Literature DB >> 2897431

Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe.

S Berriche1, J C Turpin, G Lucotte.   

Abstract

Segregation studies of X-linked adrenoleukodystrophy (ALD) and a cloned desoxyribonucleic fragment (factor VIII gene), which detects polymorphism in the distal end of the long arm of the X chromosome (Xq28), are reported in a large sibship ALD family. The findings should permit better identification of carriers and add a new marker for identifying the ALD gene itself.

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 2897431     DOI： 10.1007/bf00314353

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  7 in total

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

Authors:  J Boué; I Oberle; R Heilig; J L Mandel; A Moser; H Moser; J W Larsen; Y Dumez; A Boué
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes.

Authors:  I Singh; A E Moser; H W Moser; Y Kishimoto
Journal:  Pediatr Res       Date:  1984-03       Impact factor: 3.756

3.  Linkage of adrenoleukodystrophy to a polymorphic DNA probe.

Authors:  P R Aubourg; G H Sack; D A Meyers; J J Lease; H W Moser
Journal:  Ann Neurol       Date:  1987-04       Impact factor: 10.422

4.  Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

Authors:  B R Migeon; H W Moser; A B Moser; J Axelman; D Sillence; R A Norum
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205

5.  Identification of female carriers of adrenoleukodystrophy.

Authors:  H W Moser; A E Moser; J E Trojak; S W Supplee
Journal:  J Pediatr       Date:  1983-07       Impact factor: 4.406

6.  [Adult disclosure of a case of familial adrenoleukodystrophy].

Authors:  J C Turpin; M Paturneau-Jouas; C Sereni; M Pluot; N Baumann
Journal:  Rev Neurol (Paris)       Date:  1985       Impact factor: 2.607

7.  Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

Authors:  S E Antonarakis; P G Waber; S D Kittur; A S Patel; H H Kazazian; M A Mellis; R B Counts; G Stamatoyannopoulos; E J Bowie; D N Fass
Journal:  N Engl J Med       Date:  1985-10-03       Impact factor: 91.245
  7 in total
  3 in total

1.  Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible.

Authors:  G E Graham; P M MacLeod; D P Lillicrap; P J Bridge
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis.

Authors:  L D Notarangelo; O Parolini; G Baiguini; F Buzi; C Paterlini; A Perini; M Rimoldi; S Tiberti; G Uziel; L Notarangelo
Journal:  Eur J Pediatr       Date:  1992-10       Impact factor: 3.183

3.  Adult adrenoleukodystrophy: the clinical spectrum in a large Dutch family.

Authors:  C P Zwetsloot; G W Padberg; A P van Seters; P D Maaswinkel-Mooy; W Onkenhout
Journal:  J Neurol       Date:  1992-02       Impact factor: 4.849
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.