A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceThe many faces of KIF7Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.Genomic variants and variations in malformations of cortical development.Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utilityAn XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeBest diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis.Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.Consanguinity as an Adjunct Diagnostic Tool.Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.Severe fetal ischaemic brain injury caused by homozygous protein C deficiency.Desmosterolosis presenting with multiple congenital anomalies.Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.
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P2860
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 25 October 2012
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A clinical evaluation tool for ...... ing of consanguineous parents.
@en
A clinical evaluation tool for ...... ing of consanguineous parents.
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type
label
A clinical evaluation tool for ...... ing of consanguineous parents.
@en
A clinical evaluation tool for ...... ing of consanguineous parents.
@nl
prefLabel
A clinical evaluation tool for ...... ing of consanguineous parents.
@en
A clinical evaluation tool for ...... ing of consanguineous parents.
@nl
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A clinical evaluation tool for ...... ring of consanguineous parents
@en
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John J Mulvihill
Klaas J Wierenga
Nicholas F Tsinoremas
Zhijie Jiang
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P2888
P304
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10.1038/GIM.2012.136
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P50
P577
2012-10-25T00:00:00Z