|
1
|
Mansouritorghabeh H: Clinical and
laboratory approaches to hemophilia a. Iran J Med Sci. 40:194–205.
2015.PubMed/NCBI
|
|
2
|
Paroskie A, Oso O, Almassi B, DeBaun MR
and Sidonio RF Jr: Both hemophilia health care providers and
hemophilia a carriers report that carriers have excessive bleeding.
J Pediatr Hematol Oncol. 36:e224–e230. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Dalm D, Galaz-Montoya JG, Miller JL,
Grushin K, Villalobos A, Koyfman AY, Schmid MF and Stoilova-McPhie
S: Dimeric organization of blood coagulation factor VIII bound to
lipid nanotubes. Sci Rep. 5:112122015. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Karaman K, Akbayram S, Garipardıç M and
Öner AF: Diagnostic evaluation of our patients with hemophilia A:
17-year experience. Turk Pediatri Ars. 50:96–101. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Shastry SP, Kaul R, Baroudi K and Umar D:
Hemophilia A: Dental considerations and management. J Int Soc Prev
Community Dent. 4(Suppl 3): S147–S152. 2014.PubMed/NCBI
|
|
6
|
Zhou ZY, Koerper MA, Johnson KA, Riske B,
Baker JR, Ullman M, Curtis RG, Poon JL, Lou M and Nichol MB: Burden
of illness: Direct and indirect costs among persons with hemophilia
A in the United States. J Med Econ. 18:457–465. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Lheriteau E, Davidoff AM and Nathwani AC:
Haemophilia gene therapy: Progress and challenges. Blood Rev.
29:321–328. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Pezeshkpoor B, Pavlova A, Oldenburg J and
El-Maarri O: F8 genetic analysis strategies when standard
approaches fail. Hamostaseologie. 34:167–173. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Radic CP, Rossetti LC, Abelleyro MM,
Tetzlaff T, Candela M, Neme D, Sciuccati G, Bonduel M,
Medina-Acosta E, Larripa IB, et al: Phenotype-genotype correlations
in hemophilia A carriers are consistent with the binary role of the
phase between F8 and X-chromosome inactivation. J Thromb Haemost.
13:530–539. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Roualdes O, Nougier C, Fretigny M,
Talagrand E, Durand B, Negrier C and Vinciguerra C: Usefulness of
an in vitro cellular expression model for haemophilia A carrier
diagnosis: Illustration with five novel mutations in the F8 gene in
women with isolated factor VIII:C deficiency. Haemophilia.
21:e202–209. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Qiao SK, Ren HY, Ren JH and Guo XN:
Compound heterozygous hemophilia A in a female patient and the
identification of a novel missense mutation, p.Met1093Ile. Mol Med
Rep. 9:466–470. 2014.PubMed/NCBI
|
|
12
|
Gurjar V and Gurjar M: Consanguineous
marital union resulting in a progeny of whistling-face syndrome and
hemophilia: A case report. J Int Oral Health. 7:78–80.
2015.PubMed/NCBI
|
|
13
|
Zheng J, Ma W, Xie B, Zhu M, Zhang C, Li
J, Wang Y, Wang M and Jin Y: Severe female hemophilia A patient
caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with
skewed X-chromosome inactivation. Blood Coagul Fibrinolysis.
26:977–978. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Gitschier J, Wood WI, Goralka TM, Wion KL,
Chen EY, Eaton DH, Vehar GA, Capon DJ and Lawn RM: Characterization
of the human factor VIII gene. Nature. 312:326–330. 1984.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Kumar P, Husain N, Soni P, Faridi NJ and
Goel SK: New protocol for detection of intron 22 inversion mutation
from cases with hemophilia A. Clin Appl Thromb Hemost. 21:255–259.
2015. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Odnoczko E, Stefańska-Windyga E, Baran B,
Górska-Kosicka M, Sowińska I, Bykowska K and Windyga J: Detection
of inversion mutations (INV22 and INV1) in F8 gene using IS-PCR
method in Polish patients with severe hemophilia A. Acta Haematol
Pol. 46:372–377. 2015. View Article : Google Scholar
|
|
17
|
Edyta Odnoczko JW: Genetic testing in
hemophilia A diagnostic. Hematologia. 5:193–202. 2014.
|
|
18
|
Sawecka J, Skulimowska J, Windyga J and
Koscielak J: Inversion of intron 1 of factor VIII gene in patients
with severe hemophilia A. Acta Haematologica Polonica. 37:61–65.
2006.
|
|
19
|
Bugvi SM, Imran M, Mahmood S, Hafeez R,
Fatima W and Sohail S: Screening of intron 1 inversion and three
intragenic factor VIII gene polymorphisms in Pakistani hemophilia A
families. Blood Coagul Fibrinolysis. 23:132–137. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Jayandharan GR and Srivastava A and
Srivastava A: Role of molecular genetics in hemophilia: From
diagnosis to therapy. Semin Thromb Hemost. 38:64–78. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Kessler L, Adams R, Mighion L, Walther S
and Ganguly A: Prenatal diagnosis in haemophilia A: Experience of
the genetic diagnostic laboratory. Haemophilia. 20:e384–391. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Moharrami T, Derakhshan SM, Pourfeizi AA
and Khaniani MS: Detection of hemophilia a carriers in Azeri
Turkish population of Iran: usefulness of HindIII and BclI markers.
Clin Appl Thromb Hemost. 21:755–759. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Rong Y, Gao J, Jiang X and Zheng F:
Multiplex PCR for 17 Y-chromosome Specific Short Tandem Repeats
(STR) to enhance the reliability of fetal sex determination in
maternal plasma. Int J Mol Sci. 13:5972–5981. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Sidonio RF, Mili FD, Li T, Miller CH,
Hooper WC, DeBaun MR and Soucie M: Hemophilia Treatment Centers
Network: Females with FVIII and FIX deficiency have reduced joint
range of motion. Am J Hematol. 89:831–836. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Saxena R and Ranjan R: Prenatal Diagnosis
of Hemophilia A and B. J Mol Biol & Mol Imaging. 1:1–6.
2014.
|
|
26
|
Ding QL, Lu YL, Dai J, Xi XD, Wang XF and
Wang HL: Characterisation and validation of a novel panel of the
six short tandem repeats for genetic counselling in Chinese
haemophilia A pedigrees. Haemophilia. 18:621–625. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Klopp N, Oldenburg J, Uen C, Schneppenheim
R and Graw J: 11 hemophilia A patients without mutations in the
factor VIII encoding gene. Thromb Haemost. 88:357–360.
2002.PubMed/NCBI
|
|
28
|
Li SY, Ma XY, Zhang HM, Wang XM and Li Q:
A multifluorescent STR-PCR for prenatal gene diagnosis of
hemophilia A carriers. J Pract Med. 27:20502011.
|
|
29
|
Bors A, Andrikovics H, Illés Z, Jáger R,
Kardos M, Marosi A, Nemes L and Tordai A: Carrier and prenatal
diagnostic strategy and newly identified mutations in Hungarian
haemophilia A and B families. Blood Coagul Fibrinolysis.
26:161–166. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Liang Y, Zhao Y, Yan M, Fan XP, Xiao B and
Liu JZ: Prenatal diagnosis of haemophilia A in China. Prenat Diagn.
29:664–667. 2009. View
Article : Google Scholar : PubMed/NCBI
|
|
31
|
de Carvalho FM, de Vargas Wolfgramm E,
Paneto GG, de Paula Careta F, Spagnol Perrone AM, de Paula F and
Louro ID: Analysis of factor VIII polymorphic markers as a means
for carrier detection in Brazilian families with haemophilia A.
Haemophilia. 13:409–412. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Sun P, Ma L, Diao G, Li CQ and Lin FZ:
Application of indirect linkage analysis and direct genotyping to
hemophilia A carrier detection in Sichuan, China. Genet Mol Res.
14:8229–8235. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Rabbani B, Rezaeian A, Khanahmad H,
Bagheri R, Kamali E and Zeinali S: Analysing two dinucleotide
repeats of FVIII gene in Iranian population. Haemophilia.
13:740–744. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Dai J, Lu Y, Ding Q, Wang H, Xi X and Wang
X: The status of carrier and prenatal diagnosis of haemophilia in
China. Haemophilia. 18:235–240. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Fang Y, Wang XF, Dai J and Wang HL: A
rapid multifluorescent polymerase chain reaction for genetic
counselling in Chinese haemophilia A families. Haemophilia.
12:62–67. 2006. View Article : Google Scholar : PubMed/NCBI
|
