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Literature DB >> 2676379

Report of the committee on the genetic constitution of the X chromosome.

J L Mandel, H F Willard, R L Nussbaum, G Romeo, J M Puck, K E Davies.

Abstract

Mesh：

Substances：
Genetic Markers

Year: 1989 PMID： 2676379 DOI： 10.1159/000132801

Source DB: PubMed Journal: Cytogenet Cell Genet ISSN： 0301-0171

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Cited

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64 in total

1. Three DNA markers for hypophosphataemic rickets.

Authors: P S Rowe; A P Read; R Mountford; F Benham; T A Kruse; G Camerino; K E Davies; J L O'Riordan
Journal: Hum Genet Date: 1992-07 Impact factor: 4.132

2. Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

Authors: A Gal; M Beck; A C Sewell; C P Morris; E Schwinger; J J Hopwood
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

3. Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Authors: H Traupe; D Müller; D Atherton; D C Kalter; F P Cremers; B A van Oost; H H Ropers
Journal: Hum Genet Date: 1992-08 Impact factor: 4.132

4. A polymorphic dinucleotide repeat at the DXS7 locus.

Authors: B J Moore; S P Kwan; N T Bech-Hansen
Journal: Nucleic Acids Res Date: 1992-02-25 Impact factor: 16.971

5. Dinucleotide repeat polymorphism at the PGK1P1 locus.

Authors: D L Browne; J Zonana; M Litt
Journal: Nucleic Acids Res Date: 1992-03-11 Impact factor: 16.971

6. Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

Authors: M Coleman; S Bhattacharya; S Lindsay; A Wright; M Jay; M Litt; I Craig; K Davies
Journal: Am J Hum Genet Date: 1990-12 Impact factor: 11.025

Report of the committee on the genetic constitution of the X chromosome.

1. Three DNA markers for hypophosphataemic rickets.

2. Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

3. Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

4. A polymorphic dinucleotide repeat at the DXS7 locus.

5. Dinucleotide repeat polymorphism at the PGK1P1 locus.

6. Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

7. Dinucleotide repeat polymorphism at the PGK1 locus.

8. X-linked retinitis pigmentosa: new map studies of XLRP2, and a possible human centromere effect.

9. A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.

10. Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.