Literature DB >> 19054320

Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling.

C Costa, A M Frances, S Letourneau, E Girodon-Boulandet, M Goossens.   

Abstract

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Year:  2008        PMID： 19054320      PMCID： PMC2695984          DOI： 10.1111/j.1538-7836.2008.03246.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  8 in total

1.  De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism.

Authors:  J Oldenburg; S Rost; O El-Maarri; M Leuer; K Olek; C R Müller; R Schwaab
Journal:  Blood       Date:  2000-10-15       Impact factor: 22.113

Review 2.  Denaturing high-performance liquid chromatography: A review.

Authors:  W Xiao; P J Oefner
Journal:  Hum Mutat       Date:  2001-06       Impact factor: 4.878

Review 3.  Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Authors:  F Peyvandi; G Jayandharan; M Chandy; A Srivastava; S M Nakaya; M J Johnson; A R Thompson; A Goodeve; I Garagiola; S Lavoretano; M Menegatti; R Palla; M Spreafico; L Tagliabue; R Asselta; S Duga; P M Mannucci
Journal:  Haemophilia       Date:  2006-07       Impact factor: 4.287

4.  Prevalence of sporadic and familial haemophilia.

Authors:  C K Kasper; J C Lin
Journal:  Haemophilia       Date:  2007-01       Impact factor: 4.287

5.  Somatic mosaicism in hemophilia A: a fairly common event.

Authors:  M Leuer; J Oldenburg; J M Lavergne; M Ludwig; A Fregin; A Eigel; R Ljung; A Goodeve; I Peake; K Olek
Journal:  Am J Hum Genet       Date:  2001-06-14       Impact factor: 11.025

6.  Grandpaternal mosaicism in a family with isolated haemophilia A.

Authors:  G J Casey; S E Rodgers; J R Hall; Z Rudzki; J V Lloyd
Journal:  Br J Haematol       Date:  1999-12       Impact factor: 6.998

7.  Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency.

Authors:  Jacqueline A Cutler; Michael J Mitchell; Mark P Smith; Geoffrey F Savidge
Journal:  Am J Med Genet A       Date:  2004-08-15       Impact factor: 2.802

8.  Prenatal diagnosis of hemophilia involving grandpaternal mosaicism.

Authors:  R V Lebo; M A Koerper; J H Kim; J Chueh; M S Golbus
Journal:  Am J Med Genet       Date:  1993-09-01
  8 in total
  3 in total

1.  Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.

Authors:  Eric Manderstedt; Rosanna Nilsson; Rolf Ljung; Christina Lind-Halldén; Jan Astermark; Christer Halldén
Journal:  Res Pract Thromb Haemost       Date:  2020-09-07

2.  Costs and utilization of treatment in patients with hemophilia.

Authors:  Patrícia Rocha; Manuela Carvalho; Manuela Lopes; Fernando Araújo
Journal:  BMC Health Serv Res       Date:  2015-10-26       Impact factor: 2.655

3.  Haemophilia A: health and economic burden of a rare disease in Portugal.

Authors:  Andreia Café; Manuela Carvalho; Miguel Crato; Miguel Faria; Paula Kjollerstrom; Cristina Oliveira; Patrícia R Pinto; Ramón Salvado; Alexandra Aires Dos Santos; Catarina Silva
Journal:  Orphanet J Rare Dis       Date:  2019-09-04       Impact factor: 4.123
  3 in total

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