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Results: 1 to 20 of 98

1.

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.

Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, Fadhel NM, Sassolas A, Naceur SM.

Diagn Pathol. 2013 Apr 4;8:54. doi: 10.1186/1746-1596-8-54.

PMID:
23556456
[PubMed - in process]
Free PMC Article
2.

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.

Hammer MB, El Euch-Fayache G, Nehdi H, Feki M, Maamouri-Hicheri W, Hentati F, Amouri R.

J Clin Neurosci. 2014 Feb;21(2):311-5. doi: 10.1016/j.jocn.2013.04.016. Epub 2013 Oct 16.

PMID:
24139731
[PubMed - in process]
3.

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.

Najah M, Di Leo E, Awatef J, Magnolo L, Imene J, Pinotti E, Bahri M, Barsaoui S, Brini I, Fekih M, Slimane MN, Tarugi P.

Clin Chim Acta. 2009 Mar;401(1-2):51-6. doi: 10.1016/j.cca.2008.11.012. Epub 2008 Nov 21.

PMID:
19056372
[PubMed - indexed for MEDLINE]
4.

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P.

Gene. 2013 Jan 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117. Epub 2012 Oct 6.

PMID:
23043934
[PubMed - indexed for MEDLINE]
5.

Novel missense MTTP gene mutations causing abetalipoproteinemia.

Miller SA, Burnett JR, Leonis MA, McKnight CJ, van Bockxmeer FM, Hooper AJ.

Biochim Biophys Acta. 2014 Oct;1842(10):1548-54. doi: 10.1016/j.bbalip.2014.08.001. Epub 2014 Aug 6.

PMID:
25108285
[PubMed - in process]
6.

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P.

Atherosclerosis. 2005 Jun;180(2):311-8. Epub 2005 Jan 19.

PMID:
15910857
[PubMed - indexed for MEDLINE]
7.

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).

Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E.

Hum Mutat. 2011 Jul;32(7):751-9. doi: 10.1002/humu.21494. Epub 2011 Jun 14. Erratum in: Hum Mutat. 2011 Oct;32(10):1191-6.

PMID:
21394827
[PubMed - indexed for MEDLINE]
8.

Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

Raabe M, Flynn LM, Zlot CH, Wong JS, Véniant MM, Hamilton RL, Young SG.

Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8686-91.

PMID:
9671739
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.

Uslu N, Gürakan F, Yüce A, Demir H, Tarugi P.

Turk J Pediatr. 2010 Jan-Feb;52(1):73-7.

PMID:
20402070
[PubMed - indexed for MEDLINE]
Free Article
10.

Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, Shionoiri F, Iizuka Y, Tamura Y, Nagai R, Illingworth DR, Gotoda T, Yamada N.

J Lipid Res. 2000 Aug;41(8):1199-204.

PMID:
10946006
[PubMed - indexed for MEDLINE]
Free Article
11.

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW, et al.

Am J Hum Genet. 1995 Dec;57(6):1298-310.

PMID:
8533758
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

Di Filippo M, Créhalet H, Samson-Bouma ME, Bonnet V, Aggerbeck LP, Rabès JP, Gottrand F, Luc G, Bozon D, Sassolas A.

J Lipid Res. 2012 Mar;53(3):548-55. doi: 10.1194/jlr.M020024. Epub 2012 Jan 11.

PMID:
22236406
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

Lancellotti S, Di Leo E, Penacchioni JY, Balli F, Viola L, Bertolini S, Calandra S, Tarugi P.

Biochim Biophys Acta. 2004 Jan 20;1688(1):61-7.

PMID:
14732481
[PubMed - indexed for MEDLINE]
Free Article
14.

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Lee J, Hegele RA.

J Inherit Metab Dis. 2014 May;37(3):333-9. doi: 10.1007/s10545-013-9665-4. Epub 2013 Nov 28.

PMID:
24288038
[PubMed - in process]
15.

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.

Wang J, Hegele RA.

Hum Mutat. 2000 Mar;15(3):294-5.

PMID:
10679949
[PubMed - indexed for MEDLINE]
16.

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.

Vongsuvanh R, Hooper AJ, Coakley JC, Macdessi JS, O'Loughlin EV, Burnett JR, Gaskin KJ.

J Inherit Metab Dis. 2007 Nov;30(6):990. Epub 2007 Nov 21.

PMID:
18027103
[PubMed - indexed for MEDLINE]
17.

Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells.

Leiper JM, Bayliss JD, Pease RJ, Brett DJ, Scott J, Shoulders CC.

J Biol Chem. 1994 Sep 2;269(35):21951-4.

PMID:
8071315
[PubMed - indexed for MEDLINE]
Free Article
18.

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

Sani MN, Sabbaghian M, Mahjoob F, Cefalù AB, Averna MR, Rezaei N.

Ann Hepatol. 2011 Apr-Jun;10(2):221-6.

PMID:
21502686
[PubMed - indexed for MEDLINE]
19.

The molecular basis of abetalipoproteinemia.

Gregg RE, Wetterau JR.

Curr Opin Lipidol. 1994 Apr;5(2):81-6. Review.

PMID:
8044420
[PubMed - indexed for MEDLINE]
20.

First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.

Elmahmoudi H, Khodjet-el-khil H, Wigren E, Jlizi A, Zahra K, Pellechia D, Vinciguerra C, Meddeb B, Elggaaied AB, Gouider E.

Diagn Pathol. 2012 Aug 10;7:93. doi: 10.1186/1746-1596-7-93.

PMID:
22883072
[PubMed - indexed for MEDLINE]
Free PMC Article

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