Tuddenham EG - Search Results

1

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Neerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EG. Neerman-Arbez M, et al. Among authors: tuddenham eg. Blood. 1999 Apr 1;93(7):2253-60. Blood. 1999. PMID: 10090934 Free article.

2

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D. Zhang B, et al. Among authors: tuddenham eg. Blood. 2006 Mar 1;107(5):1903-7. doi: 10.1182/blood-2005-09-3620. Epub 2005 Nov 22. Blood. 2006. PMID: 16304051 Free PMC article.

3

Molecular etiology of factor VIII deficiency in hemophilia A.

Antonarakis SE, Kazazian HH, Tuddenham EG. Antonarakis SE, et al. Among authors: tuddenham eg. Hum Mutat. 1995;5(1):1-22. doi: 10.1002/humu.1380050102. Hum Mutat. 1995. PMID: 7728145 Review.

4

The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103.

Neerman-Arbez M, Antonarakis SE, Blouin JL, Zeinali S, Akhtari M, Afshar Y, Tuddenham EG. Neerman-Arbez M, et al. Among authors: tuddenham eg. Am J Hum Genet. 1997 Jul;61(1):143-50. doi: 10.1086/513897. Am J Hum Genet. 1997. PMID: 9245995 Free PMC article.

5

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D. Zhang B, et al. Among authors: tuddenham eg. Blood. 2008 Jun 15;111(12):5592-600. doi: 10.1182/blood-2007-10-113951. Epub 2008 Apr 7. Blood. 2008. PMID: 18391077 Free PMC article.

6

Six point mutations that cause factor XI deficiency.

Pugh RE, McVey JH, Tuddenham EG, Hancock JF. Pugh RE, et al. Among authors: tuddenham eg. Blood. 1995 Mar 15;85(6):1509-16. Blood. 1995. PMID: 7888672 Free article.

7

Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency.

McVey JH, Boswell EJ, Takamiya O, Tamagnini G, Valente V, Fidalgo T, Layton M, Tuddenham EG. McVey JH, et al. Among authors: tuddenham eg. Blood. 1998 Aug 1;92(3):920-6. Blood. 1998. PMID: 9680360 Free article.

8

Analysis of the consequences of premature termination codons within factor VIII coding sequences.

David D, Santos IM, Johnson K, Tuddenham EG, McVey JH. David D, et al. Among authors: tuddenham eg. J Thromb Haemost. 2003 Jan;1(1):139-46. doi: 10.1046/j.1538-7836.2003.00013.x. J Thromb Haemost. 2003. PMID: 12871551 Free article.

9

Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male.

O'Brien DP, Gale KM, Anderson JS, McVey JH, Miller GJ, Meade TW, Tuddenham EG. O'Brien DP, et al. Among authors: tuddenham eg. Blood. 1991 Jul 1;78(1):132-40. Blood. 1991. PMID: 2070047 Free article.

10

Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles.

Kochhan L, Lalloz MR, Oldenburg J, McVey JH, Olek K, Brackmann HH, Tuddenham EG, Schwaab R. Kochhan L, et al. Among authors: tuddenham eg. Blood Coagul Fibrinolysis. 1994 Aug;5(4):497-501. Blood Coagul Fibrinolysis. 1994. PMID: 7841304

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