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Results: 1 to 20 of 92

Similar articles for PubMed (Select 19846172)

1.

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

Cefalù AB, Calvo PL, Noto D, Baldi M, Valenti V, Lerro P, Tramuto F, Lezo A, Morra I, Cenacchi G, Barbera C, Averna MR.

Metabolism. 2010 Apr;59(4):463-7. doi: 10.1016/j.metabol.2009.07.042. Epub 2009 Oct 20.

PMID:
19846172
2.

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.

Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP.

Orphanet J Rare Dis. 2011 Nov 21;6:78. doi: 10.1186/1750-1172-6-78.

3.

Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.

Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué JM, Walker F, Schmitz J, Lachaux A, Aggerbeck LP, Samson-Bouma ME.

Clin Genet. 2008 Dec;74(6):546-52. doi: 10.1111/j.1399-0004.2008.01069.x. Epub 2008 Sep 11.

PMID:
18786134
4.

Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

Charcosset M, Sassolas A, Peretti N, Roy CC, Deslandres C, Sinnett D, Levy E, Lachaux A.

Mol Genet Metab. 2008 Jan;93(1):74-84. Epub 2007 Oct 22.

PMID:
17945526
5.

Chylomicron retention disease: report of two cases from a Greek Island.

Papadogeorgou P, Roma E, Sassolas A, Orfanou I, Malliarou A, Sakka S, Chouliaras G.

J Pediatr Endocrinol Metab. 2012;25(11-12):1191-4. doi: 10.1515/jpem-2012-0243.

PMID:
23329770
6.

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.

Annesi G, Aguglia U, Tarantino P, Annesi F, De Marco EV, Civitelli D, Torroni A, Quattrone A.

Clin Genet. 2007 Mar;71(3):288-9. No abstract available.

PMID:
17309654
7.

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
8.

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, Pugnet-Chardon L, Moulin P, Labarge S, Bouthillier L, Lachaux A, Levy E; Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1; Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal.

Orphanet J Rare Dis. 2010 Sep 29;5:24. doi: 10.1186/1750-1172-5-24. Review.

9.

Chylomicron retention disease: a long term study of two cohorts.

Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, Seidman E, Brochu P, Vohl MC, Labarge S, Bouvier R, Samson-Bouma ME, Charcosset M, Lachaux A, Levy E.

Mol Genet Metab. 2009 Jun;97(2):136-42. doi: 10.1016/j.ymgme.2009.02.003. Epub 2009 Feb 20.

PMID:
19285442
10.

The intracellular transport of chylomicrons requires the small GTPase, Sar1b.

Shoulders CC, Stephens DJ, Jones B.

Curr Opin Lipidol. 2004 Apr;15(2):191-7. Review.

PMID:
15017362
11.

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC.

Nat Genet. 2003 May;34(1):29-31.

PMID:
12692552
12.

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.

Salemi S, Besson A, Eblé A, Gallati S, Pfäffle RW, Mullis PE.

Growth Horm IGF Res. 2003 Oct;13(5):264-8.

PMID:
12932747
13.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

14.

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

Lofrano-Porto A, Barra GB, Nascimento PP, Costa PG, Garcia EC, Vaz RF, Batista AR, Freitas AC, Cherulli BL, Bahmad F Jr, Figueiredo LG, Neves FA, Casulari LA.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1296-303.

15.

Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes.

Dannoura AH, Berriot-Varoqueaux N, Amati P, Abadie V, Verthier N, Schmitz J, Wetterau JR, Samson-Bouma ME, Aggerbeck LP.

Arterioscler Thromb Vasc Biol. 1999 Oct;19(10):2494-508.

16.

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.

Wang D, Wu B, Li Y, Heng W, Zhong H, Mu Y, Wang J.

J Hum Genet. 2001;46(3):152-4.

PMID:
11310584
17.

Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

Gutnisky VJ, Moya CM, Rivolta CM, Domené S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM.

J Clin Endocrinol Metab. 2004 Feb;89(2):646-57.

PMID:
14764776
18.

Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease.

Levy E, Marcel Y, Deckelbaum RJ, Milne R, Lepage G, Seidman E, Bendayan M, Roy CC.

J Lipid Res. 1987 Nov;28(11):1263-74. Erratum in: J Lipid Res 1988 Jan;29(1):119.

19.

Chylomicron retention disease.

Desaldeleer C, Henno S, Bruneau B, Dabadie A.

Dig Liver Dis. 2013 Feb;45(2):e3. doi: 10.1016/j.dld.2012.08.003. Epub 2012 Sep 5. No abstract available.

PMID:
22959141
20.

Signposts in the assembly of chylomicrons.

Hussain MM, Kedees MH, Singh K, Athar H, Jamali NZ.

Front Biosci. 2001 Mar 1;6:D320-31. Review.

PMID:
11229873
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