Private inherited microdeletion/microduplications: implications in clinical practice.
about
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal casesClinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.Epilepsy and the new cytogenetics.Chromosome abnormalities and the genetics of congenital corneal opacification.A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnosticsArray comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbiditiesGenotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress.A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.Clinical interpretation of copy number variants in the human genome.Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.The introduction of arrays in prenatal diagnosis: a special challenge.Recurrent duplications of 17q12 associated with variable phenotypes.Complex autism spectrum disorder in a patient with a 17q12 microduplicationDoes the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature
P2860
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P2860
Private inherited microdeletion/microduplications: implications in clinical practice.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Private inherited microdeletion/microduplications: implications in clinical practice.
@en
Private inherited microdeletion/microduplications: implications in clinical practice.
@nl
type
label
Private inherited microdeletion/microduplications: implications in clinical practice.
@en
Private inherited microdeletion/microduplications: implications in clinical practice.
@nl
prefLabel
Private inherited microdeletion/microduplications: implications in clinical practice.
@en
Private inherited microdeletion/microduplications: implications in clinical practice.
@nl
P2093
P50
P1476
Private inherited microdeletion/microduplications: implications in clinical practice
@en
P2093
Eleni Katzaki
Filomena Tiziana Papa
Ilaria Longo
Katia Sampieri
Maria Antonietta Mencarelli
Marzia Pollazzon
Paolo Balestri
Roberto Canitano
Rosa Mostardini
Rossella Caselli
P304
P356
10.1016/J.EJMG.2008.06.003
P577
2008-07-09T00:00:00Z