Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia-Reference-Cited by-同舟云学术

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Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia

Published:2018-08-08 Issue:5 Volume:24 Page:711-719
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Lannoy N.¹^ORCID,Hermans C.¹

Affiliation:

1. Hemostasis and Thrombosis Unit; Hemophilia Clinic; Division of Hematology; Cliniques Universitaires Saint-Luc; Brussels Belgium

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13569/fullpdf

Reference56 articles.

1. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993

2. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions;Naylor;Hum Mol Genet,1993

3. Investigation of the factor VIII intron 22 repeated region (int22 h) and the associated inversion junctions;Naylor;Hum Mol Genet,1995

4. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A;Bagnall;Blood,2002

5. Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency;Lannoy;Haemophilia,2009

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1. Detection of hemophilia A genetic variants using third-generation long-read sequencing;Clinica Chimica Acta;2024-08

2. Molecular diagnostics for coagulopathies;Diagnostic Molecular Pathology;2024

3. Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China;Global Medical Genetics;2023-09

4. Tandem and inverted duplications in haemophilia A: Breakpoint characterisation provides insight into possible rearrangement mechanisms;Haemophilia;2023-05-16

5. Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping;Haemophilia;2023-03-10

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