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Items: 1 to 20 of 278

1.

A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.

Hinks JL, Winship PR, Makris M, Preston FE, Peake IR, Goodeve AC.

Br J Haematol. 1999 Mar;104(4):915-8.

PMID:
10192459
2.

Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis.

Poon MC, Anand S, Fraser BM, Hoar DI, Sinclair GD.

J Lab Clin Med. 1993 Jul;122(1):55-63. Erratum in: J Lab Clin Med 1994 Jan;123(1):15.

PMID:
8320491
3.

Molecular genotyping of the Italian cohort of patients with hemophilia B.

Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G, Tagariello G; AICE HB Study Group.

Haematologica. 2005 May;90(5):635-42.

4.

Detection of known haemophilia B mutations and carrier testing by microarray.

Chan K, Sasanakul W, Mellars G, Chuansumrit A, Perry D, Lee CA, Wong MS, Chan TK, Chan V.

Thromb Haemost. 2005 Oct;94(4):872-8.

PMID:
16270645
5.

Spectrum of factor IX gene mutations causing haemophilia B from India.

Ghosh K, Quadros L, Shetty S.

Blood Coagul Fibrinolysis. 2009 Jul;20(5):333-6. doi: 10.1097/MBC.0b013e32832b27d1.

PMID:
19357501
6.

Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.

Chen SH, Schoof JM, Weinmann AF, Thompson AR.

Br J Haematol. 1995 Feb;89(2):409-12.

PMID:
7873393
7.
8.

Mutation analysis impact on the genetic counseling of sporadic hemophilia B families.

Bicocchi MP, Pasino M, Bottini F, Lanza T, Mori PG, Acquila M.

Am J Med Genet A. 2003 May 1;118A(4):328-31.

PMID:
12687663
9.

[Application studies on the gene diagnosis and carrier detection of hemophilia A by using polymerase chain reaction-conformation sensitive gel electrophoresis].

Lillicrap D, He GP, Leggo J, Liu YS, Tong XH, Zhou GX, Luo LH.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):393-9. Chinese.

PMID:
20017302
10.

A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis.

Arancha C, Ruíz-Llorente S, Cascón A, Osorio A, Martínez-Delgado B, Benítez J, Robledo M.

J Hum Genet. 2002;47(4):190-5.

PMID:
12166655
11.

New FACTOR IX linked marker alleles in African Haemophilia B patients.

Mitchell C, Mitchell CL, Krause A.

Haemophilia. 2007 Sep;13(5):642-4.

PMID:
17880456
12.
13.

Direct carrier testing of haemophilia B by SSCP.

Martinez PA, Romey MC, Schved JF, Gris JC, Demaille J, Claustres M.

Clin Lab Haematol. 1994 Mar;16(1):15-20.

PMID:
7913672
14.

Analysis of haemophilia B database and strategies for identification of common point mutations in the factor IX gene.

Mukherjee S, Mukhopadhyay A, Chaudhuri K, Ray K.

Haemophilia. 2003 Mar;9(2):187-92.

PMID:
12614370
15.

Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.

Vidal F, Farssac E, Altisent C, Puig L, Gallardo D.

Br J Haematol. 2000 Nov;111(2):549-51.

PMID:
11122099
16.

Genetic basis and carrier detection of hemophilia B of Chinese origin.

Lin SW, Shen MC.

Thromb Haemost. 1993 Mar 1;69(3):247-52.

PMID:
8470048
17.

Carrier testing and prenatal diagnosis of haemophilia B by SSCP in an Iranian family.

Karimipoor M, Zeinali S, Lak M, Safaee R.

Haemophilia. 2003 Jan;9(1):116-8.

PMID:
12558788
18.

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.

Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C.

Thromb Haemost. 1999 Nov;82(5):1437-42.

PMID:
10595634
19.

Heteroduplex analysis in hemophilia B: detection of two novel factor IX gene mutations.

Driscoll MC, Chu A, Hilgartner MW.

Am J Hematol. 1996 Apr;51(4):324-7.

20.

Carrier detection of haemophilia B by using an intragenic restriction-fragment length polymorphism.

Bröcker-Vriends AH, Briët E, Quadt R, Bertina RM, van der Linden IK, van de Kamp JJ, Pearson PL, Veltkamp JJ.

Thromb Haemost. 1985 Aug 30;54(2):506-9.

PMID:
3001965

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