These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

107 related articles for article (PubMed ID: 10807540)

  • 1. Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities.
    Wu LL; Hopkins PN; Xin Y; Stephenson SH; Williams RR; Nobe Y; Kajita M; Nakajima T; Emi M
    J Hum Genet; 2000; 45(3):154-8. PubMed ID: 10807540
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 10570905
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
    Hirayama T; Yamaki E; Hata A; Tsuji M; Hashimoto K; Yamamoto M; Emi M
    J Hum Genet; 1998; 43(4):250-4. PubMed ID: 9852677
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
    Takada D; Emi M; Ezura Y; Nobe Y; Kawamura K; Iino Y; Katayama Y; Xin Y; Wu LL; Larringa-Shum S; Stephenson SH; Hunt SC; Hopkins PN
    J Hum Genet; 2002; 47(12):656-64. PubMed ID: 12522687
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia.
    Ayyobi AF; McGladdery SH; McNeely MJ; Austin MA; Motulsky AG; Brunzell JD
    Arterioscler Thromb Vasc Biol; 2003 Jul; 23(7):1289-94. PubMed ID: 12750118
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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; 56(5):566-72. PubMed ID: 15497035
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
    Cheng XH; Zheng F; Zhou X; Xiong CL; Ding J; Chen YM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 120(19):1694-9. PubMed ID: 17935672
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
    Chen K; Mu YM; Wang BA; Guo QH; Lu ZH; Dou JT; Lu JM
    Metabolism; 2007 May; 56(5):636-40. PubMed ID: 17445538
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
    Guan X; Li M; Fan L; Chen Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):138-42. PubMed ID: 12673584
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hyperbetalipoproteinaemia and hyperalphalipoproteinaemia in a single family.
    Nye ER; Harding DR; Hancock WS; Janus ED
    N Z Med J; 1983 Feb; 96(725):85-8. PubMed ID: 6571965
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.
    Hattori H; Hirayama T; Nobe Y; Nagano M; Kujiraoka T; Egashira T; Ishii J; Tsuji M; Emi M
    J Hum Genet; 2002; 47(2):80-7. PubMed ID: 11916007
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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. PubMed ID: 14767901
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M; Hapizah MN; Khalid BA; Khalid Y; Rosli A; Jamal R
    Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Subclasses of low-density lipoprotein and very low-density lipoprotein in familial combined hyperlipidemia: relationship to multiple lipoprotein phenotype.
    Georgieva AM; van Greevenbroek MM; Krauss RM; Brouwers MC; Vermeulen VM; Robertus-Teunissen MG; van der Kallen CJ; de Bruin TW
    Arterioscler Thromb Vasc Biol; 2004 Apr; 24(4):744-9. PubMed ID: 14751815
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
    Saint-Jore B; Varret M; Dachet C; Rabès JP; Devillers M; Erlich D; Blanchard P; Krempf M; Mathé D; Chanu B; Jacotot B; Farnier M; Bonaïti-Péllié C; Junien C; Boileau C
    Eur J Hum Genet; 2000 Aug; 8(8):621-30. PubMed ID: 10952765
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
    Cefalù AB; Barraco G; Noto D; Valenti V; Barbagallo CM; Elisir GD; Cuniberti LA; Werba JP; Libra M; Costa S; Gianguzza F; Notarbartolo A; Travali S; Averna MR
    Int J Mol Med; 2006 Mar; 17(3):539-46. PubMed ID: 16465405
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Changes in serum lipoproteins in patients with ischemic heart disease at an early age].
    Malamov E; Kiriakov A; Tsenov I; Kavrukova Iu; Kusitasev G
    Vutr Boles; 1982; 21(2):91-8. PubMed ID: 7101895
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.