Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
about
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new familiesClinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic herniaSequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaArray based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delayGenetic aspects of human congenital diaphragmatic hernia.Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.Review of genetic factors in intestinal malrotation.Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Genomic profile of copy number variants on the short arm of human chromosome 8.Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaGenetic factors in congenital diaphragmatic hernia.Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.Molecular genetics of congenital diaphragmatic defects.Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia.Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and geneticsDe novo copy number variants are associated with congenital diaphragmatic hernia.Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.Decreased expression of GATA4 in the diaphragm of nitrofen-induced congenital diaphragmatic hernia.Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings.Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism.Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.Prenatal and postnatal findings in five cases of Fryns syndrome
P2860
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P2860
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@ast
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@en
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@nl
type
label
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@ast
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@en
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@nl
prefLabel
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@ast
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@en
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@nl
P2093
P356
P1476
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
@en
P2093
A Slavotinek
D Albertson
K A Leppig
P356
10.1136/JMG.2004.028787
P407
P577
2005-09-01T00:00:00Z