15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
about
Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthA case of de novo duplication of 15q24-q26.3.A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disabilityApproach to the Diagnosis of Overgrowth Syndromes.Subtelomeric microduplications in three sisters with moderate mental retardation.Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.Characterization of a balanced complex chromosomal rearrangement carrier ascertained through a fetus with dup15q26.3 and del5p15.33: case report.Molecular mechanisms of childhood overgrowth.Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?Germline mosacism in Shprintzen-Goldberg syndromePartial monosomy of 10p and duplication of another chromosome in two patients
P2860
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P2860
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
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2009年學術文章
@zh-hant
name
15q overgrowth syndrome: a new ...... sage of distal chromosome 15q.
@en
15q overgrowth syndrome: a new ...... sage of distal chromosome 15q.
@nl
type
label
15q overgrowth syndrome: a new ...... sage of distal chromosome 15q.
@en
15q overgrowth syndrome: a new ...... sage of distal chromosome 15q.
@nl
prefLabel
15q overgrowth syndrome: a new ...... sage of distal chromosome 15q.
@en
15q overgrowth syndrome: a new ...... sage of distal chromosome 15q.
@nl
P2093
P356
P1476
15q overgrowth syndrome: a new ...... sage of distal chromosome 15q.
@en
P2093
Christa Lese-Martin
Daniela T Pilz
Eli Ormerod
John A Crolla
John C K Barber
Karen Helene Orstavik
Karen Marks
Katrina Tatton-Brown
Meriel McEntagart
Michael Patton
P304
P356
10.1002/AJMG.A.32534
P407
P577
2009-02-01T00:00:00Z