About: Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

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About: Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1982

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1982 (uk) im Jahr 1982 veröffentlichter wissenschaftlicher Artikel (de) artikull shkencor i botuar më 01 janar 1982 (sq) scientific article published on 01 January 1982 (en) artículu científicu espublizáu en xineru de 1982 (ast)
publication date	wds:Q71639110-C3682419-9F4D-4F54-A018-891360704D8A
publication date	1982-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q71639110-5110E8F4-3DCC-4027-84D4-F2C47EE7820A
exact match	https://scigraph.springernature.com/pub.10.1007/bf00276602
cites work	wds:Q71639110-0A8289DE-97E8-4F01-A720-6DC3A7BD7F1C wds:Q71639110-1E6C3F53-8A31-4BCD-9AF6-40DCDF2B4E66 wds:Q71639110-221FEB68-3BF9-400B-9EDF-9CC9A19B7296 wds:Q71639110-295B8904-62A8-4794-8B3B-A01EA308DDE1 wds:Q71639110-32CBF3E7-DA60-49B8-BBE8-39EC37A5B76C wds:Q71639110-5BD67F8A-A596-44CF-A871-CBC06635D719 wds:Q71639110-69874DB4-EACA-4FC2-B8C9-7DD401A6D8CB wds:Q71639110-750F2836-1AE0-4DB5-B630-EF012673925F wds:Q71639110-7C32FDA5-E56D-4CBC-BD19-9AE8F564917B wds:Q71639110-95CA7CA1-C2B6-40AC-95D2-EB7326AC9CE7 wds:Q71639110-95D5FEFE-3EB5-48FF-817A-6328AC63CA26 wds:Q71639110-A7B4E0E5-BC84-4838-9B07-72D25ACD7F02 wds:Q71639110-B8CC8DE2-76F9-4C87-A503-DE1D880B1EF8 wds:Q71639110-BB3FD4BF-081A-4102-9841-9C515E2EB0FC wds:Q71639110-BE2DFCCC-4F2E-4C84-B7CD-0E416996ECBC wds:Q71639110-C0F7DE76-3A0B-4F46-9101-AB98536F4A48 wds:Q71639110-C8A0B17E-A929-4434-8E1A-C3B180305D6C wds:Q71639110-CFF2C09C-E458-47C0-9C63-E50D9BDE03FE wds:Q71639110-DE25B874-558D-457A-ACB9-80F8D8929213 wds:Q71639110-E4A95EDE-CF9C-45DC-84D5-0E2D9F1E1E7A wds:Q71639110-EF4DD4CA-E5EE-498D-92D2-E65F5C535BDC
cites work	Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Preferential expression of the maternally derived X chromosome in the mouse yolk sac Preferential X inactivation in human placenta membranes: is the paternal X inactive in early embryonic development of female mammals? Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223 Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring. Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts Letter: Half chromatid mutations may explain incontinentia pigmenti in males Regional assignment of the steroid sulfatase—X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome Regional assignment of the gene locus for steroid sulfatase X-autosome translocations: a review X-chromosome inactivation and selection in somatic cells Aicardi syndrome in a male infant Pneumographic demonstration of subependymal heterotopic cortical gray matter in children. A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223 Steroid sulfatase activity in cultured fibroblasts of XX males A simple procedure for obtaining autoradiographs of G-banded chromosomes [Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities] The Aicardi Syndrome
author name string	wds:Q71639110-319F07A9-A6EF-43E2-979E-68E68D19DDD3 wds:Q71639110-36AB85C6-AF9A-4B12-BE64-FC2F290ED8E7 wds:Q71639110-B19CC563-7E95-4A64-9092-1E9576184383
author name string	E Bianchi H H Ropers L Tiepolo
rdfs:label	Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (en) Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (nl)
skos:prefLabel	Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (en) Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (nl)
name	Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (en) Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (nl)
author	wds:Q71639110-6E7D0DD6-EC0D-496F-9C1D-4724C8C144E2
author	Orsetta Zuffardi
title	wds:Q71639110-6DA60672-EF3D-4C51-85D9-CA4A7B6E8A5D
title	Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation (en)
page(s)	wds:Q71639110-CE2E973F-4878-4342-BFF8-F9015BBC6D17
page(s)	364-368
instance of	wds:Q71639110-B7ECC581-5F39-449D-B41A-8F50C0302CE8
instance of	scholarly article
main subject	wds:Q71639110-C51B86AB-CEC3-43D1-B280-D7DA9869E207
main subject	agenesis of the corpus callosum
PubMed ID	wds:Q71639110-023F89E0-C7AC-4572-B0D6-0E7BB8C6F641
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/6818132
PubMed ID	6818132
published in	wds:Q71639110-79308109-0961-480C-BA18-E4CE7F06A829
published in	Human Genetics
issue	wds:Q71639110-60365EBB-CBF6-4695-9943-BBDD03DF52CB
volume	wds:Q71639110-DE5A9083-2C97-4683-99B5-84A732A81DA1
issue	4
volume	61
DOI	wds:Q71639110-082C41CA-4AC9-4F8D-A652-B59E9216DAEF
DOI	http://dx.doi.org/10.1007/BF00276602
DOI	10.1007/BF00276602
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71639110
is cites work of	Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders A high resolution deletion map of human chromosome Xp22. Chromosome abnormalities and the genetics of congenital corneal opacification Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region Ocular coloboma: a reassessment in the age of molecular neuroscience X-linked dominant inherited diseases with lethality in hemizygous males Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus Microdeletion syndromes, balanced translocations, and gene mapping Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome Physical mapping of two Xp markers DXS16 and DXS143 Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

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