about
Heterozygous mutations of OTX2 cause severe ocular malformationsFamilial syndromic esophageal atresia maps to 2p23-p24.The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/PDedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilitiesBrain shape in human microcephalics and Homo floresiensisGeneSeeker: extraction and integration of human disease-related information from web-based genetic databasesRole of SOX9 in the Etiology of Pierre-Robin SyndromeSatb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw developmentREPuter: the manifold applications of repeat analysis on a genomic scaleCopy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseA genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate riskGenetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.BMPR1B mutation causes Pierre Robin sequenceCongenital and idiopathic scoliosis: clinical and genetic aspects.Genome architecture catalyzes nonrecurrent chromosomal rearrangementsFamilial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32Genetics of clubfoot.Congenital heart disease and chromossomopathies detected by the karyotype.A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans.A locus for isolated cleft palate, located on human chromosome 2q32Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese populationGene/environment causes of cleft lip and/or palate.Disorders caused by chromosome abnormalities.Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations.Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationThe evolution of human genetic studies of cleft lip and cleft palate.Genomic disorders ten years on.Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association resultsCongenital scoliosis in monozygotic twins: case report and review of possible factors contributing to its developmentClinical significance of de novo and inherited copy-number variation.Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation.Sumoylation in Craniofacial Disorders.Chromosomes and clinical anatomy.Congenital Kyphoscoliosis in Monozygotic Twins: Ten-Year Follow-up Treated by Posterior Vertebral Column Resection (PVCR): A Case Report.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A chromosomal deletion map of human malformations.
@ast
A chromosomal deletion map of human malformations.
@en
A chromosomal deletion map of human malformations.
@nl
type
label
A chromosomal deletion map of human malformations.
@ast
A chromosomal deletion map of human malformations.
@en
A chromosomal deletion map of human malformations.
@nl
prefLabel
A chromosomal deletion map of human malformations.
@ast
A chromosomal deletion map of human malformations.
@en
A chromosomal deletion map of human malformations.
@nl
P2093
P2860
P356
P1476
A chromosomal deletion map of human malformations
@en
P2093
Holloway S
Schinzel A
Zawalnyski P
P2860
P304
P356
10.1086/302041
P407
P577
1998-10-01T00:00:00Z