1 |
Congenital factor XIII deficiency: a commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'.
61
6
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Shinozawa K
|
21633364 |
2011 |
2 |
Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation.
6
61
|
Souri M...Ichinose A
|
11380452 |
2001 |
3 |
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.
6
61
|
Koseki S...Shitishima T
|
11313256 |
2001 |
4 |
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency.
61
6
|
Gomez Garcia EB...Bertina RM
|
11167856 |
2001 |
5 |
Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system.
61
6
|
Takahashi N...Ichinose A
|
9531593 |
1998 |
6 |
Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain.
6
61
|
Izumi T...Ichinose A
|
8639893 |
1996 |
7 |
Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast.
61
6
|
Coggan M...Board P
|
7727776 |
1995 |
8 |
Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits.
61
6
|
Castle S...Anderson RA
|
7236530 |
1981 |
9 |
Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency.
6
|
Wang W...Cai W
|
21512576 |
2011 |
10 |
The Arg703Trp missense mutation in F13A1 is a de novo event.
6
|
Anwar R...Langlois S
|
19438481 |
2009 |
11 |
Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion.
6
|
Birben E...Gurgey A
|
12100162 |
2002 |
12 |
Identification and characterization of two missense mutations causing factor XIIIA deficiency.
6
|
Kangsadalampai S...Board PG
|
10027709 |
1999 |
13 |
A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene.
6
|
Aslam S...Mandalaki T
|
9712293 |
1998 |
14 |
Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.
6
|
Mikkola H...Palotie A
|
8547636 |
1996 |
15 |
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.
6
|
Mikkola H...Palotie A
|
8025280 |
1994 |
16 |
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.
6
|
Standen GR...Bowen DJ
|
7918041 |
1993 |
17 |
Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.
6
|
Hashiguchi T...Ichinose A
|
8324218 |
1993 |
18 |
Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III.
6
|
Kamura T...Niho Y
|
1644910 |
1992 |
19 |
Identification of a point mutation in factor XIII A subunit deficiency.
6
|
Board P...Miloszewski K
|
1353995 |
1992 |
20 |
A familial factor XIII subunit B deficiency.
6
|
Saito M...Matsuda T
|
2334637 |
1990 |
21 |
Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.
61
54
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Ivaskevicius V...Oldenburg J
|
20179087 |
2010 |
22 |
Clinical audit of inherited bleeding disorders in a developing country.
61
54
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Sajid R...Khurshid M
|
20090222 |
2010 |
23 |
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent.
54
61
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Vijapurkar M...Ghosh K
|
18803553 |
2009 |
24 |
Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency.
61
54
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Akbalik M...Ozyurek E
|
17473580 |
2007 |
25 |
Clinical and prognostic role of plasma coagulation factor XIII activity for bleeding disorders and 6-year survival in patients with chronic liver disease.
61
54
|
Tacke F...Trautwein C
|
16448455 |
2006 |
26 |
[Molecular mechanisms of two novel mutations of factor XIII gene resulting in hereditary coagulation deficiency].
61
54
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Duan BH...Wang ZY
|
14720426 |
2003 |
27 |
Transjugular liver biopsy is safe and diagnostic for patients with congenital bleeding disorders and hepatitis C infection.
61
54
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DiMichele DM...Talal AH
|
14511303 |
2003 |
28 |
Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients.
54
61
|
Birben E...Gurgey A
|
12801297 |
2003 |
29 |
Rare inherited coagulation disorders in India.
61
54
|
Kashyap R...Choudhry VP
|
9283899 |
1996 |
30 |
Gynecological and obstetric outcome in the French cohort of women with factor XIII deficiency.
61
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Rugeri L...Meunier S
|
32360976 |
2020 |
31 |
Autoimmune factor XIII deficiency with unusual laboratory and clinical phenotype.
61
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Bovet J...Muszbek L
|
32311817 |
2020 |
32 |
Severe bleeding in a patient with Factor XIII deficiency and COVID-19.
61
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Quintavalle G...Tagliaferri A
|
32516478 |
2020 |
33 |
Concurrent hematoma and venous thrombosis in a patient with autoimmune acquired factor XIII deficiency.
61
|
Tang N...Yang J
|
31132215 |
2020 |
34 |
Factor XIII Deficiency in Western Afghanistan due to a Novel F13A Gene Mutation.
61
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Mousavi SH...Dorgalaleh A
|
31136071 |
2020 |
35 |
Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.
61
|
Moret A...Bonanad S
|
32060721 |
2020 |
36 |
Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.
61
|
Deng J...Hu Y
|
31914974 |
2020 |
37 |
Acquired Factor XIII Deficiency Inducing Recurrent and Fatal Bleeding, Description of a Case.
61
|
Di Micco P...Fontanella A
|
32099500 |
2020 |
38 |
Congenital factor XIII deficiency: comprehensive overview of the FranceCoag cohort.
61
|
Bouttefroy S...CoDeC study group
|
31414482 |
2020 |
39 |
Factor XIII deficiency does not prevent FeCl3-induced carotid artery thrombus formation in mice.
61
|
Tang Z...Wolberg AS
|
31989092 |
2020 |
40 |
Acquired factor XIII deficiency in two patients with bleeding events during veno-venous extracorporeal membrane oxygenation treatment.
61
|
Ito A...Imai H
|
31834529 |
2019 |
41 |
Expression and CpG island methylation pattern of MMP-2 and MMP-9 genes in patients with congenital factor XIII deficiency and intracranial hemorrhage.
61
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Noroozi-Aghideh A...Alizadeh S
|
31469059 |
2019 |
42 |
Factor XIII deficiency leading to preseptal haematoma post-strabismus surgery.
61
|
Jain M...Badakere A
|
31727636 |
2019 |
43 |
Congenital Factor XIII Deficiency With the Presence of Inhibitor: A Case Study.
61
|
Karaman S...Omer B
|
31764516 |
2019 |
44 |
Acute kidney injury is associated with low factor XIII in decompensated cirrhosis.
61
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Intagliata NM...Caldwell SH
|
30967339 |
2019 |
45 |
Benefits of thromboelastometry for monitoring replacement therapy in patients with severe inherited factor XIII deficiency: 3 illustrative cases.
61
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Bouttefroy S...Rugeri L
|
31361371 |
2019 |
46 |
Valproic Acid-Induced Coagulopathy.
61
|
Kumar R...Gedela S
|
31201069 |
2019 |
47 |
Penile prosthesis implant for primary erectile dysfunction in patient with Klippel-Trenaunay syndrome complicated by consumptive coagulopathy: A case report.
61
|
Bettocchi C...Battaglia M
|
31393387 |
2019 |
48 |
Factor XIII deficiency with intracranial haemorrhage.
61
|
Ejaz M...Tariq F
|
31451452 |
2019 |
49 |
Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.
61
|
Ma S...Ding Q
|
31340840 |
2019 |
50 |
Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations.
61
|
Mirakhorli M...Aala F
|
30578706 |
2019 |