Somatic mosaicism: implications for disease and transmission genetics
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Somatic mutations in disorders with disrupted brain connectivityMechanisms underlying structural variant formation in genomic disordersNew insights into the generation and role of de novo mutations in health and diseaseSomatically acquired structural genetic differences: a longitudinal study of elderly Danish twinsSomatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjectsMutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismBiological Processes Discovered by High-Throughput Sequencing.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsLarge Genomic Imbalances in Brugada Syndrome.Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationSomatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.L1-associated genomic regions are deleted in somatic cells of the healthy human brain.In Utero Exposure to Benzo[a]Pyrene Increases Mutation Burden in the Soma and Sperm of Adult Mice.Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.Lessons learned from additional research analyses of unsolved clinical exome cases.Contrasting mechanisms of de novo copy number mutagenesis suggest the existence of different classes of environmental copy number mutagens.High-Definition Medicine.Stalled replication forks generate a distinct mutational signature in yeast.Protective alleles and modifier variants in human health and disease.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.Clinical genomics: from a truly personal genome viewpoint.Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.Genetics meets pathology - an increasingly important relationship.Molecular diagnosis of autosomal dominant polycystic kidney disease.Polycystic Kidney Disease without an Apparent Family History.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.The cat in between: Nature, nurture, . . . neither!Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube.Genetics and epigenetics of autism: A Review.Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.Unique Molecular Regulation of Higher-Order Prefrontal Cortical Circuits: Insights into the Neurobiology of Schizophrenia.The impact of mosaicism in preimplantation genetic diagnosis (PGD): approaches to PGD for dominant disorders in couples without family history.Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.Somatic mosaicism: on the road to cancer.
P2860
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P2860
Somatic mosaicism: implications for disease and transmission genetics
description
2015 nî lūn-bûn
@nan
2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Somatic mosaicism: implications for disease and transmission genetics
@ast
Somatic mosaicism: implications for disease and transmission genetics
@en
Somatic mosaicism: implications for disease and transmission genetics
@nl
type
label
Somatic mosaicism: implications for disease and transmission genetics
@ast
Somatic mosaicism: implications for disease and transmission genetics
@en
Somatic mosaicism: implications for disease and transmission genetics
@nl
prefLabel
Somatic mosaicism: implications for disease and transmission genetics
@ast
Somatic mosaicism: implications for disease and transmission genetics
@en
Somatic mosaicism: implications for disease and transmission genetics
@nl
P2093
P2860
P3181
P1433
P1476
Somatic mosaicism: implications for disease and transmission genetics
@en
P2093
Chad A. Shaw
Ian M. Campbell
Pawel Stankiewicz
P2860
P304
P3181
P356
10.1016/J.TIG.2015.03.013
P407
P577
2015-07-01T00:00:00Z