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2. 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. PubMed ID: 18848826 [TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 10559016 [TBL] [Abstract][Full Text] [Related]
4. [Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature]. Zhang YQ; Wang JS Zhonghua Er Ke Za Zhi; 2023 Jan; 61(1):70-75. PubMed ID: 36594125 [No Abstract] [Full Text] [Related]
5. Familial hypobetalipoproteinemia: genetics and metabolism. Schonfeld G; Lin X; Yue P Cell Mol Life Sci; 2005 Jun; 62(12):1372-8. PubMed ID: 15818469 [TBL] [Abstract][Full Text] [Related]
6. 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; Crepaldi G; Baggio G Arterioscler Thromb Vasc Biol; 1996 Sep; 16(9):1189-96. PubMed ID: 8792774 [TBL] [Abstract][Full Text] [Related]
7. Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review. Rodríguez de Vera-Gómez P; Del Pino-Bellido P; García-González JJ; Sánchez-Jiménez F; Oliva-Rodríguez R; Arrobas-Velilla T; Martínez-Brocca MA J Clin Lipidol; 2022; 16(5):601-607. PubMed ID: 35918255 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 12872264 [TBL] [Abstract][Full Text] [Related]
9. Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. Cefalù AB; Norata GD; Ghiglioni DG; Noto D; Uboldi P; Garlaschelli K; Baragetti A; Spina R; Valenti V; Pederiva C; Riva E; Terracciano L; Zoja A; Grigore L; Averna MR; Catapano AL Atherosclerosis; 2015 Mar; 239(1):209-17. PubMed ID: 25618028 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15585207 [TBL] [Abstract][Full Text] [Related]
11. Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. Yilmaz BS; Mungan NO; Di Leo E; Magnolo L; Artuso L; Bernardis I; Tumgor G; Kor D; Tarugi P Clin Chim Acta; 2016 Jan; 452():185-90. PubMed ID: 26612772 [TBL] [Abstract][Full Text] [Related]
13. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. Di Leo E; Magnolo L; Bertolotti M; Bourbon M; Carmo Pereira S; Pirisi M; Calandra S; Tarugi P Clin Genet; 2008 Sep; 74(3):267-73. PubMed ID: 18492086 [TBL] [Abstract][Full Text] [Related]
14. Apoprotein B-100 production is decreased in subjects heterozygous for truncations of apoprotein B. Aguilar-Salinas CA; Barrett PH; Parhofer KG; Young SG; Tessereau D; Bateman J; Quinn C; Schonfeld G Arterioscler Thromb Vasc Biol; 1995 Jan; 15(1):71-80. PubMed ID: 7749818 [TBL] [Abstract][Full Text] [Related]
15. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Tarugi P; Averna M; Di Leo E; Cefalù AB; Noto D; Magnolo L; Cattin L; Bertolini S; Calandra S Atherosclerosis; 2007 Dec; 195(2):e19-27. PubMed ID: 17570373 [TBL] [Abstract][Full Text] [Related]
16. Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. Rimbert A; Pichelin M; Lecointe S; Marrec M; Le Scouarnec S; Barrak E; Croyal M; Krempf M; Le Marec H; Redon R; Schott JJ; Magré J; Cariou B Atherosclerosis; 2016 Jul; 250():52-6. PubMed ID: 27179706 [TBL] [Abstract][Full Text] [Related]
17. Absence of fatty liver in familial hypobetalipoproteinemia linked to chromosome 3p21. Yue P; Tanoli T; Wilhelm O; Patterson B; Yablonskiy D; Schonfeld G Metabolism; 2005 May; 54(5):682-8. PubMed ID: 15877300 [TBL] [Abstract][Full Text] [Related]
18. 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; 531(1):92-6. PubMed ID: 24001780 [TBL] [Abstract][Full Text] [Related]
19. 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; 10(2):155-64. PubMed ID: 21502677 [TBL] [Abstract][Full Text] [Related]
20. In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia. Rabacchi C; Simone ML; Pisciotta L; Di Leo E; Bocchi D; Pietrangelo A; D'Addato S; Bertolini S; Calandra S; Tarugi P J Clin Lipidol; 2019; 13(6):960-969. PubMed ID: 31629702 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]