Below are the most recent publications written about "Genetic Carrier Screening" by people in Profiles.
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Parobek CM, Has P, Lorenzi P, Russo ML, Clark MA, Lewkowitz AK. What test did I have? Patient uncertainty about prenatal genetic screening. Am J Obstet Gynecol. 2021 09; 225(3):341-342.
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Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S. Branching enzyme deficiency: expanding the clinical spectrum. JAMA Neurol. 2014 Jan; 71(1):41-7.
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Lin WT, Beattie M, Chen LM, Oktay K, Crawford SL, Gold EB, Cedars M, Rosen M. Comparison of age at natural menopause in BRCA1/2 mutation carriers with a non-clinic-based sample of women in northern California. Cancer. 2013 May 01; 119(9):1652-9.
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Pfister EL, Kennington L, Straubhaar J, Wagh S, Liu W, DiFiglia M, Landwehrmeyer B, Vonsattel JP, Zamore PD, Aronin N. Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr Biol. 2009 May 12; 19(9):774-8.
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McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci U S A. 2007 Oct 02; 104(40):15917-22.
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Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006 Feb; 21(2):241-5.
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Tomaszewicz K, Kang P, Wu BL. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification. Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18; 37(1):55-7.
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Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics. 2004 Jun; 113(6):1573-81.
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Serreze DV, Holl TM, Marron MP, Graser RT, Johnson EA, Choisy-Rossi C, Slattery RM, Lieberman SM, DiLorenzo TP. MHC class II molecules play a role in the selection of autoreactive class I-restricted CD8 T cells that are essential contributors to type 1 diabetes development in nonobese diabetic mice. J Immunol. 2004 Jan 15; 172(2):871-9.
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Lawson ND, Mugford JW, Diamond BA, Weinstein BM. phospholipase C gamma-1 is required downstream of vascular endothelial growth factor during arterial development. Genes Dev. 2003 Jun 01; 17(11):1346-51.