome patients.
@en
P2093
P2860
P1476
Molecular characterization of ...... nd Angelman syndrome patients.
@en
P2093
Chakravarti A
Christian SL
Ledbetter DH
Mutirangura A
Robinson WP
P2860
P407
P577
1995-07-01T00:00:00Z