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1.
The rate of de novo structural variation is increased in in vitro-produced offspring and preferentially affects the paternal genome.
Genome Res
; 33(9): 1455-1464, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37793781
2.
Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.
Gastroenterology
; 154(8): 2165-2177, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29501442
3.
Coding and noncoding variants in HFM1, MLH3, MSH4, MSH5, RNF212, and RNF212B affect recombination rate in cattle.
Genome Res
; 26(10): 1323-1332, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27516620
4.
Serial translocation by means of circular intermediates underlies colour sidedness in cattle.
Nature
; 482(7383): 81-4, 2012 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22297974
5.
On the use of the transmission disequilibrium test to detect pseudo-autosomal variants affecting traits with sex-limited expression.
Anim Genet
; 46(4): 395-402, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25996251
6.
Selection in action: dissecting the molecular underpinnings of the increasing muscle mass of Belgian Blue Cattle.
BMC Genomics
; 15: 796, 2014 Sep 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-25228463
7.
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.
Genetics
; 161(1): 275-87, 2002 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-12019241
8.
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.
Genetics
; 163(1): 253-66, 2003 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-12586713
9.
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
Dis Model Mech
; 7(1): 119-28, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24159188
10.
A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.
PLoS One
; 8(12): e83574, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24376720
11.
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.
PLoS One
; 7(8): e43085, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22952632
12.
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.
Nat Genet
; 43(5): 405-13, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21516082
13.
Highly effective SNP-based association mapping and management of recessive defects in livestock.
Nat Genet
; 40(4): 449-54, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18344998
14.
Genetic and functional confirmation of the causality of the DGAT1 K232A quantitative trait nucleotide in affecting milk yield and composition.
Proc Natl Acad Sci U S A
; 101(8): 2398-403, 2004 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-14983021
15.
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.
Genome Res
; 12(2): 222-31, 2002 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-11827942
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