Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome.

Literature DB >> 19286882

A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome.

Christian Rose, Julien Rossignol, Anne Lambilliotte, Sandrine Depret, Nathalie Le Metayer, Serge Pissard.

Abstract

Entities: Disease

Mesh：

Substances：
alpha-Globins

Year: 2009 PMID： 19286882 PMCID： PMC2663625 DOI： 10.3324/haematol.2008.002675

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

× No keyword cloud information.

10 in total

1. A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family.

Authors: Laurence Game; Jean Bergounioux; James Paul Close; B Esperenza Marzouka; Swee Lay Thein
Journal: Br J Haematol Date: 2003-10 Impact factor: 6.998

2. Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family.

Authors: Cornelis L Harteveld; Cameron S Osborne; Marjolein Peters; Steffie van der Werf; Rob Plug; Peter Fraser; Piero C Giordano
Journal: Br J Haematol Date: 2003-09 Impact factor: 6.998

3. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Authors: Federica Casilli; Zorika Christiana Di Rocco; Sophie Gad; Isabelle Tournier; Dominique Stoppa-Lyonnet; Thierry Frebourg; Mario Tosi
Journal: Hum Mutat Date: 2002-09 Impact factor: 4.878

4. Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.

Authors: R J Trent; B G Williams; A Kearney; T Wilkinson; P C Harris
Journal: Blood Date: 1990-11-15 Impact factor: 22.113

Review 5. Beta-thalassemia.

Authors: Deborah Rund; Eliezer Rachmilewitz
Journal: N Engl J Med Date: 2005-09-15 Impact factor: 91.245

1 in total

1. Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient.

Authors: Ilaria Fotzi; Francesco Pegoraro; Elena Chiocca; Tommaso Casini; Massimo Mogni; Marinella Veltroni; Claudio Favre
Journal: Front Pediatr Date: 2022-03-17 Impact factor: 3.418

1 in total

A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome.

1. A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family.

2. Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family.

3. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

4. Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.

Review 5. Beta-thalassemia.

6. Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.

7. Triplicated alpha-globin loci in humans.

8. A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient.

Review 9. Genetic modifiers of the beta-haemoglobinopathies.

10. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

1. Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient.