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Items: 1 to 20 of 78

1.

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

Bento C, Maia TM, Milosevic JD, Carreira IM, Kralovics R, Ribeiro ML.

Haematologica. 2013 Jan;98(1):e4-6. doi: 10.3324/haematol.2012.064097. Epub 2012 Aug 8. No abstract available.

2.

{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.

Chang JG, Tsai WC, Chong IW, Chang CS, Lin CC, Liu TC.

Haematologica. 2008 Jun;93(6):913-6. doi: 10.3324/haematol.12195. Epub 2008 Apr 15.

3.

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

Harteveld CL, Refaldi C, Giambona A, Ruivenkamp CA, Hoffer MJ, Pijpe J, De Knijff P, Borgna-Pignatti C, Maggio A, Cappellini MD, Giordano PC.

Haematologica. 2013 May;98(5):691-5. doi: 10.3324/haematol.2012.065219. Epub 2012 Sep 14.

4.

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

Ceballos-Picot I, Guest G, Moriniere V, Mockel L, Daudon M, Malan V, Antignac C, Heidet L.

Clin Genet. 2011 Aug;80(2):199-201. doi: 10.1111/j.1399-0004.2011.01626.x. No abstract available.

PMID:
21749366
5.

Acquired uniparental disomy in myeloproliferative neoplasms.

Score J, Cross NC.

Hematol Oncol Clin North Am. 2012 Oct;26(5):981-91. doi: 10.1016/j.hoc.2012.07.002. Epub 2012 Aug 18. Review.

PMID:
23009933
6.

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray.

Gemignani F, Perra C, Landi S, Canzian F, Kurg A, Tõnisson N, Galanello R, Cao A, Metspalu A, Romeo G.

Clin Chem. 2002 Nov;48(11):2051-4. No abstract available.

7.

Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.

Blattner A, Brunner-Agten S, Ludin K, Hergersberg M, Herklotz R, Huber AR, Röthlisberger B.

Blood Cells Mol Dis. 2013 Jun;51(1):39-47. doi: 10.1016/j.bcmd.2013.02.002. Epub 2013 Mar 13.

PMID:
23491071
8.

Dermatoglyphs in patients with beta-thalassemia major and their thalassemia carrier parents.

Dogramaci AC, Savas N, Bagriacik MA.

Coll Antropol. 2009 Jun;33(2):607-11.

PMID:
19662786
9.

Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy.

Smith A, Loughnan G, Steinbeck K.

J Med Genet. 2003 May;40(5):e63. No abstract available.

10.

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.

Miyatake S, Tada H, Moriya S, Takanashi J, Hirano Y, Hayashi M, Oya Y, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.

Clin Genet. 2015 Apr;87(4):395-7. doi: 10.1111/cge.12455. Epub 2014 Sep 8. No abstract available.

PMID:
25040701
11.
13.

Simultaneous detection of alpha-thalassemia and beta-thalassemia by oligonucleotide microarray.

Bang-Ce Y, Hongqiong L, Zhuanfong Z, Zhengsong L, Jianling G.

Haematologica. 2004 Aug;89(8):1010-2.

14.

Rapid detection of Chinese G gamma+(A gamma delta beta)zero-thalassemia by polymerase chain reaction.

Ko TM, Tseng LH, Hsieh FJ, Chuang SM, Lee TY.

Acta Haematol. 1993;89(2):80-1.

PMID:
8503248
15.

Mild β(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).

Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L.

Hemoglobin. 2013;37(4):378-86. doi: 10.3109/03630269.2013.788511. Epub 2013 May 8.

PMID:
23651435
16.

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK.

Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7.

PMID:
23225330
17.

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome.

Vogels A, Matthijs G, Legius E, Devriendt K, Fryns JP.

J Med Genet. 2003 Jan;40(1):72-3. No abstract available.

18.

Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.

Al-Jasmi F, Abdelhaleem M, Stockley T, Lee KS, Clarke JT.

J Pediatr Hematol Oncol. 2008 Aug;30(8):621-4. doi: 10.1097/MPH.0b013e31817580fd.

PMID:
18799942
19.

Genotype-phenotype correlations in beta-thalassemias.

Cao A, Galanello R, Rosatelli MC.

Blood Rev. 1994 Mar;8(1):1-12. Review.

PMID:
8205005
20.

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty.

Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P, Eggermann T.

Am J Med Genet A. 2005 Jun 15;135(3):336-8. No abstract available.

PMID:
15887281

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