About: First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

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About: First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1985

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) artículu científicu espublizáu en 1985 (ast) наукова стаття, опублікована в січні 1985 (uk) articolo scientifico (pubblicato il 1985) (it) artigo científico (publicado na 1985) (pt) im Jahr 1985 veröffentlichter wissenschaftlicher Artikel (de) article scientifique publié en 1985 (fr) artikull shkencor i botuar më 01 janar 1985 (sq) scientific article published on 01 January 1985 (en)
publication date	wds:Q69834543-0248F165-A699-4992-807D-910E1D97EC00
publication date	1985-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q69834543-02795E3E-8AB7-4864-921E-21CA7F621FD1
exact match	https://scigraph.springernature.com/pub.10.1007/bf00293039
cites work	wds:Q69834543-192BCD18-18A9-4D5D-941E-298D05FDBFEC wds:Q69834543-2396CCD3-0384-42C1-B129-D7A62CD8090D wds:Q69834543-282269FC-A9EE-4D95-B708-28FDCA42DF1C wds:Q69834543-3048EBF8-9196-4843-9D90-EC2D4CE1575A wds:Q69834543-373A0A18-A6E7-4B29-AE77-0268608583BF wds:Q69834543-37CABA3F-3701-4452-9742-62AC04095E15 wds:Q69834543-3EB396AF-7787-4FAA-B7AA-6E1000635A8A wds:Q69834543-56803BDF-7A1A-4DEE-A280-BAEFB1C31A7F wds:Q69834543-8219A977-99A7-4E86-BB6E-ECF5BB10A8CB wds:Q69834543-822EE156-5FF4-4321-9D84-8BF928C21132 wds:Q69834543-86142A26-813E-488C-9B5B-A95088802117 wds:Q69834543-C24C03B7-8BA1-4A72-A666-EAAD65765814 wds:Q69834543-CE53A5D1-C4D8-4F68-AD80-F474649DDA94 wds:Q69834543-E8875B99-7BBA-4467-9520-F27D2CD730E8 wds:Q69834543-E8C138C5-52F8-4B1A-8F3C-4F1DFEC5726D wds:Q69834543-FAA0460B-38B7-44C7-A1C6-A7EE121667C6
cites work	Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy Prenatal Diagnosis of Sickle-Cell Anemia in the First Trimester of Pregnancy Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms A clinically useful DNA probe closely linked to haemophilia A Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts A cytological map of the human X chromosome--evidence for non-random recombination Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes Identification of female carriers of adrenoleukodystrophy The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland
author name string	wds:Q69834543-3A840E86-5AEE-42C6-BF9D-06F8A4C16D6D wds:Q69834543-3EB15524-40E1-4A5D-9785-50ECFE4FD93C wds:Q69834543-552B37D7-E286-4A2C-A0ED-A5845173775A wds:Q69834543-5603C75C-0404-408E-9A69-ECB92AF198D7 wds:Q69834543-633D7A3A-F9FB-42DF-B4B8-D09DC51E54F6 wds:Q69834543-68F9205F-3A71-4781-8F5B-895EB4BC97C6 wds:Q69834543-A548F51F-03D9-432B-94B5-71B983BFB8DA wds:Q69834543-B666C371-05C4-4F13-A321-7A23C0E25BF2 wds:Q69834543-BF455C2F-3967-47DB-92BA-4FF4223FCDDE
author name string	R Heilig J L Mandel A Boué A Moser H Moser Y Dumez J Boué J W Larsen I Oberle
rdfs:label	First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (en) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (nl) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (sq)
skos:prefLabel	First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (en) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (nl) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (sq)
name	First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (en) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (nl) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (sq)
title	wds:Q69834543-24DB2CC5-B48F-4CA2-9702-BE21CF922364
title	First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (en)
page(s)	wds:Q69834543-14BE211E-0FD7-4584-95BD-ECEE8DB2CBE6
page(s)	272-274
instance of	wds:Q69834543-8A0EAE13-4F19-4323-A416-1B22D1A7B6A1
instance of	scholarly article
PubMed ID	wds:Q69834543-73E62D68-82C3-4DCE-8397-352D59E4F61F
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/3856557
PubMed ID	3856557
published in	wds:Q69834543-53D24F1A-F992-41CB-B1A6-DD5351F45457
published in	Human Genetics
issue	wds:Q69834543-27802C5E-65EE-4F3E-94A7-4C1F8023A5F0
volume	wds:Q69834543-567F0AA5-45F7-4D1C-B17C-FDAF555376D9
issue	3
volume	69
DOI	wds:Q69834543-A282F3D6-146E-496E-96D9-21FC34375440
DOI	http://dx.doi.org/10.1007/BF00293039
DOI	10.1007/BF00293039
Dimensions Publication ID	wds:Q69834543-3F011270-5751-4E58-A203-A82C5804A18E
Dimensions Publication ID	1012582647
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q69834543
is cites work of	X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters Peroxisomal disorders: a newly recognised group of genetic diseases Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome Prenatal and perinatal diagnosis of peroxisomal disorders Diagnosis of genetic disease using recombinant DNA.

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