Interstitial deletion of (17)(p11.2p11.2) in nine patients
about
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesClinical uses of melatonin in pediatricsA deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic diseaseAtp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondriaWHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myelomaMicroduplication and triplication of 22q11.2: a highly variable syndrome.A human transporter protein that mediates the final excretion step for toxic organic cationsFliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic developmentCTNS mutations in an American-based population of cystinosis patientsLow-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transferHaploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndromeThe human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseCytogenomic Aberrations in Congenital Cardiovascular MalformationsClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsRole of Nuclear Receptors in Central Nervous System Development and Associated DiseasesGenotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumSmith-Magenis syndromebeta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndromeRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersCharcot-Marie-Tooth disease: lessons in genetic mechanisms.Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.Chromosome subband 17p11.2 deletion: a minute deletion syndrome.Rai1 frees mice from the repression of active wake behaviors by light.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Life without double-headed non-muscle myosin II motor proteins.Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Genomics, intellectual disability, and autismMolecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Autism spectrum features in Smith-Magenis syndrome.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndromeLinkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.
P2860
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P2860
Interstitial deletion of (17)(p11.2p11.2) in nine patients
description
1986 nî lūn-bûn
@nan
1986 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@ast
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@en
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@nl
type
label
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@ast
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@en
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@nl
prefLabel
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@ast
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@en
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@nl
P2093
P356
P1476
Interstitial deletion of (17)(p11.2p11.2) in nine patients
@en
P2093
G Waldstein
J Macfarlane
J Robinson
L McGavran
P304
P356
10.1002/AJMG.1320240303
P407
P577
1986-07-01T00:00:00Z