Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.
about
Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9pHeterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPADuplication 9p and their implication to phenotype.Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.7q36 deletion and 9p22 duplication: effects of a double imbalance.A Wt1-Dmrt1 transgene restores DMRT1 to sertoli cells of Dmrt1(-/-) testes: a novel model of DMRT1-deficient germ cellsGenetic analysis of non-syndromic craniosynostosis.Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.A case of 9p deletion syndrome with congenital infantile glaucoma, effective method of diagnosis, and treatmentGenetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Phenotype and genotype in Nicolaides-Baraitser syndrome.Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.Anaesthetic concerns in an infant with a rare genetic condition; chromosome 9p22 deletion syndrome.Clinical and neuroradiological features of the 9p deletion syndrome.Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.Patient with terminal 9 Mb deletion of chromosome 9p: refining the critical region for 9p monosomy syndrome with trigonocephaly.Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literaturePartial 9P Monosomy and Partial 8Q Trisomy by Adjacent 1 Segregation of Balanced Paternal Translocation Revealed by Molecular Karyotyping
P2860
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P2860
Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@ast
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@en
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@nl
type
label
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@ast
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@en
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@nl
prefLabel
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@ast
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@en
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@nl
P2093
P2860
P356
P1476
Chromosome breakage hotspots a ...... for the 9p-deletion syndrome.
@en
P2093
J M Conroy
L A Christ
M A Micale
S Schwartz
P2860
P304
P356
10.1086/302606
P407
P577
1999-11-01T00:00:00Z