Results 101 to 110 of about 2,131 (168)

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation [PDF]

, 2017
The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can expand our understanding of the medical relevance of ...
Abdulwahab, Firdous, Monies, Dorota, Al-Owain, Mohammed, Maddirevula, Sateesh, Goljan, Ewa, Alkhalidi, Hisham, Sulaiman, Raashda A., Shaheen, Ranad, Alkuraya, Fowzan S., Hashem, Mais, Kurdi, Wesam, Alanazy, Mohammed H., Arold, Stefan T., Abouelhoda, Mohamed, Faqeih, Eissa, Ibrahim, Niema   +15 more
core   +1 more source

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. [PDF]

Nat Genet
Kim HI, DeBoever C, Walter K, Kalantzis G, Li C, Mozaffari SV, Kundu K, Jacobs BM, Mohammadi-Shemirani P, Musolf AM, Davitte JM, Aksit MA, Gafton J, Catalano KA, Dawed AY, Graham RR, Guo B, Gupta N, Heng TH, Hunt KA, Iyer V, Langenberg C, Lassen FH, MacArthur DG, Maher ER, Maroteau C, Newman WG, O'Rahilly S, Palmer DS, Popov I, Siddiqui MK, Simpson MA, Spreckley M, Wright J, Genes and Health Research Team, Del Angel G, Petrovski S, Holzinger ER, Maranville JC, Addis L, Turner RM, Estrada K, Longerich S, Howson JMM, Jamshidi Y, Fauman EB, Miller MR, Diogo D, Trembath RC, Finer S, Martin HC, van Heel DA.   +51 more
europepmc   +2 more sources

A homozygous missense variant, p.Ser166Leu in the <i>PRPF40B</i> gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor. [PDF]

Front Neurol
Onat OE, Sonti S, Robakis D, Tekinay AB, Akbostanci C, Durmaz Celik FN, Ozcelik T, Clark LN.   +7 more
europepmc   +1 more source

Whole Exome Sequencing as a Tool for Autozygosity Mapping [PDF]

Human Mutation, 2012
openaire   +1 more source

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window. [PDF]

Mol Neurobiol
Owrang D, Rad A, Alerasool M, Kolb SM, Lin SJ, Doll J, Alidadiani N, Ghaderi S, Hofrichter MAH, Maroofian R, Varshney GK, Mojarrad M, Bartsch O, Haaf T, Vona B.   +14 more
europepmc   +1 more source

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. [PDF]

Journal of Medical Genetics, 1993
R F, Mueller, D T, Bishop
openaire   +2 more sources

A high-coverage Neandertal genome from the Altai Mountains reveals population structure among Neandertals. [PDF]

Proc Natl Acad Sci U S A
Massilani D, Peyrégne S, Iasi LNM, de Filippo C, Mafessoni F, Bossoms Mesa A, Sümer AP, Swiel Y, Popli D, Silverman S, Boyle MJ, Kozlikin MB, Shunkov MV, Derevianko AP, Higham T, Douka K, Meyer M, Zeberg H, Kelso J, Pääbo S.   +19 more
europepmc   +1 more source

Genetic Architecture of Hock Joint Bumps in Pigs: Insights from ROH and GWAS Analyses. [PDF]

Animals (Basel)
Getmantseva L, Kolosova M, Shevtsova V, Kolosov A, Bakoev F, Romanets E, Romanets T, Bakoev S.   +7 more
europepmc   +1 more source

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report. [PDF]

Front Genet
Abhishek K, Mohanta NK, John J, Panda S, Satapathy AK, Rattan R, Ramchander PV.   +6 more
europepmc   +1 more source

Uncovering the Genetic Structure of the Sekler Population in Transylvania Through Genome-Wide Autosomal Data. [PDF]

Genes (Basel)
Szabó A, Bánfai Z, Sümegi K, Ádám V, Gallyas F, Kásler M, Melegh B.   +6 more
europepmc   +1 more source