about
Mechanisms and consequences of somatic mosaicism in humansPallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnosticsReport of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selectionA non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in manLate-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspects.Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndromeChromosomal and multifactorial genetic disorders with oral manifestations.Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.Cytogenetic and molecular analysis in trisomy 12p.Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian SyndromeGenetic and biologic classification of infantile spasms.Characterization by fluorescence and electron microscopy in situ hybridization of a double Y isochromosome.Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis?Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear.Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.Pallister-Killian syndrome in a two-year-old boyMosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome.Karotypic abnormalities in human induced pluripotent stem cells and embryonic stem cells.An Indian boy with additional features in Pallister-Killian syndrome.Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point.Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.Pallister-Killian syndrome: case report with pineal tumor.Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.Developmental delay caused by a supernumerary chromosome, inv dup (15), identified by fluorescent in situ hybridization.Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
P2860
Q28205052-53149582-868E-4BF0-B572-3A71038169C0Q28238337-FA84703D-797B-4CCD-807C-7B18BEE64035Q28248722-3C51C32D-4350-41CA-813A-86025F2C7ADBQ30818512-2D87F6C6-2673-439D-BAAF-0AAC405115EDQ33500941-AB0F1C73-1901-4F30-AB13-D12C9933FF4AQ34351576-9119E4E6-B739-46C1-9E9E-D40BE040C9FBQ34500394-7EF800A0-3DB1-453E-AC3C-8EB5B5F49EACQ35194867-A456C277-3CCE-46D1-92CE-DFC489B2EE38Q35782647-48B94EBC-3FB6-4E5C-8486-E75BD371CE01Q36719179-77438D5A-107E-41B9-BC60-3A0D44DEEE9CQ36720578-EC6E51C4-9EBB-4058-87AF-2A64B733880AQ36809358-C59EE68F-4A9A-4B99-B6D8-5021FBD980C2Q37411365-93149338-66B9-414A-A62C-E0BF43175B5DQ37960573-52453FD0-2515-4148-B5B8-261AEBC77304Q38504065-19EA57BF-F753-42B8-8F9C-3B2745FE1D11Q39685329-0925D654-4258-42FB-89D5-54768BAE4185Q40833633-13673FB3-92C8-4A34-A31B-08C8903C4E1BQ40966668-B1140251-3404-4009-BDC3-6BE245C88C95Q41248813-33B65750-73C0-45F1-941B-E6711FF89492Q41436852-393C4220-82C7-4103-8A09-995B62636398Q42223648-351F9082-DF77-4C5B-95F4-7B384DDB3199Q42633715-5B3E915C-EC3C-4D57-AC97-1BF85C34AD04Q45047169-AFAEA697-49F7-4D4B-8472-FB5B0981F0CAQ50432675-D244686C-7ACA-42C2-A76E-E4EB810DFBDFQ50487484-749DF0C5-815A-43B4-BE13-934C98324576Q51955271-07C67AA4-CEF2-4854-94AC-D9FE34DBD0A6Q51972273-248CC64C-B6DD-497B-80F9-CF06D5340E84Q52002783-57A200C8-C8D6-4B3A-9329-C99FAAAADACEQ52209400-A60B3122-D0A6-448D-981E-9575581ED4CDQ53133112-8C8ABE8A-99CD-4D4A-9796-5DCA8D28DD09Q56522446-50694813-BBAA-4014-9A75-569ACC31E38C
P2860
description
1991 nî lūn-bûn
@nan
1991 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Tetrasomy 12p (Pallister-Killian syndrome).
@ast
Tetrasomy 12p (Pallister-Killian syndrome).
@en
type
label
Tetrasomy 12p (Pallister-Killian syndrome).
@ast
Tetrasomy 12p (Pallister-Killian syndrome).
@en
prefLabel
Tetrasomy 12p (Pallister-Killian syndrome).
@ast
Tetrasomy 12p (Pallister-Killian syndrome).
@en
P2860
P356
P1476
Tetrasomy 12p (Pallister-Killian syndrome).
@en
P2093
Schinzel A
P2860
P304
P356
10.1136/JMG.28.2.122
P407
P577
1991-02-01T00:00:00Z