Bignell P - Search Results

1

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

Vila Cuenca M, Marchi G, Barqué A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M, Martins de Albuquerque D, Yotsumoto Fertrin K, Jové-Buxeda E, Sanchez-Delgado J, Baena-Díez N, Burnyte B, Utkus A, Busti F, Kaubrys G, Suku E, Kowalczyk K, Karaszewski B, Porter JB, Pollard S, Eleftheriou P, Bignell P, Girelli D, Sanchez M. Vila Cuenca M, et al. Among authors: bignell p. Int J Mol Sci. 2020 Mar 30;21(7):2374. doi: 10.3390/ijms21072374. Int J Mol Sci. 2020. PMID: 32235485 Free PMC article.

2

Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder 'hereditary hyperferritinaemia without cataracts'.

Bhuva M, Sen S, Elsey T, Atoyebi W, Dreau H, Bradbury C, Johnston R, Bignell P, Griffiths W. Bhuva M, et al. Among authors: bignell p. Br J Haematol. 2019 Mar;184(6):1037-1040. doi: 10.1111/bjh.15231. Epub 2018 May 23. Br J Haematol. 2019. PMID: 29797321 Free article. No abstract available.

3

Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding.

Stapley RJ, Poulter NS, Khan AO, Smith CW, Bignell P, Fratter C, Lester W, Lowe G, Morgan NV; UK GAPP Study Group. Stapley RJ, et al. Among authors: bignell p. J Thromb Haemost. 2022 Feb;20(2):478-485. doi: 10.1111/jth.15584. Epub 2021 Nov 21. J Thromb Haemost. 2022. PMID: 34758189 Free article.

4

Cardiac iron overload in transfusion-dependent patients with myelodysplastic syndromes.

Roy NB, Myerson S, Schuh AH, Bignell P, Patel R, Wainscoat JS, McGowan S, Marchi E, Atoyebi W, Littlewood T, Chacko J, Vyas P, Killick SB. Roy NB, et al. Among authors: bignell p. Br J Haematol. 2011 Aug;154(4):521-4. doi: 10.1111/j.1365-2141.2011.08749.x. Epub 2011 Jun 21. Br J Haematol. 2011. PMID: 21689086 Free article.

5

Heterozygous BMP6 Variants Coupled With HFE Variants.

Bignell P, Atoyebi W, Robson K. Bignell P, et al. Gastroenterology. 2016 Oct;151(4):769. doi: 10.1053/j.gastro.2016.02.088. Epub 2016 Aug 31. Gastroenterology. 2016. PMID: 27591421 No abstract available.

6

Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.

Gallienne AE, Iberson NM, Dréau HM, Jackson H, Bignell PA, Old JM, Schuh A, Henderson SJ. Gallienne AE, et al. Hemoglobin. 2010;34(1):110-4. doi: 10.3109/03630260903554803. Hemoglobin. 2010. PMID: 20113295

7

Factor VIII levels and bleeding according to factor 8 (F8) mutation in pregnant carriers of haemophilia A: a multicentre retrospective cohort study.

Collins AEI, Curry N, Raza-Burton S, Bignell P, Davies C, Joffe M, Shapiro S, Desborough MJR. Collins AEI, et al. Among authors: bignell p. Br J Haematol. 2021 Apr;193(2):397-400. doi: 10.1111/bjh.17254. Epub 2021 Mar 14. Br J Haematol. 2021. PMID: 33715149

8

Factor X deficiency associated with compound heterozygosity involving a novel missense mutation at codon 38 from Val (GTC) to Leu (CTC) in exon 2.

Eyre TA, Bignell P, Keeling D. Eyre TA, et al. Among authors: bignell p. Blood Coagul Fibrinolysis. 2015 Apr;26(3):352-3. doi: 10.1097/MBC.0000000000000265. Blood Coagul Fibrinolysis. 2015. PMID: 25803519 No abstract available.

9

Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction.

Bowen DJ, Thomas P, Webb CE, Bignell P, Peake IR, Bloom AL. Bowen DJ, et al. Among authors: bignell p. Br J Haematol. 1991 Apr;77(4):559-60. doi: 10.1111/j.1365-2141.1991.tb08626.x. Br J Haematol. 1991. PMID: 1673864 No abstract available.

10

Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence.

Standen GR, Bignell P, Bowen DJ, Peake IR, Bloom AL. Standen GR, et al. Among authors: bignell p. Br J Haematol. 1990 Oct;76(2):242-9. doi: 10.1111/j.1365-2141.1990.tb07879.x. Br J Haematol. 1990. PMID: 1982729

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