Literature DB >> 9694739

Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A.

Q Liu, G Nozari, S S Sommer.   

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Year:  1998        PMID： 9694739

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  27 in total

1.  Mutation analysis of factor VIII in Korean patients with severe hemophilia A.

Authors:  Chur-Woo You; Hee-Sook Son; Hee Jin Kim; Eui-Jeon Woo; Soon-Ae Kim; Haing-Woon Baik
Journal:  Int J Hematol       Date:  2010-06-10       Impact factor: 2.490

2.  Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

Authors:  Yuhri Miyawaki; Atsuo Suzuki; Yuhta Fujimori; Akira Takagi; Takashi Murate; Nobuaki Suzuki; Akira Katsumi; Tomoki Naoe; Koji Yamamoto; Tadashi Matsushita; Junki Takamatsu; Tetsuhito Kojima
Journal:  Int J Hematol       Date:  2010-08-11       Impact factor: 2.490

3.  Assaying chromosomal inversions by single-molecule haplotyping.

Authors:  Daniel J Turner; Jay Shendure; Greg Porreca; George Church; Peter Green; Chris Tyler-Smith; Matthew E Hurles
Journal:  Nat Methods       Date:  2006-06       Impact factor: 28.547

4.  Risk factors for inhibitor formation in haemophilia: a prevalent case-control study.

Authors:  M V Ragni; O Ojeifo; J Feng; J Yan; K A Hill; S S Sommer; M N Trucco; D J Brambilla
Journal:  Haemophilia       Date:  2009-06-26       Impact factor: 4.287

Review 5.  Genetic testing in bleeding disorders.

Authors:  C de Brasi; O El-Maarri; D J Perry; J Oldenburg; B Pezeshkpoor; A Goodeve
Journal:  Haemophilia       Date:  2014-05       Impact factor: 4.287

6.  Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia.

Authors:  Miguel Martín Abelleyro; Vanina Daniela Marchione; Micaela Palmitelli; Claudia Pamela Radic; Daniela Neme; Irene Beatriz Larripa; Enrique Medina-Acosta; Carlos Daniel De Brasi; Liliana Carmen Rossetti
Journal:  Eur J Hum Genet       Date:  2019-01-09       Impact factor: 4.246

7.  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

8.  Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A.

Authors:  Mahmoud Shekari Khaniani; Abdollah Ebrahimi; Setareh Daraei; Sima Mansoori Derakhshan
Journal:  Indian J Hematol Blood Transfus       Date:  2016-06-27       Impact factor: 0.900

9.  Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A.

Authors:  Richard D Bagnall; Karen L Ayres; Peter M Green; Francesco Giannelli
Journal:  Genome Res       Date:  2005-02       Impact factor: 9.043

10.  Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Authors:  R Santacroce; M Acquila; D Belvini; G Castaldo; I Garagiola; S H Giacomelli; A M Lombardi; B Minuti; F Riccardi; R Salviato; L Tagliabue; E Grandone; M Margaglione
Journal:  J Hum Genet       Date:  2008-01-23       Impact factor: 3.172
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