22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
about
MAP'ing CNS development and cognition: an ERKsome process22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and ReviewWhat Is New in Genetics of Congenital Heart Defects?A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHMouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest developmentThe 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function.Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewConstitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.Monogenic and chromosomal causes of isolated speech and language impairment.Fast detection of de novo copy number variants from SNP arrays for case-parent trios.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesMeeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?A single cell level based method for copy number variation analysis by low coverage massively parallel sequencingIntegration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.Rare copy number variants are a common cause of short stature.Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCRThe phenotype of recurrent 10q22q23 deletions and duplications.Disorders caused by chromosome abnormalities.Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.Phenotype mining in CNV carriers from a population cohort.De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaBehavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.Human gene copy number spectra analysis in congenital heart malformationsCopy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarrayMechanisms for human genomic rearrangementsIdentification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.Population analysis of large copy number variants and hotspots of human genetic disease.Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Genomic disorders ten years on.Inverted duplications on acentric markers: mechanism of formation.Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
P2860
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P2860
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@ast
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@en
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@nl
type
label
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@ast
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@en
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@nl
prefLabel
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@ast
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@en
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@nl
P2093
P2860
P50
P1476
22q11.2 distal deletion: a rec ...... and velocardiofacial syndrome.
@en
P2093
A Craig Chinault
Ankita Patel
James R Lupski
Jonathan Berg
Marybeth Hummel
Nicole Tartaglia
Sau W Cheung
Seema R Lalani
Shay Ben-Shachar
Stephen Amato
P2860
P304
P356
10.1016/J.AJHG.2007.09.014
P407
P577
2008-01-01T00:00:00Z