Literature DB >> 2563431

Mosaicism and sporadic haemophilia: implications for carrier determination.

J Gitschier, B Levinson, A E Lehesjoki, A De La Chapelle.   

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Year:  1989        PMID： 2563431     DOI： 10.1016/s0140-6736(89)91279-8

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  14 in total

1.  Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.

Authors:  L Prior; S Bordet; M A Trifiro; A Mhatre; M Kaufman; L Pinsky; K Wrogeman; D D Belsham; F Pereira; C Greenberg
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

2.  Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Authors:  A H Bröcker-Vriends; F R Rosendaal; J C van Houwelingen; E Bakker; G J van Ommen; J J van de Kamp; E Briët
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors:  E W Murray; A R Giles; D Lillicrap
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

4.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

5.  Molecular analysis of hemophilia A mutations in the Finnish population.

Authors:  B Levinson; A E Lehesjoki; A de la Chapelle; J Gitschier
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

6.  Germline and somatic mosaicism in a female carrier of Hunter disease.

Authors:  R Froissart; I Maire; V Bonnet; T Levade; D Bozon
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

7.  Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.

Authors:  J M Puck; C C Stewart; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

Review 8.  Haemophilia: strategies for carrier detection and prenatal diagnosis.

Authors:  I R Peake; D P Lillicrap; V Boulyjenkov; E Briet; V Chan; E K Ginter; E M Kraus; R Ljung; P M Mannucci; K Nicolaides
Journal:  Bull World Health Organ       Date:  1993       Impact factor: 9.408

9.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

10.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971
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