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Items: 1 to 20 of 167

1.

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.

Jourdy Y, Chatron N, Carage ML, Fretigny M, Meunier S, Zawadzki C, Gay V, Negrier C, Sanlaville D, Vinciguerra C.

J Thromb Haemost. 2016 Oct;14(10):1988-1993. doi: 10.1111/jth.13430. Epub 2016 Sep 17.

2.

Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.

Stoof SCM, Kersseboom R, de Vries FAT, Kruip MJHA, Kievit AJA, Leebeek FWG.

Mol Genet Genomic Med. 2018 Nov;6(6):1220-1224. doi: 10.1002/mgg3.425. Epub 2018 Sep 27.

3.

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Radic CP, Rossetti LC, Abelleyro MM, Candela M, Pérez Bianco R, de Tezanos Pinto M, Larripa IB, Goodeve A, De Brasi C.

Thromb Haemost. 2013 Jan;109(1):24-33. doi: 10.1160/TH12-05-0302. Epub 2012 Oct 23.

4.

Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B.

Wu X, Lu Y, Ding Q, You G, Dai J, Xi X, Wang H, Wang X.

Thromb Haemost. 2014 Sep 2;112(3):459-65. doi: 10.1160/TH13-12-1060. Epub 2014 May 8.

PMID:
24816826
5.

Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

Kwon MJ, Yoo KY, Kim HJ, Kim SH.

Haemophilia. 2008 Sep;14(5):1069-75. doi: 10.1111/j.1365-2516.2008.01796.x. Epub 2008 Jul 8.

PMID:
18624698
6.

Distinct X chromosomal rearrangements in four haemophilia B patients with entire F9 deletion.

Nakamura Y, Ando Y, Takagi Y, Murata M, Kozuka T, Nakata Y, Hasebe R, Takagi A, Matsushita T, Shima M, Kojima T.

Haemophilia. 2016 May;22(3):433-9. doi: 10.1111/hae.12849. Epub 2015 Dec 21.

PMID:
26686734
7.

[Carrier diagnosis of F9 gross deletion by multiple ligation-dependent probe amplification in hemophilia B].

Chen X, Liang Y, Yan M, Liu JZ.

Zhonghua Xue Ye Xue Za Zhi. 2012 Dec;33(12):1038-41. Chinese.

PMID:
23363799
8.

SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.

Alatzoglou KS, Azriyanti A, Rogers N, Ryan F, Curry N, Noakes C, Bignell P, Hall GW, Littooij AS, Saunders D, Thomas P, Stewart H, Dattani MT.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2702-8. doi: 10.1210/jc.2014-1160.

PMID:
25140394
9.

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.

10.

Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.

Guo ZP, Yang LH, Qin XY, Liu XE, Chen JF, Zhang YF.

Haemophilia. 2014 Nov;20(6):859-65. doi: 10.1111/hae.12534. Epub 2014 Sep 23.

PMID:
25251685
11.

Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene.

Venceslá A, Barceló MJ, Baena M, Quintana M, Baiget M, Tizzano EF.

Haematologica. 2007 Nov;92(11):1583-4.

12.

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC, Gregg RG.

PLoS One. 2010 Aug 31;5(8):e12349. doi: 10.1371/journal.pone.0012349.

13.

Risk factors associated with inhibitor development in Chinese patients with haemophilia B.

Zhou J, Ding Q, Chen Z, Yang H, Lin L, Wang H, Wang X, Wu R.

Haemophilia. 2015 Jul;21(4):e286-93. doi: 10.1111/hae.12684. Epub 2015 Apr 30.

PMID:
25929987
14.

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.

Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24.

PMID:
23711909
15.

A genetic analysis of 23 Chinese patients with hemophilia B.

Wang QY, Hu B, Liu H, Tang L, Zeng W, Wu YY, Cheng ZP, Hu Y.

Sci Rep. 2016 Apr 25;6:25024. doi: 10.1038/srep25024.

16.

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

Palumbo O, Fichera M, Palumbo P, Rizzo R, Mazzolla E, Cocuzza DM, Carella M, Mattina T.

Am J Med Genet A. 2014 Mar;164A(3):828-33. doi: 10.1002/ajmg.a.36363. Epub 2014 Jan 23.

PMID:
24458984
17.

Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

Khan MTM, Naz A, Ahmed J, Shamsi T, Ahmed S, Ahmed N, Imran A, Farooq N, Khan MTH, Taj AS.

Clin Appl Thromb Hemost. 2018 Jul;24(5):741-748. doi: 10.1177/1076029617721011. Epub 2017 Jul 28.

18.

The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.

Lu Y, Wu X, Dai J, Ding Q, Wu W, Wang X.

Haemophilia. 2019 Mar;25(2):316-323. doi: 10.1111/hae.13681. Epub 2019 Jan 16.

PMID:
30648777
19.

Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.

Yu T, Dai J, Liu H, Ding Q, Lu Y, Wang H, Wang X, Fu Q.

Pathology. 2012 Jun;44(4):342-7. doi: 10.1097/PAT.0b013e328353443d.

PMID:
22544209
20.

The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.

Rydz N, Leggo J, Tinlin S, James P, Lillicrap D.

Am J Hematol. 2013 Dec;88(12):1030-4. doi: 10.1002/ajh.23557. Epub 2013 Sep 9. Review. Erratum in: Am J Hematol. 2014 Jun;89(6):669. Natalia, Rydz [corrected to Rydz, Natalia]; Jayne, Leggo [corrected to Leggo, Jayne]; Shawn, Tinlin [corrected to Tinlin, Shawn]; Paula, James [corrected to James, Paula]; David, Lillicrap [corrected to Lillicrap, David].

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