Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 10 (of 10 Records) |
| Query Trace: Familial Hypobetalipoproteinemia[original query] |
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| The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population. Human mutation 2006 May 27 (5): 460-6. Yue Pin, Averna Maurizio, Lin Xiaobo, Schonfeld Gust |
| Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia. Journal of clinical lipidology 0 10 (3): 604-9. Miller Sharon A, Hooper Amanda J, Mantiri George A, Marais David, Tanyanyiwa Donald M, McKnight James, Burnett John |
| Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. Atherosclerosis 2016 Apr 250 52-56. Rimbert Antoine, Pichelin Matthieu, Lecointe Simon, Marrec Marie, Le Scouarnec Solena, Barrak Elias, Croyal Mikael, Krempf Michel, Le Marec Hervé, Redon Richard, Schott Jean-Jacques, Magré Jocelyne, Cariou Bertra |
| Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. Journal of clinical lipidology 2017 7 11 (5): 1234-1242. Di Costanzo Alessia, Di Leo Enza, Noto Davide, Cefalù Angelo Baldassare, Minicocci Ilenia, Polito Luca, D'Erasmo Laura, Cantisani Vito, Spina Rossella, Tarugi Patrizia, Averna Maurizio, Arca Marcel |
| Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease. Circulation. Genomic and precision medicine 2019 Apr . Peloso Gina M, Nomura Akihiro, Khera Amit V, Chaffin Mark, Won Hong-Hee, Ardissino Diego, Danesh John, Schunkert Heribert, Wilson James G, Samani Nilesh, Erdmann Jeanette, McPherson Ruth, Watkins Hugh, Saleheen Danish, McCarthy Shane, Teslovich Tanya M, Leader Joseph B, Kirchner H Lester, Marrugat Jaume, Nohara Atsushi, Kawashiri Masaaki, Tada Hayato, Dewey Frederick E, Carey David J, Baras Aris, Kathiresan Sek |
| Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. Atherosclerosis 2019 2 283 52-60. Blanco-Vaca Francisco, Martin-Campos Jesús M, Beteta-Vicente Ángel, Canyelles Marina, Martínez Susana, Roig Rosa, Farré Núria, Julve Josep, Tondo Mire |
| Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders. Nature communications 2019 Oct 10 (1): 4897. Oetjens M T, Kelly M A, Sturm A C, Martin C L, Ledbetter D |
| Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ?2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages. Neurogenetics 2021 10 23 (1): 69-71. Ikeda Masaki, Okamoto Koichi, Suzuki Keiji, Amari Masakuni, Takai Eriko, Takatama Masamitsu, Yokoo Hideaki, Ishibashi Shun, Ikeda Yosh |
| Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile. Arteriosclerosis, thrombosis, and vascular biology 2022 Oct 42 (10): 1262-1271. Rimbert Antoine, Yeung Ming W, Dalila Nawar, Thio Chris H L, Yu Haojie, Loaiza Natalia, Oldoni Federico, van der Graaf Adriaan, Wang Siqi, Said M Abdullah, Blauw Lisanne L, Girardeau Aurore, Bray Lise, Caillaud Amandine, Bloks Vincent W, Marrec Marie, Moulin Philippe, Rensen Patrick C N, van de Sluis Bart, Snieder Harold, Di Filippo Mathilde, van der Harst Pim, Tybjaerg-Hansen Anne, Zimmerman Philip, Cariou Bertrand, Kuivenhoven Jan Albe |
| Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration? Nutrition, metabolism, and cardiovascular diseases : NMCD 2024 9 . Antonina Giammanco, Davide Noto, Emilio Nardi, Carola Maria Gagliardo, Chiara Scrimali, Federica Brucato, Rossella Spina, Carlo Maria Barbagallo, Rosalia Caldarella, Marcello Ciaccio, Angelo Baldassare Cefalù, Maurizio Aver |
- Page last reviewed:Feb 1, 2024
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