Literature DB >> 1351764

Uniparental disomy: a novel mechanism for thalassemia major.

C Beldjord, I Henry, C Bennani, D Vanhaeke, D Labie.   

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Year:  1992        PMID： 1351764

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


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  12 in total

1.  Fortuitous detection of uniparental isodisomy of chromosome 6.

Authors:  M C Bittencourt; M A Morris; J Chabod; A Gos; B Lamy; F Fellmann; S E Antonarakis; E Plouvier; P Herve; P Tiberghien
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

2.  Normal phenotype with paternal uniparental isodisomy for chromosome 21.

Authors:  J L Blouin; D Avramopoulos; C Pangalos; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

Review 3.  Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.

Authors:  A O Wilkie
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

4.  Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.

Authors:  S M Sirchia; C De Andreis; S Pariani; M G Grimoldi; A Molinari; M Buscaglia; G Simoni
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

5.  Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major.

Authors:  Cornelis L Harteveld; Chiara Refaldi; Antonino Giambona; Claudia A L Ruivenkamp; Mariëtte J V Hoffer; Jeroen Pijpe; Peter De Knijff; Caterina Borgna-Pignatti; Aurelio Maggio; Maria D Cappellini; Piero C Giordano
Journal:  Haematologica       Date:  2012-09-14       Impact factor: 9.941

6.  Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.

Authors:  F A Eggerding; S A Schonberg; F F Chehab; M E Norton; V A Cox; C J Epstein
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

7.  Bloom syndrome and maternal uniparental disomy for chromosome 15.

Authors:  T Woodage; M Prasad; J W Dixon; R E Selby; D R Romain; L M Columbano-Green; D Graham; P K Rogan; J R Seip; A Smith
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

Review 8.  Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.

Authors:  Joel Zlotogora
Journal:  Hum Genet       Date:  2004-03-16       Impact factor: 4.132

9.  Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

Authors:  L M Brzustowicz; B A Allitto; D Matseoane; R Theve; L Michaud; S Chatkupt; E Sugarman; G K Penchaszadeh; L Suslak; M R Koenigsberger
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

10.  β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.

Authors:  Celeste Bento; Tabita M Maia; Jelena D Milosevic; Isabel M Carreira; Robert Kralovics; M Leticia Ribeiro
Journal:  Haematologica       Date:  2012-08-08       Impact factor: 9.941
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