Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia
about
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersPalindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instabilityGenomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaRibosomal protein gene deletions in Diamond-Blackfan anemia.The genetics of microdeletion and microduplication syndromes: an update.Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disabilityDe novo copy number variants are associated with congenital diaphragmatic hernia.High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia.Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.Chromosome 5q33 deletions associated with congenital heart defects.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review
P2860
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P2860
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia
description
2010 nî lūn-bûn
@nan
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
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2010年论文
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name
Recurrent microdeletions of 15 ...... ibly Diamond--Blackfan anaemia
@ast
Recurrent microdeletions of 15 ...... ibly Diamond--Blackfan anaemia
@en
type
label
Recurrent microdeletions of 15 ...... ibly Diamond--Blackfan anaemia
@ast
Recurrent microdeletions of 15 ...... ibly Diamond--Blackfan anaemia
@en
prefLabel
Recurrent microdeletions of 15 ...... ibly Diamond--Blackfan anaemia
@ast
Recurrent microdeletions of 15 ...... ibly Diamond--Blackfan anaemia
@en
P2093
P2860
P356
P1476
Recurrent microdeletions of 15 ...... ibly Diamond--Blackfan anaemia
@en
P2093
Chester Brown
Daryl A Scott
Debra Freedenberg
Elizabeth R Roeder
Margaret J Wat
Patricia Bader
Pawel Stankiewicz
Sau-Wai Cheung
Trevor Resnick
Victoria B Enciso
P2860
P304
P356
10.1136/JMG.2009.075903
P407
P577
2010-10-04T00:00:00Z