Below are the most recent publications written about "Genes, Recessive" by people in Profiles.
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Ghani M, Reitz C, Cheng R, Vardarajan BN, Jun G, Sato C, Naj A, Rajbhandary R, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith PA, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Lee JH, Schellenberg GD, St George-Hyslop P, Mayeux R, Rogaeva E. Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol. 2015 Nov; 72(11):1313-23.
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Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR. Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita. Pediatr Neurol. 2010 May; 42(5):365-8.
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Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S. Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 Sep 15; 15(18):2791-803.
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Bennett CL, Huynh HM, Chance PF, Glass IA, Gospe SM. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics. 2005 Sep; 6(3):143-9.
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Chen J, Batta A, Zheng S, Fitzgibbon WR, Ullian ME, Yu H, Tso P, Salen G, Patel SB. The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension. BMC Genet. 2005 Jul 18; 6:40.
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Smits BM, Peters TA, Mul JD, Croes HJ, Fransen JA, Beynon AJ, Guryev V, Plasterk RH, Cuppen E. Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. Genetics. 2005 Aug; 170(4):1887-96.
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Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, Holland SM. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004 Dec 11-17; 364(9451):2113-21.
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Rosenzweig SD, Dorman SE, Uzel G, Shaw S, Scurlock A, Brown MR, Buckley RH, Holland SM. A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol. 2004 Sep 15; 173(6):4000-8.
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Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004 Sep; 75(3):504-7.
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Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, Roizen N, Rosenfield RL. Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Pediatr Res. 1999 Nov; 46(5):510-3.