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Results: 1 to 20 of 121

1.

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

Ahmed W, Ajmal M, Sadeque A, Whittall RA, Rafiq S, Putt W, Khawaja A, Imtiaz F, Ahmed N, Azam M, Humphries SE, Qamar R.

Mol Biol Rep. 2012 Jul;39(7):7365-72. doi: 10.1007/s11033-012-1568-1. Epub 2012 Feb 7.

PMID:
22311046
[PubMed - indexed for MEDLINE]
2.

Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.

Ajmal M, Ahmed W, Sadeque A, Ali SH, Bokhari SH, Ahmed N, Qamar R.

Mol Biol Rep. 2010 Dec;37(8):3869-75. doi: 10.1007/s11033-010-0043-0. Epub 2010 Mar 10.

PMID:
20217239
[PubMed - indexed for MEDLINE]
3.

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Ahmed W, Whittall R, Riaz M, Ajmal M, Sadeque A, Ayub H, Qamar R, Humphries SE.

Clin Chim Acta. 2013 Jun 5;421:219-25. doi: 10.1016/j.cca.2013.03.017. Epub 2013 Mar 25.

PMID:
23535506
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.

Xie L, Gong QH, Xie ZG, Liang ZM, Hu ZM, Xia K, Xia JH, Yang YF.

Chin Med J (Engl). 2007 Oct 5;120(19):1694-9.

PMID:
17935672
[PubMed - indexed for MEDLINE]
Free Article
5.

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
[PubMed - indexed for MEDLINE]
6.

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

Jelassi A, Jguirim I, Najah M, Abid AM, Boughamoura L, Maatouk F, Rouis M, Boileau C, Rabès JP, Slimane MN, Varret M.

Atherosclerosis. 2009 Apr;203(2):449-53. doi: 10.1016/j.atherosclerosis.2008.07.011. Epub 2008 Jul 23.

PMID:
18757057
[PubMed - indexed for MEDLINE]
7.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
[PubMed - indexed for MEDLINE]
8.

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocoví M.

Hum Mutat. 2004 Aug;24(2):187.

PMID:
15241806
[PubMed - indexed for MEDLINE]
9.

[Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].

Liu YR, Tao QM, Chen JZ, Tao M, Guo XG, Shang YP, Zhu JH, Zhang FR, Zheng LR, Wang XX.

Sheng Li Xue Bao. 2004 Oct 25;56(5):566-72. Chinese.

PMID:
15497035
[PubMed - indexed for MEDLINE]
Free Article
10.

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.

Lee WK, Haddad L, Macleod MJ, Dorrance AM, Wilson DJ, Gaffney D, Dominiczak MH, Packard CJ, Day IN, Humphries SE, Dominiczak AF.

J Med Genet. 1998 Jul;35(7):573-8.

PMID:
9678702
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.

Hopkins PN, Wu LL, Stephenson SH, Xin Y, Katsumata H, Nobe Y, Nakajima T, Hirayama T, Emi M, Williams RR.

J Hum Genet. 1999;44(6):364-7.

PMID:
10570905
[PubMed - indexed for MEDLINE]
12.

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

Diakou M, Miltiadous G, Xenophontos SL, Manoli P, Cariolou MA, Elisaf M.

Eur J Intern Med. 2011 Oct;22(5):e55-9. doi: 10.1016/j.ejim.2011.01.003. Epub 2011 Feb 11.

PMID:
21925044
[PubMed - indexed for MEDLINE]
13.

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

Wang J, Huff E, Janecka L, Hegele RA.

Hum Mutat. 2001 Oct;18(4):359.

PMID:
11668627
[PubMed - indexed for MEDLINE]
14.

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Al-Khateeb A, Zahri MK, Mohamed MS, Sasongko TH, Ibrahim S, Yusof Z, Zilfalil BA.

BMC Med Genet. 2011 Mar 19;12:40. doi: 10.1186/1471-2350-12-40.

PMID:
21418584
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.

Shawar SM, Al-Drees MA, Ramadan AR, Ali NH, Alfadhli SM.

Atherosclerosis. 2012 Feb;220(2):429-36. doi: 10.1016/j.atherosclerosis.2011.10.045. Epub 2011 Nov 9.

PMID:
22129472
[PubMed - indexed for MEDLINE]
16.

Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.

Cheng X, Ding J, Zheng F, Zhou X, Xiong C.

Mol Biol Rep. 2009 Nov;36(8):2053-7. doi: 10.1007/s11033-008-9416-z. Epub 2008 Nov 20.

PMID:
19020990
[PubMed - indexed for MEDLINE]
17.

Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.

Arráiz N, Bermúdez V, Rondon N, Reyes F, Borjas L, Solís E, Mujica E, Prieto C, Reyna N, Velasco M.

Am J Ther. 2010 May-Jun;17(3):325-9. doi: 10.1097/MJT.0b013e3181c1234d.

PMID:
20019594
[PubMed - indexed for MEDLINE]
18.

[Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].

Lin J, Wang LY, Liu S, Pan XD, Du LP, Shi FR, Qin YW, Zhao Q, Guo HY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):14-8. Chinese.

PMID:
14767901
[PubMed - indexed for MEDLINE]
19.

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

Langenhoven E, Warnich L, Thiart R, Rubinsztein DC, van der Westhuyzen DR, Marais AD, Kotze MJ.

Atherosclerosis. 1996 Aug 23;125(1):111-9.

PMID:
8831933
[PubMed - indexed for MEDLINE]
20.

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

Snozek CL, Lagerstedt SA, Khoo TK, Rubenfire M, Isley WL, Train LJ, Baudhuin LM.

Eur J Hum Genet. 2009 Jan;17(1):85-90. doi: 10.1038/ejhg.2008.138. Epub 2008 Jul 23.

PMID:
18648394
[PubMed - indexed for MEDLINE]
Free PMC Article

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