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Results 1 to 25 of 1785

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Regions of homozygosity and their impact on complex diseases and traitsCHEE SENG KU; NAIDOO, Nasheen; SHU MEI TEO et al.Human genetics. 2011, Vol 129, Num 1, pp 1-15, issn 0340-6717, 15 p.Article

A homozygous mutation in LTBP2 causes isolated microspherophakiaKUMAR, Arun; DUVVARI, Maheswara R; PRABHAKARAN, Venkatesh C et al.Human genetics. 2010, Vol 128, Num 4, pp 365-371, issn 0340-6717, 7 p.Article

An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN LocusREDDY, Sreelatha; SHUANGJIA; GEOFFREY, Rhonda et al.The New England journal of medicine. 2009, Vol 360, Num 23, pp 2438-2444, issn 0028-4793, 7 p.Article

The distribution of homozygosity for four allelesPERLOW, J.Theoretical population biology (Print). 1986, Vol 30, Num 2, pp 161-165, issn 0040-5809Article

Extended tracts of homozygosity in outbred human populationsGIBSON, Jane; MORTON, Newton E; COLLINS, Andrew et al.Human molecular genetics (Print). 2006, Vol 15, Num 5, pp 789-795, issn 0964-6906, 7 p.Article

Genomic Patterns of Homozygosity in Worldwide Human PopulationsPEMBERTON, Trevor J; ABSHER, Devin; FELDMAN, Marcus W et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 275-292, issn 0002-9297, 18 p.Article

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephalyGUVEN, Ayse; GUNDUZ, Aysegul; BOZOGLU, Tarik M et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 3, pp 189-194, issn 1364-6745, 6 p.Article

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/CSHEN, J. J; BROWN, C. A; LUPSKI, J. R et al.Journal of medical genetics. 2003, Vol 40, Num 11, pp 854-857, issn 0022-2593, 4 p.Article

Differential corticospinal tract degeneration in homozygous 'D90A' SOD-1 ALS and sporadic ALSBLAIN, C. R. V; BRUNTON, S; WILLIAMS, S. C. R et al.Journal of neurology, neurosurgery and psychiatry. 2011, Vol 82, Num 8, pp 843-849, issn 0022-3050, 7 p.Article

Runs of Homozygosity in European PopulationsMCQUILLAN, Ruth; LEUTENEGGER, Anne-Louise; MACLEOD, Andrew K et al.American journal of human genetics. 2008, Vol 83, Num 3, pp 359-372, issn 0002-9297, 14 p.Article

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansionHORSNELL, Katherine; ALI, Manir; MALIK, Saghira et al.European journal of medical genetics. 2006, Vol 49, Num 5, pp 396-401, issn 1769-7212, 6 p.Article

The first characterization of homozygous HOX gene mutation in humansCOBURN, B.Clinical genetics. 2006, Vol 69, Num 3, pp 205-206, issn 0009-9163, 2 p.Article

Persistent NKH with transient or absent symptoms and a homozygous GLDC mutationKORMAN, Stanley H; BONEH, Avihu; ICHINOHE, Akiko et al.Annals of neurology. 2004, Vol 56, Num 1, pp 139-143, issn 0364-5134, 5 p.Article

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotypeLE GAC, Gérald; GOURLAOUEN, Isabelle; RONSIN, Christophe et al.Blood. 2008, Vol 112, Num 13, pp 5238-5240, issn 0006-4971, 3 p.Article

Haplotype homozygosity and derived alleles in the human genomeFRY, Andrew E; TRAFFORD, Clare J; KIMBER, Martin A et al.American journal of human genetics. 2006, Vol 78, Num 6, pp 1053-1059, issn 0002-9297, 7 p.Article

Homozygosity in a population of variable size and mutation rateO'BRIEN, P.Journal of mathematical biology (Print). 1985, Vol 22, Num 3, pp 279-291, issn 0303-6812Article

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2REZENDE-LIMA, Wania; PARREIRA, Kleber S; GARCIA-GONZALEZ, Miguel et al.Kidney international. 2004, Vol 66, Num 2, pp 558-563, issn 0085-2538, 6 p.Article

The human growth hormone transgene : expression in hemizygous and homozygous miceYUN, J. S; LI, Y; WIGHT, D. C et al.Proceedings of the Society for Experimental Biology and Medicine. 1990, Vol 194, Num 4, pp 308-313, issn 0037-9727Article

Spectrin Oran (αII/21), a new spectrin variant concerning the αII domain and causing severe elliptocytosis in the homozygous stateALLOISIO, N; MORLE, L; POTHIER, B et al.Blood. 1988, Vol 71, Num 4, pp 1039-1047, issn 0006-4971Article

Homozygosity for the σ-chain variant haemoglobin A2 ' (HbB2) (σ16 Gly→Arg)LEHMANN, H; JENKINS, T; PLOWMAN, D et al.Hemoglobin. 1985, Vol 9, Num 4, pp 363-372, issn 0363-0269Article

Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous FamilyKOJOVIC, Maja; SHEERIN, Una-Marie; BHATIA, Kailash P et al.Movement disorders. 2012, Vol 27, Num 14, pp 1827-1829, issn 0885-3185, 3 p.Article

Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutationsHAGENAH, J. M; BECKER, B; BRÜGGEMANN, N et al.Journal of neurology, neurosurgery and psychiatry. 2008, Vol 79, Num 9, pp 1077-1080, issn 0022-3050, 4 p.Article

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonismROHE, Christan F; MONTAGNA, Pasquale; BREEDVELD, Guido et al.Annals of neurology. 2004, Vol 56, Num 3, pp 427-431, issn 0364-5134, 5 p.Article

Patient homozygous for a recessive POLG mutation presents with features of MERRFVAN GOETHEM, G; MERCELIS, R; LÖFGREN, A et al.Neurology. 2003, Vol 61, Num 12, pp 1811-1813, issn 0028-3878, 3 p.Article

Homozygous β-thalassemia without anemiaSAFAYA, S; RIEDER, R. F; DOWLING, C. E et al.Blood. 1989, Vol 73, Num 1, pp 324-328, issn 0006-4971Article

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