Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Abnormalities and FH[original query] |
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Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia. European journal of clinical investigation 2003 Jan 33 (1): 1-9. Descamps O S, Gilbeau J-P, Luwaert R, Heller F |
Allelic variants of natriuretic peptide receptor genes are associated with family history of hypertension and cardiovascular phenotype. Journal of hypertension 2003 Aug 21 (8): 1491-6. Pitzalis Maria Vittoria, Sarzani Riccardo, Dessì-Fulgheri Paolo, Iacoviello Massimo, Forleo Cinzia, Lucarelli Katya, Pietrucci Francesca, Salvi Fabio, Sorrentino Sandro, Romito Roberta, Guida Pietro, Rappelli Alessandro, Rizzon Pao |
Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes. The Journal of clinical endocrinology and metabolism 2007 Sep 92 (9): 3667-73. García-Otín A L, Cofán M, Junyent M, Recalde D, Cenarro A, Pocoví M, Ros E, Civeira |
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. Journal of medical genetics 2009 Jul 46 (7): 447-50. Dragon-Durey M-A, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman W H, Frémeaux-Bacchi |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. The American journal of cardiology 2010 Jun 105 (12): 1752-8. Chiou Kuan-Rau, Charng Min- |
Determinants of premature familial arterial thrombosis in patients with juvenile ischaemic stroke. The Italian Project on Stroke in Young Adults (IPSYS). Thrombosis and haemostasis 2015 Mar 113 (3): 641-8. Pezzini Alessandro, Grassi Mario, Lodigiani Corrado, Patella Rosalba, Gandolfo Carlo, Zini Andrea, DeLodovici Maria Luisa, Paciaroni Maurizio, Del Sette Massimo, Toriello Antonella, Musolino Rossella, Calabrò Rocco Salvatore, Bovi Paolo, Adami Alessandro, Silvestrelli Giorgio, Sessa Maria, Cavallini Anna, Marcheselli Simona, Bonifati Domenico Marco, Checcarelli Nicoletta, Tancredi Lucia, Chiti Alberto, Del Zotto Elisabetta, Spalloni Alessandra, Costa Paolo, Giacalone Giacomo, Ferrazzi Paola, Poli Loris, Morotti Andrea, Rasura Maurizia, Simone Anna Maria, Gamba Massimo, Cerrato Paolo, Micieli Giuseppe, Melis Maurizio, Massucco Davide, De Giuli Valeria, Pepe Daniele, Iacoviello Licia, Padovani Alessandro, |
ERBB4 polymorphism and family history of psychiatric disorders on age-related cortical changes in healthy children. Brain imaging and behavior 2015 Mar 9 (1): 128-40. Douet Vanessa, Chang Linda, Lee Kristin, Ernst Thomas, |
Mipomersen, an antisense oligonucleotide to apolipoprotein B-100, reduces lipoprotein(a) in various populations with hypercholesterolemia: results of 4 phase III trials. Arteriosclerosis, thrombosis, and vascular biology 2015 Mar 35 (3): 689-99. Santos Raul D, Raal Frederick J, Catapano Alberico L, Witztum Joseph L, Steinhagen-Thiessen Elisabeth, Tsimikas Sotiri |
Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology : JASN 2017 10 29 (1): 240-249. Goicoechea de Jorge Elena, Tortajada Agustín, García Sheila Pinto, Gastoldi Sara, Merinero Héctor Martín, García-Fernández Jesús, Arjona Emilia, Cao Mercedes, Remuzzi Giuseppe, Noris Marina, Rodríguez de Córdoba Santia |
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. American journal of medical genetics. Part A 2019 11 182 (3): 504-507. Grocott Olivia, Phanor Sabrina K, Fung France, Thibert Ronald L, Berkmen Melanie |
Clinical and serum lipid profiles and LDLR genetic analysis of xanthelasma palpebrarum with nonfamilial hypercholesterolemia. Journal of cosmetic dermatology 2020 3 19 (11): 3096-3099. Zhimin Wang, Hui Wang, Fengtao Ji, Wenjuan Sun, Yongrong |
Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas. European urology focus 2022 3 8 (5): 1278-1288. Yoo Angela, Tang Cerise, Zucker Mark, Fitzgerald Kelly, DiNatale Renzo G, Rappold Phillip M, Weiss Kate, Freeman Benjamin, Lee Chung-Han, Schultz Nikolaus, Motzer Robert, Russo Paul, Coleman Jonathan, Reuter Victor E, Chen Ying-Bei, Carlo Maria I, Gill Anthony J, Kotecha Ritesh R, Ari Hakimi A, Reznik |
Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia. Acta biochimica Polonica 2023 11 . May Salem Al-Nbahe |
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- Page last updated:Apr 16, 2024
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