TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
about
The genetic landscape and clinical implications of vertebral anomalies in VACTERL associationThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesStructural variation mutagenesis of the human genome: Impact on disease and evolution.Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski SyndromesHomozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Chondrocyte-Specific Knockout of TSC-1 Leads to Congenital Spinal Deformity in Mice.Assessing structural variation in a personal genome-towards a human reference diploid genome.Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.Non-coding genetic variants in human disease.Osmotic and Heat Stress Effects on SegmentationMaternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationCRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling.Progress and perspective of TBX6 gene in congenital vertebral malformations.Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits.Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis.Progress and Application of CRISPR/Cas Technology in Biological and Biomedical Investigation.Clinical genomics: from a truly personal genome viewpoint.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Long non-coding RNA ATB promotes malignancy of esophageal squamous cell carcinoma by regulating miR-200b/Kindlin-2 axis.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.Cognitive phenotypes and genomic copy number variations.From genomic medicine to precision medicine: highlights of 2015.Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.Genomic disorders 20 years on-mechanisms for clinical manifestations.Notch Signaling in Development, Tissue Homeostasis, and Disease.Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.Response to Lefebvre et al.Scoliosis in China: History and Present Status.Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.Settling the score: variant prioritization and Mendelian disease.
P2860
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P2860
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին 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
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
@ast
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
@en
type
label
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
@ast
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
@en
prefLabel
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
@ast
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
@en
P2093
P2860
P50
P356
P1476
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
@en
P2093
H Al-Kateb
P2860
P304
P356
10.1056/NEJMOA1406829
P407
P577
2015-01-07T00:00:00Z