Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sDetailed 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.Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.Masquerading repeats: paralogous pitfalls of the human genome.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Unequal meiotic crossover: a frequent cause of NF1 microdeletions.Disorders caused by chromosome abnormalities.Genome destabilization by homologous recombination in the germ lineDuplication hotspots, rare genomic disorders, and common disease.Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.GH/IGF-I axis in Prader-Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology.Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic-like syndrome?Calcium-Binding EGF-Like Domains20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb
P2860
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P2860
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Inter- and intrachromosomal re ...... ions in Prader-Willi syndrome.
@en
Inter- and intrachromosomal re ...... ions in Prader-Willi syndrome.
@nl
type
label
Inter- and intrachromosomal re ...... ions in Prader-Willi syndrome.
@en
Inter- and intrachromosomal re ...... ions in Prader-Willi syndrome.
@nl
prefLabel
Inter- and intrachromosomal re ...... ions in Prader-Willi syndrome.
@en
Inter- and intrachromosomal re ...... ions in Prader-Willi syndrome.
@nl
P2093
P2860
P356
P1476
Inter- and intrachromosomal re ...... ions in Prader-Willi syndrome.
@en
P2093
D H Ledbetter
K Kittikamron
L Beccaria
O Zuffardi
P2860
P304
P356
10.1086/513907
P407
P577
1997-07-01T00:00:00Z