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Items: 1 to 50 of 76

1.

Phosphatidic Acid Counteracts S-RNase Signaling in Pollen by Stabilizing the Actin Cytoskeleton.

Chen J, Wang P, de Graaf BHJ, Zhang H, Jiao H, Tang C, Zhang S, Wu J.

Plant Cell. 2018 May;30(5):1023-1039. doi: 10.1105/tpc.18.00021. Epub 2018 Apr 30.

PMID:
29716992
2.

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW.

Gastroenterology. 2018 Mar 28. pii: S0016-5085(18)30341-X. doi: 10.1053/j.gastro.2018.03.034. [Epub ahead of print]

3.

Empirical validation of the New Zealand serious non-fatal injury outcome indicator for 'all injury'.

Cryer C, Davie GS, Gulliver PJ, Petridou ET, Dessypris N, Lauritsen J, Macpherson AK, Miller TR, de Graaf B.

Inj Prev. 2017 Sep 27. pii: injuryprev-2017-042463. doi: 10.1136/injuryprev-2017-042463. [Epub ahead of print]

PMID:
28956758
4.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM.

Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8.

5.

Preventable injury deaths: identifying opportunities to improve timeliness and reach of emergency healthcare services in New Zealand.

Lilley R, Kool B, Davie G, de Graaf B, Ameratunga SN, Reid P, Civil I, Dicker B, Branas CC.

Inj Prev. 2017 Feb 9. pii: injuryprev-2016-042304. doi: 10.1136/injuryprev-2016-042304. [Epub ahead of print]

PMID:
28183742
6.

Identification of Phosphorylation Sites Altering Pollen Soluble Inorganic Pyrophosphatase Activity.

Eaves DJ, Haque T, Tudor RL, Barron Y, Zampronio CG, Cotton NP, de Graaf BH, White SA, Cooper HJ, Franklin FC, Harper JF, Franklin-Tong VE.

Plant Physiol. 2017 Mar;173(3):1606-1616. doi: 10.1104/pp.16.01450. Epub 2017 Jan 26.

7.

Managing distance and covariate information with point-based clustering.

Whigham PA, de Graaf B, Srivastava R, Glue P.

BMC Med Res Methodol. 2016 Sep 1;16(1):115. doi: 10.1186/s12874-016-0218-z.

8.

Towards valid 'serious non-fatal injury' indicators for international comparisons based on probability of admission estimates.

Cryer C, Miller TR, Lyons RA, Macpherson AK, Pérez K, Petridou ET, Dessypris N, Davie GS, Gulliver PJ, Lauritsen J, Boufous S, Lawrence B, de Graaf B, Steiner CA.

Inj Prev. 2017 Feb;23(1):47-57. doi: 10.1136/injuryprev-2016-042020. Epub 2016 Aug 8.

PMID:
27501735
9.

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM.

Eur J Hum Genet. 2016 Nov;24(11):1627-1629. doi: 10.1038/ejhg.2016.58. Epub 2016 Jun 29.

10.

Corrigendum: Identification of the pollen self-incompatibility determinant in Papaver rhoeas.

Wheeler MJ, de Graaf BH, Hadjiosif N, Perry RM, Poulter NS, Osman K, Vatovec S, Harper A, Christopher F, Franklin H, Franklin-Tong VE.

Nature. 2016 Mar 3;531(7592):126. doi: 10.1038/nature16181. Epub 2015 Dec 2. No abstract available.

PMID:
26633625
11.

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Widowati T, Melhem S, Patria SY, de Graaf BM, Sinke RJ, Viel M, Dijkhuis J, Sadewa AH, Purwohardjono R, Soenarto Y, Hofstra RM, Sribudiani Y.

Eur J Hum Genet. 2016 Jun;24(6):823-9. doi: 10.1038/ejhg.2015.214. Epub 2015 Sep 23.

12.

The effect of body posture during medication inhalation on exercise induced bronchoconstriction in asthmatic children.

Visser R, Wind M, de Graaf BJ, de Jongh FH, van der Palen J, Thio BJ.

Respir Med. 2015 Oct;109(10):1257-61. doi: 10.1016/j.rmed.2015.08.012. Epub 2015 Aug 29.

13.

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL.

J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.

14.

The impact of a rural scanner in overcoming urban versus rural disparities in the utilisation of computed tomography.

Nixon G, Samaranayaka A, de Graaf B, McKechnie R, Rodwell P, Blattner K.

Aust J Rural Health. 2015 Jun;23(3):150-4. doi: 10.1111/ajr.12125. Epub 2015 Jan 16.

PMID:
25594350
15.

Microbial biogeography of drinking water: patterns in phylogenetic diversity across space and time.

Roeselers G, Coolen J, van der Wielen PW, Jaspers MC, Atsma A, de Graaf B, Schuren F.

Environ Microbiol. 2015 Jul;17(7):2505-14. doi: 10.1111/1462-2920.12739. Epub 2015 Mar 10.

PMID:
25581482
16.

Protective effect of a low single dose inhaled steroid against exercise induced bronchoconstriction.

Visser R, Wind M, de Graaf B, de Jongh FH, van der Palen J, Thio BJ.

Pediatr Pulmonol. 2015 Dec;50(12):1178-83. doi: 10.1002/ppul.23144. Epub 2014 Nov 21.

PMID:
25418114
17.

Geographic disparities in the utilisation of computed tomography scanning services in southern New Zealand.

Nixon G, Samaranayaka A, de Graaf B, McKechnie R, Blattner K, Dovey S.

Health Policy. 2014 Nov;118(2):222-8. doi: 10.1016/j.healthpol.2014.05.002. Epub 2014 Jun 5.

PMID:
24973925
18.

Phytotracker, an information management system for easy recording and tracking of plants, seeds and plasmids.

Nieuwland J, Sornay E, Marchbank A, de Graaf BH, Murray JA.

Plant Methods. 2012 Oct 13;8(1):43. doi: 10.1186/1746-4811-8-43.

19.

NPHP4 variants are associated with pleiotropic heart malformations.

French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM.

Circ Res. 2012 Jun 8;110(12):1564-74. doi: 10.1161/CIRCRESAHA.112.269795. Epub 2012 May 1.

20.

The Papaver self-incompatibility pollen S-determinant, PrpS, functions in Arabidopsis thaliana.

de Graaf BH, Vatovec S, Juárez-Díaz JA, Chai L, Kooblall K, Wilkins KA, Zou H, Forbes T, Franklin FC, Franklin-Tong VE.

Curr Biol. 2012 Jan 24;22(2):154-9. doi: 10.1016/j.cub.2011.12.006. Epub 2011 Dec 29.

21.

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW.

J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382.

PMID:
22167769
22.

Identification of RNA binding motif proteins essential for cardiovascular development.

Maragh S, Miller RA, Bessling SL, McGaughey DM, Wessels MW, de Graaf B, Stone EA, Bertoli-Avella AM, Gearhart JD, Fisher S, McCallion AS.

BMC Dev Biol. 2011 Oct 19;11:62. doi: 10.1186/1471-213X-11-62.

23.

Plant reproduction: does size matter?

Nieuwland J, de Graaf BH, Cheung AY, Bosch M.

New Phytol. 2011 Jun;190(4):812-5. doi: 10.1111/j.1469-8137.2011.03749.x. No abstract available.

24.

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM.

Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9.

PMID:
21217753
25.

Web-based alcohol screening and brief intervention for Māori and non-Māori: the New Zealand e-SBINZ trials.

Kypri K, McCambridge J, Cunningham JA, Vater T, Bowe S, De Graaf B, Saunders JB, Dean J.

BMC Public Health. 2010 Dec 22;10:781. doi: 10.1186/1471-2458-10-781.

26.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP.

Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234.

PMID:
20232353
27.

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.

Vegt R, Bertoli-Avella AM, Tulen JH, de Graaf B, Verkerk AJ, Vervoort J, Twigt CM, Maat-Kievit A, van Tuijl R, van der Lijn M, Hengeveld MW, Oostra BA.

Eur J Hum Genet. 2010 Feb;18(2):206-11. doi: 10.1038/ejhg.2009.148. Epub 2009 Aug 26.

28.

The Fanconi anemia protein FANCM is controlled by FANCD2 and the ATR/ATM pathways.

Sobeck A, Stone S, Landais I, de Graaf B, Hoatlin ME.

J Biol Chem. 2009 Sep 18;284(38):25560-8. doi: 10.1074/jbc.M109.007690. Epub 2009 Jul 24.

29.

Cellular pathways for DNA repair and damage tolerance of formaldehyde-induced DNA-protein crosslinks.

de Graaf B, Clore A, McCullough AK.

DNA Repair (Amst). 2009 Oct 2;8(10):1207-14. doi: 10.1016/j.dnarep.2009.06.007. Epub 2009 Jul 21.

30.

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

van de Laar I, Wessels M, Frohn-Mulder I, Dalinghaus M, de Graaf B, van Tienhoven M, van der Moer P, Husen-Ebbinge M, Lequin M, Dooijes D, de Krijger R, Oostra BA, Bertoli-Avella AM.

Eur Heart J. 2009 Oct;30(20):2485-92. doi: 10.1093/eurheartj/ehp271. Epub 2009 Jul 4.

PMID:
19578166
31.

Identification of the pollen self-incompatibility determinant in Papaver rhoeas.

Wheeler MJ, de Graaf BH, Hadjiosif N, Perry RM, Poulter NS, Osman K, Vatovec S, Harper A, Franklin FC, Franklin-Tong VE.

Nature. 2009 Jun 18;459(7249):992-5. doi: 10.1038/nature08027. Epub 2009 May 31. Erratum in: Nature. 2016 Mar 3;531(7592):126.

32.

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Brusse E, Majoor-Krakauer D, de Graaf BM, Visser GH, Swagemakers S, Boon AJ, Oostra BA, Bertoli-Avella AM.

Neurogenetics. 2009 Oct;10(4):289-97. doi: 10.1007/s10048-009-0193-1. Epub 2009 Apr 24.

33.

Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.

Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ.

Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594.

PMID:
19161153
34.

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.

Oldenburg RA, van Dooren MF, de Graaf B, Simons E, Govaerts L, Swagemakers S, Verkerk JM, Oostra BA, Bertoli-Avella AM.

Hum Reprod. 2008 Dec;23(12):2835-41. doi: 10.1093/humrep/den278. Epub 2008 Aug 9.

PMID:
18689850
35.

The dynamic pollen tube cytoskeleton: live cell studies using actin-binding and microtubule-binding reporter proteins.

Cheung AY, Duan QH, Costa SS, de Graaf BH, Di Stilio VS, Feijo J, Wu HM.

Mol Plant. 2008 Jul;1(4):686-702. doi: 10.1093/mp/ssn026. Epub 2008 Jun 12.

36.

ROBO2 gene variants are associated with familial vesicoureteral reflux.

Bertoli-Avella AM, Conte ML, Punzo F, de Graaf BM, Lama G, La Manna A, Polito C, Grassia C, Nobili B, Rambaldi PF, Oostra BA, Perrotta S.

J Am Soc Nephrol. 2008 Apr;19(4):825-31. doi: 10.1681/ASN.2007060692. Epub 2008 Jan 30.

37.

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Conte ML, Bertoli-Avella AM, de Graaf BM, Punzo F, Lama G, La Manna A, Grassia C, Rambaldi PF, Oostra BA, Perrotta S.

Pediatr Nephrol. 2008 Apr;23(4):587-95. doi: 10.1007/s00467-007-0675-z. Epub 2008 Jan 16.

38.

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.

Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ.

Hum Genet. 2008 Jan;122(6):595-603. Epub 2007 Oct 16.

PMID:
17938964
39.

Identification, developmental expression and regulation of the Xenopus ortholog of human FANCG/XRCC9.

Stone S, Sobeck A, van Kogelenberg M, de Graaf B, Joenje H, Christian J, Hoatlin ME.

Genes Cells. 2007 Jul;12(7):841-51.

40.

Self-incompatibility in Papaver targets soluble inorganic pyrophosphatases in pollen.

de Graaf BH, Rudd JJ, Wheeler MJ, Perry RM, Bell EM, Osman K, Franklin FC, Franklin-Tong VE.

Nature. 2006 Nov 23;444(7118):490-3. Epub 2006 Nov 5.

PMID:
17086195
41.

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, van Langen I, Heutink P, Oostra BA, Hofstra RM, Bertoli-Avella AM.

J Med Genet. 2006 Jul;43(7):e35.

42.

Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks.

Sobeck A, Stone S, Costanzo V, de Graaf B, Reuter T, de Winter J, Wallisch M, Akkari Y, Olson S, Wang W, Joenje H, Christian JL, Lupardus PJ, Cimprich KA, Gautier J, Hoatlin ME.

Mol Cell Biol. 2006 Jan;26(2):425-37.

43.

Rab11 GTPase-regulated membrane trafficking is crucial for tip-focused pollen tube growth in tobacco.

de Graaf BH, Cheung AY, Andreyeva T, Levasseur K, Kieliszewski M, Wu HM.

Plant Cell. 2005 Sep;17(9):2564-79. Epub 2005 Aug 12.

44.

Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.

Mostert AK, Dijkstra PF, Jansen BR, van Horn JR, de Graaf B, Heutink P, Lindhout D.

Am J Med Genet A. 2003 Aug 1;120A(4):490-7.

PMID:
12884427
45.

Investigating mechanisms involved in the self-incompatibility response in Papaver rhoeas.

Thomas S, Osman K, de Graaf BH, Shevchenko G, Wheeler M, Franklin C, Franklin-Tong N.

Philos Trans R Soc Lond B Biol Sci. 2003 Jun 29;358(1434):1033-6.

46.

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P.

Am J Hum Genet. 2003 Jan;72(1):191-9. Epub 2002 Dec 13. Erratum in: Am J Hum Genet. 2003 Apr;72(4):1078.

47.

Characterization and localization of the transmitting tissue-specific PELPIII proteins of Nicotiana tabacum.

de Graaf BH, Knuiman BA, Derksen J, Mariani C.

J Exp Bot. 2003 Jan;54(380):55-63.

PMID:
12456755
48.

Eye movements to yaw, pitch, and roll about vertical and horizontal axes: adaptation and motion sickness.

Bos JE, Bles W, de Graaf B.

Aviat Space Environ Med. 2002 May;73(5):436-44.

PMID:
12014602
49.

Rab2 GTPase regulates vesicle trafficking between the endoplasmic reticulum and the Golgi bodies and is important to pollen tube growth.

Cheung AY, Chen CY, Glaven RH, de Graaf BH, Vidali L, Hepler PK, Wu HM.

Plant Cell. 2002 Apr;14(4):945-62.

50.

Hydroxyproline-rich glycoproteins in plant reproductive tissues: structure, functions and regulation.

Wu H, de Graaf B, Mariani C, Cheung AY.

Cell Mol Life Sci. 2001 Sep;58(10):1418-29. Review.

PMID:
11693523

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