Tag Archives: Reference

Genetics Home Reference: nonketotic hyperglycinemia

Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol. 2003 Feb;28(2):151-5. Review. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. J Inherit Metab Dis. 2004;27(3):417-22. Review. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and… Read More »

Genetics Home Reference: familial hypercholesterolemia

Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called (LDLs), which are the primary carriers of cholesterol… Read More »

Genetics Home Reference: orthostatic hypotension

Orthostatic hypotension is a drop in blood pressure that occurs when moving from a laying down (supine) position to a standing (upright) position. The word “orthostasis” means to stand up, so the condition is defined as low blood pressure (hypotension) that occurs upon standing. When standing up, gravity moves blood from the upper body to… Read More »

Genetics Home Reference: Xia-Gibbs syndrome

Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Murdock DR, Jiang Y, Wangler M, Khayat MM,… Read More »

Genetics Home Reference: 15q11-q13 duplication syndrome

Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G. Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome. Am J Med Genet A. 2016 Oct;170(10):2531-9. doi: 10.1002/ajmg.a.37844. Epub 2016 Aug 11. Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C,… Read More »

Genetics Home Reference: migraine

Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH, Farh KH, Cuenca-Leon E, Muona M, Furlotte NA, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt GM, Kallela M, Freilinger TM, Ran C, Gordon SG, Stam AH, Steinberg S, Borck G, Koiranen M, Quaye L, Adams HH, Lehtimäki T, Sarin AP, Wedenoja… Read More »