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Results: 1 to 20 of 105

1.

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.

Martín-Morales R, García-Díaz JD, Tarugi P, González-Santos P, Saavedra-Vallejo P, Magnolo L, Mesa-Latorre JM, di Leo E, Valdivielso P.

Gene. 2013 Nov 15;531(1):92-6. doi: 10.1016/j.gene.2013.08.049. Epub 2013 Aug 31.

PMID:
24001780
[PubMed - indexed for MEDLINE]
2.

Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.

Martín-Campos JM, Roig R, Mayoral C, Martinez S, Martí G, Arroyo JA, Julve J, Blanco-Vaca F.

Clin Chim Acta. 2012 Mar 22;413(5-6):552-5. doi: 10.1016/j.cca.2011.11.020. Epub 2011 Nov 29.

PMID:
22155345
[PubMed - indexed for MEDLINE]
3.

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.

Whitfield AJ, Marais AD, Robertson K, Barrett PH, van Bockxmeer FM, Burnett JR.

Hum Mutat. 2003 Aug;22(2):178.

PMID:
12872264
[PubMed - indexed for MEDLINE]
4.

Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia.

Katsuda S, Kawashiri MA, Inazu A, Tada H, Tsuchida M, Kaneko Y, Nozue T, Nohara A, Okada T, Kobayashi J, Michishita I, Mabuchi H, Yamagishi M.

Clin Chim Acta. 2009 Jan;399(1-2):64-8. doi: 10.1016/j.cca.2008.09.021. Epub 2008 Sep 24.

PMID:
18848826
[PubMed - indexed for MEDLINE]
5.

Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.

Elias N, Patterson BW, Schonfeld G.

Arterioscler Thromb Vasc Biol. 1999 Nov;19(11):2714-21.

PMID:
10559016
[PubMed - indexed for MEDLINE]
Free Article
6.

A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).

Tarugi P, Lonardo A, Ballarini G, Erspamer L, Tondelli E, Bertolini S, Calandra S.

J Hepatol. 2000 Sep;33(3):361-70.

PMID:
11019990
[PubMed - indexed for MEDLINE]
7.

The hypobetalipoproteinemias.

Schonfeld G.

Annu Rev Nutr. 1995;15:23-34. Review.

PMID:
8527219
[PubMed - indexed for MEDLINE]
8.

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]
9.

Known mutations of apoB account for only a small minority of hypobetalipoproteinemia.

Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, Averna M, Schonfeld G.

J Lipid Res. 1999 May;40(5):955-9.

PMID:
10224165
[PubMed - indexed for MEDLINE]
Free Article
10.

Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.

Yue P, Isley WL, Harris WS, Rosipal S, Akin CD, Schonfeld G.

Atherosclerosis. 2005 Jan;178(1):107-13.

PMID:
15585207
[PubMed - indexed for MEDLINE]
11.

Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels.

Welty FK, Ordovas J, Schaefer EJ, Wilson PW, Young SG.

Circulation. 1995 Oct 15;92(8):2036-40.

PMID:
7554178
[PubMed - indexed for MEDLINE]
Free Article
12.

Familial hypobetalipoproteinemia: genetics and metabolism.

Schonfeld G, Lin X, Yue P.

Cell Mol Life Sci. 2005 Jun;62(12):1372-8. Review.

PMID:
15818469
[PubMed - indexed for MEDLINE]
13.

Postprandial lipemia in subjects with hypobetalipoproteinemia and a single intestinal allele for apoB-48.

Averna M, Seip RL, Mankowitz K, Schonfeld G.

J Lipid Res. 1993 Nov;34(11):1957-67.

PMID:
8263419
[PubMed - indexed for MEDLINE]
Free Article
14.

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.

Fouchier SW, Sankatsing RR, Peter J, Castillo S, Pocovi M, Alonso R, Kastelein JJ, Defesche JC.

J Med Genet. 2005 Apr;42(4):e23.

PMID:
15805152
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease.

Gutiérrez-Cirlos C, Ordóñez-Sánchez ML, Tusié-Luna MT, Patterson BW, Schonfeld G, Aguilar-Salinas CA.

Ann Hepatol. 2011 Apr-Jun;10(2):155-64.

PMID:
21502677
[PubMed - indexed for MEDLINE]
17.

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.

Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G.

Hum Mutat. 2002 Aug;20(2):110-6. Erratum in: Hum Mutat 2002 Nov;20(5):402.

PMID:
12124991
[PubMed - indexed for MEDLINE]
18.

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

Cariou B, Ouguerram K, Zaïr Y, Guerois R, Langhi C, Kourimate S, Benoit I, Le May C, Gayet C, Belabbas K, Dufernez F, Chétiveaux M, Tarugi P, Krempf M, Benlian P, Costet P.

Arterioscler Thromb Vasc Biol. 2009 Dec;29(12):2191-7. doi: 10.1161/ATVBAHA.109.194191. Epub 2009 Sep 17.

PMID:
19762784
[PubMed - indexed for MEDLINE]
Free Article
19.

Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova.

Gabelli C, Bilato C, Martini S, Tennyson GE, Zech LA, Corsini A, Albanese M, Brewer HB Jr, Crepaldi G, Baggio G.

Arterioscler Thromb Vasc Biol. 1996 Sep;16(9):1189-96.

PMID:
8792774
[PubMed - indexed for MEDLINE]
Free Article
20.

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