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2. Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples. Radic CP; Rossetti LC; Zuccoli JR; Abelleyro MM; Larripa IB; De Brasi CD Prenat Diagn; 2009 Dec; 29(12):1183-5. PubMed ID: 19842127 [No Abstract] [Full Text] [Related]
3. Detection of F8 int22h inversions using digital droplet PCR and mile-post assays. Manderstedt E; Lind-Halldén C; Ljung R; Astermark J; Halldén C J Thromb Haemost; 2020 May; 18(5):1039-1049. PubMed ID: 32031725 [TBL] [Abstract][Full Text] [Related]
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5. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. Bagnall RD; Giannelli F; Green PM J Thromb Haemost; 2006 Mar; 4(3):591-8. PubMed ID: 16460442 [TBL] [Abstract][Full Text] [Related]
6. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Tsui NB; Kadir RA; Chan KC; Chi C; Mellars G; Tuddenham EG; Leung TY; Lau TK; Chiu RW; Lo YM Blood; 2011 Mar; 117(13):3684-91. PubMed ID: 21263151 [TBL] [Abstract][Full Text] [Related]
7. Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR. Rossetti LC; Radic CP; Abelleyro MM; Larripa IB; De Brasi CD Int J Mol Sci; 2011; 12(10):7271-85. PubMed ID: 22072947 [TBL] [Abstract][Full Text] [Related]
8. [Prenatal diagnosis for fetus with hemophilia A]. Zhao Y; Liang Y; Wang ZY; Xiao B Zhonghua Fu Chan Ke Za Zhi; 2008 Apr; 43(4):262-5. PubMed ID: 18843965 [TBL] [Abstract][Full Text] [Related]
9. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes. Bastida JM; González-Porras JR; Jiménez C; Benito R; Ordoñez GR; Álvarez-Román MT; Fontecha ME; Janusz K; Castillo D; Fisac RM; García-Frade LJ; Aguilar C; Martínez MP; Bermejo N; Herrero S; Balanzategui A; Martin-Antorán JM; Ramos R; Cebeiro MJ; Pardal E; Aguilera C; Pérez-Gutierrez B; Prieto M; Riesco S; Mendoza MC; Benito A; Hortal Benito-Sendin A; Jiménez-Yuste V; Hernández-Rivas JM; García-Sanz R; González-Díaz M; Sarasquete ME Thromb Haemost; 2017 Jan; 117(1):66-74. PubMed ID: 27734074 [TBL] [Abstract][Full Text] [Related]
10. A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors. Fujita J; Miyawaki Y; Suzuki A; Maki A; Okuyama E; Murata M; Takagi A; Murate T; Suzuki N; Matsushita T; Saito H; Kojima T J Thromb Haemost; 2012 Oct; 10(10):2099-107. PubMed ID: 22906111 [TBL] [Abstract][Full Text] [Related]
11. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. Rydz N; Leggo J; Tinlin S; James P; Lillicrap D Am J Hematol; 2013 Dec; 88(12):1030-4. PubMed ID: 23913812 [TBL] [Abstract][Full Text] [Related]
12. Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing. Lyu C; Xue F; Liu X; Liu W; Fu R; Sun T; Wu R; Zhang L; Li H; Zhang D; Yang R; Zhang L Haemophilia; 2016 Sep; 22(5):e427-34. PubMed ID: 27292088 [TBL] [Abstract][Full Text] [Related]
13. Single-tube tetradecaplex panel of highly polymorphic microsatellite markers < 1 Mb from F8 for simplified preimplantation genetic diagnosis of hemophilia A. Zhao M; Chen M; Tan ASC; Cheah FSH; Mathew J; Wong PC; Chong SS J Thromb Haemost; 2017 Jul; 15(7):1473-1483. PubMed ID: 28345288 [TBL] [Abstract][Full Text] [Related]
14. Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines. Andersson NG; Labarque V; Letelier A; Mancuso ME; Bührlen M; Fischer K; Kartal-Kaess M; Koskenvuo M; Mikkelsen T; Ljung R; Hum Mutat; 2020 Dec; 41(12):2058-2072. PubMed ID: 32935414 [TBL] [Abstract][Full Text] [Related]
15. Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. Rossetti LC; Radic CP; Larripa IB; De Brasi CD J Thromb Haemost; 2008 May; 6(5):830-6. PubMed ID: 18284600 [TBL] [Abstract][Full Text] [Related]
16. A Closed-Tube Nested Quantitative PCR Assay for Rapid Detection of Intron 22 Inversions in the Factor VIII Gene. Jin S; Shang Q; Jin W; Yang L; Ye Q; Wang X; Zhang T; Hou M; Liu Y; Han J; Ding R; Luan J; Wang X; Jiang M; Ding C Clin Chem; 2020 Feb; 66(2):373-378. PubMed ID: 32040575 [TBL] [Abstract][Full Text] [Related]
17. Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis. Chen C; Xie X; Wu X; Lu Y; Wang X; Wu W; Hu Y; Ding Q Thromb Haemost; 2017 Jul; 117(8):1478-1485. PubMed ID: 28492696 [TBL] [Abstract][Full Text] [Related]
18. [Introns 1 and 22 inversions and F8 gene sequencing for molecular diagnosis of hemophilia A in Chile]. Poggi H; Honorato J; Romeo E; Zúñiga P; Quiroga T; Lagos M Rev Med Chil; 2011 Feb; 139(2):189-96. PubMed ID: 21773656 [TBL] [Abstract][Full Text] [Related]
19. [Detection and genetic counseling of F8 gene inversions for patients with severe hemophilia A]. Bai N; Wu Q; Liu N; Chen D; Zhao Z; Kong X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):508-10. PubMed ID: 27455009 [TBL] [Abstract][Full Text] [Related]
20. [Application study on inversion diagnosis of F8 gene in hemophilia A]. Qi LY; Jin CL; Lin CK; Ren MH; Dong WH; Sun KL Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):405-8. PubMed ID: 17680530 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]