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Items: 32

1.

[Incidental findings of maternal genetic abnormalities during non-invasive prenatal screening].

Léonard F, Gueben R, Gueben R, Grisart B, Van Linthout C.

Rev Med Liege. 2018 Mar;73(3):125-128. French.

2.

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

Dheedene A, Sante T, De Smet M, Vanbellinghen JF, Grisart B, Vergult S, Janssens S, Menten B.

Prenat Diagn. 2016 Aug;36(8):699-707. doi: 10.1002/pd.4841. Epub 2016 Jul 1.

3.

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.

Balbeur S, Grisart B, Parmentier B, Sartenaer D, Leonard PE, Ullmann U, Boulanger S, Leroy L, Ngendahayo P, Lungu-Silviu C, Lysy P, Maystadt I.

Clin Case Rep. 2016 Feb 2;4(3):265-71. doi: 10.1002/ccr3.501. eCollection 2016 Mar.

4.

Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.

Lannoy N, Ravoet M, Grisart B, Fretigny M, Vikkula M, Hermans C.

Thromb Res. 2016 Jan;137:224-227. doi: 10.1016/j.thromres.2015.11.015. Epub 2015 Dec 1. No abstract available.

PMID:
26653368
5.

Identification of an NPHP1 deletion causing adult form of nephronophthisis.

Haghighi A, Savaj S, Haghighi-Kakhki H, Benoit V, Grisart B, Dahan K.

Ir J Med Sci. 2016 Aug;185(3):589-95. doi: 10.1007/s11845-015-1312-7. Epub 2015 Jun 4.

PMID:
26037636
6.

Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.

Lannoy N, Bandelier C, Grisart B, Reginster M, Ronge-Collard E, Vikkula M, Hermans C.

Haemophilia. 2015 Jul;21(4):516-22. doi: 10.1111/hae.12675. Epub 2015 May 11.

PMID:
25962585
7.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K.

Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15. Review.

PMID:
24534801
8.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.

Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363. Epub 2014 Mar 27.

PMID:
24527667
9.

Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

Lannoy N, Grisart B, Eeckhoudt S, Verellen-Dumoulin C, Lambert C, Vikkula M, Hermans C.

Eur J Hum Genet. 2013 Sep;21(9):970-6. doi: 10.1038/ejhg.2012.275. Epub 2013 Jan 9.

10.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H.

Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.

11.

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C.

Am J Hum Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub 2011 Dec 22.

12.

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.

PMID:
21516082
13.

Spectrum of mutations in Gitelman syndrome.

Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X.

J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17.

14.

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A.

Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15.

PMID:
21167329
15.

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.

Grisart B, Willatt L, Destrée A, Fryns JP, Rack K, de Ravel T, Rosenfeld J, Vermeesch JR, Verellen-Dumoulin C, Sandford R.

J Med Genet. 2009 Aug;46(8):524-30. doi: 10.1136/jmg.2008.065367. Epub 2009 Jun 4.

PMID:
19502243
16.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.

J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Aug;46(8):576.

17.

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

Grisart B, Rack K, Vidrequin S, Hilbert P, Deltenre P, Verellen-Dumoulin C, Destrée A.

Eur J Hum Genet. 2008 Mar;16(3):305-11. doi: 10.1038/sj.ejhg.5201978. Epub 2008 Jan 9.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

PMID:
9699270
25.

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.

PMID:
9657851
26.

A rank-based nonparametric method for mapping quantitative trait loci in outbred half-sib pedigrees: application to milk production in a granddaughter design.

Coppieters W, Kvasz A, Farnir F, Arranz JJ, Grisart B, Mackinnon M, Georges M.

Genetics. 1998 Jul;149(3):1547-55.

27.

Glucose metabolism during bovine preimplantation development: analysis of gene expression in single oocytes and embryos.

Lequarre AS, Grisart B, Moreau B, Schuurbiers N, Massip A, Dessy F.

Mol Reprod Dev. 1997 Oct;48(2):216-26.

28.

Effects of co-culture and embryo number on the in vitro development of bovine embryos.

Donnay I, Van Langendonckt A, Auquier P, Grisart B, Vansteenbrugge A, Massip A, Dessy F.

Theriogenology. 1997 Jun;47(8):1549-61.

PMID:
16728097
29.

Three year results of in vitro production of bovine embryos in serum-poor bovine oviduct conditioned medium. An overview.

Van Langendonckt A, Vansteenbrugge A, Donnay I, Van Soom A, Berg U, Semple E, Grisart B, Mermillod P, Brem G, Massip A, Dessy F.

Reprod Nutr Dev. 1996;36(5):493-502.

PMID:
8987101
30.

Comparison of the effects of oviductal cell co-culture and oviductal cell-conditioned medium on the development and metabolic activity of cattle embryos.

Rieger D, Grisart B, Semple E, Van Langendonckt A, Betteridge KJ, Dessy F.

J Reprod Fertil. 1995 Sep;105(1):91-8.

PMID:
7490721
31.

The sex ratio of bovine embryos produced in vitro in serum-free oviduct cell-conditioned medium is not altered.

Grisart B, Massip A, Collette L, Dessy F.

Theriogenology. 1995 Apr 15;43(6):1097-106.

PMID:
16727696
32.

Cinematographic analysis of bovine embryo development in serum-free oviduct-conditioned medium.

Grisart B, Massip A, Dessy F.

J Reprod Fertil. 1994 Jul;101(2):257-64.

PMID:
7932357

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