Below are the most recent publications written about "Genetic Carrier Screening" by people in Profiles.
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Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Mol Genet Genomic Med. 2021 04; 9(4):e1621.
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Mastantuoni E, Saccone G, Al-Kouatly HB, Paternoster M, D'Alessandro P, Arduino B, Carbone L, Esposito G, Raffone A, De Vivo V, Maruotti GM, Berghella V, Zullo F. Expanded carrier screening: A current perspective. Eur J Obstet Gynecol Reprod Biol. 2018 Nov; 230:41-54.
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Franasiak JM, Olcha M, Bergh PA, Hong KH, Werner MD, Forman EJ, Zimmerman RS, Scott RT. Expanded carrier screening in an infertile population: how often is clinical decision making affected? Genet Med. 2016 11; 18(11):1097-1101.
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Cizmeli C, Lobel M, Franasiak J, Pastore LM. Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve. Fertil Steril. 2013 Jun; 99(7):2037-44.e3.
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Martignago BC, Lai-Cheong JE, Liu L, McGrath JA, Cestari TF. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome. Br J Dermatol. 2007 Dec; 157(6):1281-4.
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Cordeiro JM, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, Orsino AM, Wu YS, Hu D, Brugada J, Brugada P, Antzelevitch C, Dumaine R, Brugada R. Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation. 2006 Nov 07; 114(19):2026-33.
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Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006 Mar; 38(3):337-42.
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Karahanian E, Ocaranza P, Israel Y. Aldehyde dehydrogenase (ALDH2) activity in hepatoma cells is reduced by an adenoviral vector coding for an ALDH2 antisense mRNA. Alcohol Clin Exp Res. 2005 Aug; 29(8):1384-9.
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Motaghedi R, Betensky BP, Slowinska B, Cerame B, Cabrer M, New MI, Wilson RC. Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. J Pediatr Endocrinol Metab. 2005 Feb; 18(2):133-42.
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Ferraris A, Rappaport E, Santacroce R, Pollak E, Krantz I, Toth S, Lysholm F, Margaglione M, Restagno G, Dallapiccola B, Surrey S, Fortina P. Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. Hum Mutat. 2002 Oct; 20(4):312-20.