about
Identification of novel NPRAP/δ-catenin-interacting proteins and the direct association of NPRAP with dynamin 2Cadherins and catenins at synapses: roles in synaptogenesis and synaptic plasticity5p deletions: Current knowledge and future directions.CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.Neoplasia in Cri du Chat Syndrome from Italian and German Databases.Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.Cri-du-chat syndromeCongenital vertical talus in Cri du Chat Syndrome: a case reportA familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infantCri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.Telomere dysfunction in human diseases: the long and short of it!Determination of periodontopathogens in patients with Cri du chat syndromeDelta-catenin regulates spine and synapse morphogenesis and function in hippocampal neurons during developmentAnesthetic experience of a patient with cri du chat syndrome.Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.Functional roles of p120ctn family of proteins in central neurons.[The Cri du Chat syndrome: report of an observation].The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns.Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions.A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods.Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Cri du Chat syndrome
@ast
Cri du Chat syndrome
@en
Cri du Chat syndrome
@en-gb
Cri du Chat syndrome
@nl
type
label
Cri du Chat syndrome
@ast
Cri du Chat syndrome
@en
Cri du Chat syndrome
@en-gb
Cri du Chat syndrome
@nl
prefLabel
Cri du Chat syndrome
@ast
Cri du Chat syndrome
@en
Cri du Chat syndrome
@en-gb
Cri du Chat syndrome
@nl
P2860
P921
P3181
P356
P1476
Cri du Chat syndrome
@en
P2093
Paola Cerruti Mainardi
P2860
P2888
P3181
P356
10.1186/1750-1172-1-33
P407
P5008
P577
2006-09-05T00:00:00Z
P5875
P6179
1043680789