Literature DB >> 19951973

A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease.

Philippe Joly, Philippe Lacan, Audrey Labalme, Elodie Bonhomme, Damien Sanlaville, Alain Francina.   

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Year:  2009        PMID： 19951973      PMCID： PMC2864397          DOI： 10.3324/haematol.2009.018663

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


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  10 in total

1.  Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.

Authors:  S S Chong; C D Boehm; D R Higgs; G R Cutting
Journal:  Blood       Date:  2000-01-01       Impact factor: 22.113

2.  AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1.

Authors:  S Satoh; Y Daigo; Y Furukawa; T Kato; N Miwa; T Nishiwaki; T Kawasoe; H Ishiguro; M Fujita; T Tokino; Y Sasaki; S Imaoka; M Murata; T Shimano; Y Yamaoka; Y Nakamura
Journal:  Nat Genet       Date:  2000-03       Impact factor: 38.330

3.  Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.

Authors:  N A Oates; J van Vliet; D L Duffy; H Y Kroes; N G Martin; D I Boomsma; M Campbell; M G Coulthard; E Whitelaw; S Chong
Journal:  Am J Hum Genet       Date:  2006-05-22       Impact factor: 11.025

4.  Refinement of the genetic cause of ATR-16.

Authors:  Cornelis L Harteveld; Marjolein Kriek; Emilia K Bijlsma; Zoran Erjavec; Deepak Balak; Marion Phylipsen; Astrid Voskamp; Emmanora di Capua; Stefan J White; Piero C Giordano
Journal:  Hum Genet       Date:  2007-06-28       Impact factor: 4.132

Review 5.  Wnt signaling and skeletal development.

Authors:  Fei Liu; Sean Kohlmeier; Cun-Yu Wang
Journal:  Cell Signal       Date:  2007-11-28       Impact factor: 4.315

Review 6.  Wnt/beta-catenin signaling: components, mechanisms, and diseases.

Authors:  Bryan T MacDonald; Keiko Tamai; Xi He
Journal:  Dev Cell       Date:  2009-07       Impact factor: 12.270

7.  Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

Authors:  R J Daniels; J F Peden; C Lloyd; S W Horsley; K Clark; C Tufarelli; L Kearney; V J Buckle; N A Doggett; J Flint; D R Higgs
Journal:  Hum Mol Genet       Date:  2001-02-15       Impact factor: 6.150

8.  Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.

Authors:  S W Horsley; R J Daniels; E Anguita; H A Raynham; J F Peden; A Villegas; M A Vickers; S Green; J S Waye; D H Chui; H Ayyub; A B MacCarthy; V J Buckle; R J Gibbons; L Kearney; D R Higgs
Journal:  Eur J Hum Genet       Date:  2001-03       Impact factor: 4.246

9.  Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

Authors:  B Menten; N Maas; B Thienpont; K Buysse; J Vandesompele; C Melotte; T de Ravel; S Van Vooren; I Balikova; L Backx; S Janssens; A De Paepe; B De Moor; Y Moreau; P Marynen; J-P Fryns; G Mortier; K Devriendt; F Speleman; J R Vermeesch
Journal:  J Med Genet       Date:  2006-02-20       Impact factor: 6.318

10.  Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.

Authors:  Philippe Joly; Philippe Lacan; Caroline Garcia; Nicole Couprie; Alain Francina
Journal:  Blood Cells Mol Dis       Date:  2009-03-09       Impact factor: 3.039
  10 in total
  2 in total

1.  Two atypical forms of HbH disease in Sardinia.

Authors:  Maria Elisabetta Paglietti; Maria Carla Sollaino; Daniela Loi; Francesca Sarra; Eleonora Zaccheddu; Renzo Galanello
Journal:  Haematologica       Date:  2011-07-12       Impact factor: 9.941

2.  Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.

Authors:  Lingling Hu; Xuan Shang; Sheng Yi; Ren Cai; Zhetao Li; Cuixian Liu; Yidan Liang; Decheng Cai; Feng Zhang; Xiangmin Xu
Journal:  Mol Genet Genomics       Date:  2016-03-21       Impact factor: 3.291
  2 in total

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