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Items: 18


Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.

Amininejad L, Charloteaux B, Theatre E, Liefferinckx C, Dmitrieva J, Hayard P, Muls V, Maisin JM, Schapira M, Ghislain JM, Closset P, Talib M, Abramowicz M, Momozawa Y, Deffontaine V, Crins F, Mni M, Karim L, Cambisano N, Ornemese S, Zucchi A, Minsart C, Deviere J, Hugot JP, De Vos M, Louis E, Vermeire S, Van Gossum A, Coppieters W, Twizere JC, Georges M, Franchimont D; International IBD Genetics Consortium.

Gastroenterology. 2018 Jun;154(8):2165-2177. doi: 10.1053/j.gastro.2018.02.028. Epub 2018 Mar 6.


Coding and noncoding variants in HFM1, MLH3, MSH4, MSH5, RNF212, and RNF212B affect recombination rate in cattle.

Kadri NK, Harland C, Faux P, Cambisano N, Karim L, Coppieters W, Fritz S, Mullaart E, Baurain D, Boichard D, Spelman R, Charlier C, Georges M, Druet T.

Genome Res. 2016 Oct;26(10):1323-1332. Epub 2016 Aug 11.


On the use of the transmission disequilibrium test to detect pseudo-autosomal variants affecting traits with sex-limited expression.

Elansary M, Stinckens A, Ahariz N, Cambisano N, Coppieters W, Grindflek E, van Son M, Buys N, Georges M.

Anim Genet. 2015 Aug;46(4):395-402. doi: 10.1111/age.12296. Epub 2015 May 21.


Selection in action: dissecting the molecular underpinnings of the increasing muscle mass of Belgian Blue Cattle.

Druet T, Ahariz N, Cambisano N, Tamma N, Michaux C, Coppieters W, Charlier C, Georges M.

BMC Genomics. 2014 Sep 17;15:796. doi: 10.1186/1471-2164-15-796.


A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.

Georges A, Cambisano N, Ahariz N, Karim L, Georges M.

PLoS One. 2013 Dec 23;8(12):e83574. doi: 10.1371/journal.pone.0083574. eCollection 2013.


A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.

Sartelet A, Stauber T, Coppieters W, Ludwig CF, Fasquelle C, Druet T, Zhang Z, Ahariz N, Cambisano N, Jentsch TJ, Charlier C.

Dis Model Mech. 2014 Jan;7(1):119-28. doi: 10.1242/dmm.012500. Epub 2013 Oct 23.


A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.

Charlier C, Agerholm JS, Coppieters W, Karlskov-Mortensen P, Li W, de Jong G, Fasquelle C, Karim L, Cirera S, Cambisano N, Ahariz N, Mullaart E, Georges M, Fredholm M.

PLoS One. 2012;7(8):e43085. doi: 10.1371/journal.pone.0043085. Epub 2012 Aug 29.


Serial translocation by means of circular intermediates underlies colour sidedness in cattle.

Durkin K, Coppieters W, Drögemüller C, Ahariz N, Cambisano N, Druet T, Fasquelle C, Haile A, Horin P, Huang L, Kamatani Y, Karim L, Lathrop M, Moser S, Oldenbroek K, Rieder S, Sartelet A, Sölkner J, Stålhammar H, Zelenika D, Zhang Z, Leeb T, Georges M, Charlier C.

Nature. 2012 Feb 1;482(7383):81-4. doi: 10.1038/nature10757.


Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.

Karim L, Takeda H, Lin L, Druet T, Arias JA, Baurain D, Cambisano N, Davis SR, Farnir F, Grisart B, Harris BL, Keehan MD, Littlejohn MD, Spelman RJ, Georges M, Coppieters W.

Nat Genet. 2011 May;43(5):405-13. doi: 10.1038/ng.814. Epub 2011 Apr 24.


Highly effective SNP-based association mapping and management of recessive defects in livestock.

Charlier C, Coppieters W, Rollin F, Desmecht D, Agerholm JS, Cambisano N, Carta E, Dardano S, Dive M, Fasquelle C, Frennet JC, Hanset R, Hubin X, Jorgensen C, Karim L, Kent M, Harvey K, Pearce BR, Simon P, Tama N, Nie H, Vandeputte S, Lien S, Longeri M, Fredholm M, Harvey RJ, Georges M.

Nat Genet. 2008 Apr;40(4):449-54. doi: 10.1038/ng.96. Epub 2008 Mar 16.


Genetic and functional confirmation of the causality of the DGAT1 K232A quantitative trait nucleotide in affecting milk yield and composition.

Grisart B, Farnir F, Karim L, Cambisano N, Kim JJ, Kvasz A, Mni M, Simon P, Frère JM, Coppieters W, Georges M.

Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2398-403.


Molecular dissection of a quantitative trait locus: a phenylalanine-to-tyrosine substitution in the transmembrane domain of the bovine growth hormone receptor is associated with a major effect on milk yield and composition.

Blott S, Kim JJ, Moisio S, Schmidt-Küntzel A, Cornet A, Berzi P, Cambisano N, Ford C, Grisart B, Johnson D, Karim L, Simon P, Snell R, Spelman R, Wong J, Vilkki J, Georges M, Farnir F, Coppieters W.

Genetics. 2003 Jan;163(1):253-66.


Simultaneous mining of linkage and linkage disequilibrium to fine map quantitative trait loci in outbred half-sib pedigrees: revisiting the location of a quantitative trait locus with major effect on milk production on bovine chromosome 14.

Farnir F, Grisart B, Coppieters W, Riquet J, Berzi P, Cambisano N, Karim L, Mni M, Moisio S, Simon P, Wagenaar D, Vilkki J, Georges M.

Genetics. 2002 May;161(1):275-87.


Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition.

Grisart B, Coppieters W, Farnir F, Karim L, Ford C, Berzi P, Cambisano N, Mni M, Reid S, Simon P, Spelman R, Georges M, Snell R.

Genome Res. 2002 Feb;12(2):222-31.


Extensive genome-wide linkage disequilibrium in cattle.

Farnir F, Coppieters W, Arranz JJ, Berzi P, Cambisano N, Grisart B, Karim L, Marcq F, Moreau L, Mni M, Nezer C, Simon P, Vanmanshoven P, Wagenaar D, Georges M.

Genome Res. 2000 Feb;10(2):220-7.


Fine-mapping of quantitative trait loci by identity by descent in outbred populations: application to milk production in dairy cattle.

Riquet J, Coppieters W, Cambisano N, Arranz JJ, Berzi P, Davis SK, Grisart B, Farnir F, Karim L, Mni M, Simon P, Taylor JF, Vanmanshoven P, Wagenaar D, Womack JE, Georges M.

Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):9252-7.


A QTL affecting milk yield and composition maps to bovine chromosome 20: a confirmation.

Arranz JJ, Coppieters W, Berzi P, Cambisano N, Grisart B, Karim L, Marcq F, Moreau L, Mezer C, Riquet J, Simon P, Vanmanshoven P, Wagenaar D, Georges M.

Anim Genet. 1998 Apr;29(2):107-15.


A QTL with major effect on milk yield and composition maps to bovine chromosome 14.

Coppieters W, Riquet J, Arranz JJ, Berzi P, Cambisano N, Grisart B, Karim L, Marcq F, Moreau L, Nezer C, Simon P, Vanmanshoven P, Wagenaar D, Georges M.

Mamm Genome. 1998 Jul;9(7):540-4.


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