Literature DB >> 1404290

A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model.

F Giannelli1, S Saad, A J Montandon, D R Bentley, P M Green.   

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Year:  1992        PMID： 1404290      PMCID： PMC1016089          DOI： 10.1136/jmg.29.9.602

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  25 in total

1.  Origin of mutation in sporadic cases of haemophilia-B.

Authors:  S Kling; R Ljung; E Sjörin; J Montandon; P Green; F Giannelli; I M Nilsson
Journal:  Eur J Haematol       Date:  1992-03       Impact factor: 2.997

2.  [Benign epithelial pulmonary tumors].

Authors:  A V GRIGORIAN; G L VOL'-EPSHTEIN; V S ZHDONOV; E V RYZHKOV
Journal:  Khirurgiia (Mosk)       Date:  1959-01

3.  Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1992-05-11       Impact factor: 16.971

4.  Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome.

Authors:  S Kling; A J Coffey; R Ljung; E Sjörin; I M Nilsson; L Holmberg; F Giannelli
Journal:  Eur J Haematol       Date:  1991-10       Impact factor: 2.997

5.  Haplotype analysis of identical factor IX mutants using PCR.

Authors:  P M Green; A J Montandon; R Ljung; I M Nilsson; F Giannelli
Journal:  Thromb Haemost       Date:  1992-01-23       Impact factor: 5.249

6.  Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.

Authors:  J A Naylor; P M Green; A J Montandon; C R Rizza; F Giannelli
Journal:  Lancet       Date:  1991-03-16       Impact factor: 79.321

7.  Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden.

Authors:  A J Montandon; P M Green; D R Bentley; R Ljung; S Kling; I M Nilsson; F Giannelli
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

8.  Point mutations in the dystrophin gene.

Authors:  R G Roberts; M Bobrow; D R Bentley
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

Review 9.  Genetics and molecular biology of haemophilias A and B.

Authors:  P M Green; A J Montandon; D R Bentley; F Giannelli
Journal:  Blood Coagul Fibrinolysis       Date:  1991-08       Impact factor: 1.276

10.  Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.

Authors:  P M Green; A J Montandon; R Ljung; D R Bentley; I M Nilsson; S Kling; F Giannelli
Journal:  Br J Haematol       Date:  1991-07       Impact factor: 6.998
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  1 in total

1.  Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.

Authors:  D Caprino; M Acquila; P G Mori
Journal:  Ann Hematol       Date:  1993-12       Impact factor: 3.673
  1 in total

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