Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
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Mutations in the RNA granule component TDRD7 cause cataract and glaucomaZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).CNVs: harbingers of a rare variant revolution in psychiatric geneticsThe many faces of KIF7IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeAnimals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degenerationForecasting Ecological Genomics: High-Tech Animal Instrumentation Meets High-Throughput Sequencing.Genetics and genomic medicine in Saudi ArabiaCryptic distant relatives are common in both isolated and cosmopolitan genetic samplesGNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognitionA novel syndrome of lethal familial hyperekplexia associated with brain malformation.SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)Parente2: a fast and accurate method for detecting identity by descent.Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian FamiliesNonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeDiagnosis of bardet-biedl syndrome in consecutive pregnancies affected with echogenic kidneys and polydactyly in a consanguineous coupleHereditary pediatric cataract on the Arabian Peninsula.A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficienciesAutozygome decoded.Clinical laboratory implementation of cytogenomic microarrays.Discovery of rare homozygous mutations from studies of consanguineous pedigrees.Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.High resolution chromosomal microarray in undiagnosed neurological disorders.In search of triallelism in Bardet-Biedl syndromeFKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
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Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 2010
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
@en
Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
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type
label
Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
@en
Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
@nl
prefLabel
Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
@en
Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
@nl
P2860
P1433
P1476
Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
@en
P2860
P2888
P304
P356
10.1097/GIM.0B013E3181CEB95D
P407
P577
2010-04-01T00:00:00Z
P6179
1029862300