Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p
about
High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPASubtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Duplication 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.Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomaliesWest syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocationDuplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Clinical and neuroradiological features of the 9p deletion syndrome.9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.Patient with terminal 9 Mb deletion of chromosome 9p: refining the critical region for 9p monosomy syndrome with trigonocephaly.Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosisRing chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literatureDe novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonoce
P2860
Q24647461-7C1EB8CE-B623-4B90-AEBE-349A04C81D00Q34327312-056E9FE3-3292-444F-80E5-9CDB7333C93AQ34982585-5444B9F3-AA3A-4388-BE13-740FF582C0A5Q35200158-8FFB7F89-282D-4312-8CB1-87DB752F457EQ35257406-7E3F02DC-1EA6-46B0-8913-FD06E4868AA2Q35531084-DF77E632-EFBE-483C-BC05-4C0B4226888DQ36165740-CA2FEE52-8CC9-4375-8AE8-B9B744677289Q36292917-B8CA635C-87AC-4265-B0DC-E533EF66F20FQ39605442-639597E4-B8D3-40E7-AE8C-F8C0CC7F1C9EQ41936112-3F7B8C64-AB1B-4BCA-A23D-50BC85A1F4D6Q42551869-B887AA32-0F1E-45BE-8776-7A78ADDDB33DQ46119187-C3518CF6-26D9-4078-B2B2-30DA4BE719C0Q47635812-6B365823-45CA-4A4C-BAAE-49C5466D8EDCQ50022682-C7640F73-A039-4637-A470-60E05AEA34B0Q50548049-A53B55B4-3BFE-4006-8859-6AEA1BF60911Q53099792-8DF868E3-55BA-47B3-A120-F3FFCD4A4081Q53116917-E208DD2A-5A34-4BE4-AEB6-7253F9D3EC8DQ53216976-872D6C6E-0DB7-4F15-AB3D-8365392FCCDBQ55110305-05CF26B2-20F3-474A-BB07-FF32E6FBF62CQ56264809-E047E88A-7E45-4A9E-AEA6-0C466D349920Q56320103-7D105247-1B2F-414F-BC5E-A9DDFD17CA32Q56320335-DEA4C8B0-FEC3-455B-8B22-487911998086
P2860
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Detailed characterization of, ...... tal deletions of chromosome 9p
@ast
Detailed characterization of, ...... tal deletions of chromosome 9p
@en
Detailed characterization of, ...... tal deletions of chromosome 9p
@nl
type
label
Detailed characterization of, ...... tal deletions of chromosome 9p
@ast
Detailed characterization of, ...... tal deletions of chromosome 9p
@en
Detailed characterization of, ...... tal deletions of chromosome 9p
@nl
prefLabel
Detailed characterization of, ...... tal deletions of chromosome 9p
@ast
Detailed characterization of, ...... tal deletions of chromosome 9p
@en
Detailed characterization of, ...... tal deletions of chromosome 9p
@nl
P2093
P2860
P1433
P1476
Detailed characterization of, ...... tal deletions of chromosome 9p
@en
P2093
Gordana Raca
Kristin May
Margaret Adam
Rhonda Spiro
Sara Cooper
Xueya Hauge
P2860
P2888
P304
P356
10.1097/GIM.0B013E31817E2BDE
P407
P577
2008-08-01T00:00:00Z
P5875
P6179
1035041568