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Items: 48

1.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.

Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Erratum in: Brain. 2019 Jun 1;142(6):e29.

2.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS.

Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.

3.

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS.

Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31.

PMID:
30391508
4.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.

Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.

5.

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug.

6.

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS.

Am J Med Genet A. 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240.

PMID:
28544736
7.

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017 Aug 1;13(8):e1006923.

8.

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.

Stroobants S, Van Acker NG, Verheijen FW, Goris I, Daneels GF, Schot R, Verbeek E, Knaapen MW, De Bondt A, Göhlmann HW, Crauwels ML, Mancini GM, Andries LJ, Moechars DW, D'Hooge R.

Exp Neurol. 2017 May;291:106-119. doi: 10.1016/j.expneurol.2017.02.009. Epub 2017 Feb 9.

9.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

10.

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Mancini GM, Schot R, de Wit MC, de Coo RF, Oostenbrink R, Bindels-de Heus K, Berger LP, Lequin MH, de Vries FA, Wilke M, van Slegtenhorst MA.

Neurology. 2016 Mar 1;86(9):877-8. doi: 10.1212/WNL.0000000000002422. Epub 2016 Feb 3. No abstract available.

PMID:
26843564
11.

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJ, Lequin MH, Bindels-de Heus K, Sibbles BJ, de Coo R, Brooks A, Mancini GM.

Mol Genet Metab. 2015 Mar;114(3):467-73. doi: 10.1016/j.ymgme.2014.11.018. Epub 2014 Dec 5.

PMID:
25523067
12.

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, Verheijen FW, Galjart N, Morris-Rosendahl DJ, Mancini GM.

Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19.

PMID:
24842779
13.

CD24(hi)CD27(+) B cells from patients with allergic asthma have impaired regulatory activity in response to lipopolysaccharide.

van der Vlugt LE, Mlejnek E, Ozir-Fazalalikhan A, Janssen Bonas M, Dijksman TR, Labuda LA, Schot R, Guigas B, Möller GM, Hiemstra PS, Yazdanbakhsh M, Smits HH.

Clin Exp Allergy. 2014 Apr;44(4):517-28. doi: 10.1111/cea.12238.

PMID:
24261983
14.

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS.

Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19.

PMID:
23873601
15.

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

Poulton C, Oegema R, Heijsman D, Hoogeboom J, Schot R, Stroink H, Willemsen MA, Verheijen FW, van de Spek P, Kremer A, Mancini GM.

Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351-8. Epub 2012 Dec 9.

PMID:
23224214
16.

RTTN mutations link primary cilia function to organization of the human cerebral cortex.

Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM.

Am J Hum Genet. 2012 Sep 7;91(3):533-40. doi: 10.1016/j.ajhg.2012.07.008. Epub 2012 Aug 30.

17.

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

Oegema R, Maat-Kievit A, Lequin MH, Schot R, Nanninga-van den Neste VM, Doornbos ME, de Wit MC, Halley DJ, Mancini GM.

Am J Med Genet A. 2012 Jun;158A(6):1472-6. doi: 10.1002/ajmg.a.35365. Epub 2012 May 14.

PMID:
22585566
18.

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.

19.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

20.

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

Poulton CJ, Schot R, Kia SK, Jones M, Verheijen FW, Venselaar H, de Wit MC, de Graaff E, Bertoli-Avella AM, Mancini GM.

Am J Hum Genet. 2011 Aug 12;89(2):265-76. doi: 10.1016/j.ajhg.2011.07.006.

21.

A longitudinal study of allergy and intestinal helminth infections in semi urban and rural areas of Flores, Indonesia (ImmunoSPIN Study).

Hamid F, Wiria AE, Wammes LJ, Kaisar MM, Lell B, Ariawan I, Uh HW, Wibowo H, Djuardi Y, Wahyuni S, Schot R, Verweij JJ, van Ree R, May L, Sartono E, Yazdanbakhsh M, Supali T.

BMC Infect Dis. 2011 Apr 1;11:83. doi: 10.1186/1471-2334-11-83.

22.

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.

Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM.

Neurology. 2011 Mar 1;76(9):844-6. doi: 10.1212/WNL.0b013e31820e7751. No abstract available.

PMID:
21357838
23.

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, Wessels MW, Mancini GM.

Mol Syndromol. 2010 Sep;1(3):113-120. Epub 2010 Sep 14.

24.

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.

Visser WE, Swagemakers SM, Ozgur Z, Schot R, Verheijen FW, van Ijcken WF, van der Spek PJ, Visser TJ.

Hum Mol Genet. 2010 Nov 1;19(21):4189-200. doi: 10.1093/hmg/ddq337. Epub 2010 Aug 12.

25.

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

Verkerk AJ, Schot R, van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, de Vries LS, Terhal P, Hahnemann JM, de Coo IF, de Wit MC, Wafelman LS, Garavelli L, Dobyns WB, Van der Spek PJ, de Klein A, Mancini GM.

Am J Med Genet A. 2010 Jun;152A(6):1488-97. doi: 10.1002/ajmg.a.33408.

26.

Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.

de Wit MC, de Coo IF, Schot R, Hoogeboom AJ, Lequin MH, Verkerk AJ, Mancini GM.

Am J Med Genet A. 2010 Apr;152A(4):954-9. doi: 10.1002/ajmg.a.33258.

PMID:
20358608
27.

KBG syndrome associated with periventricular nodular heterotopia.

Oegema R, Schot R, de Wit MC, Lequin MH, Oostenbrink R, de Coo IF, Mancini GM.

Clin Dysmorphol. 2010 Jul;19(3):164-5. doi: 10.1097/MCD.0b013e3283387b3b. No abstract available.

PMID:
20354438
28.

Comparison of exhaled breath condensate pH using two commercially available devices in healthy controls, asthma and COPD patients.

Koczulla R, Dragonieri S, Schot R, Bals R, Gauw SA, Vogelmeier C, Rabe KF, Sterk PJ, Hiemstra PS.

Respir Res. 2009 Aug 24;10:78. doi: 10.1186/1465-9921-10-78.

29.

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM.

Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25.

30.

An electronic nose in the discrimination of patients with non-small cell lung cancer and COPD.

Dragonieri S, Annema JT, Schot R, van der Schee MP, Spanevello A, Carratú P, Resta O, Rabe KF, Sterk PJ.

Lung Cancer. 2009 May;64(2):166-70. doi: 10.1016/j.lungcan.2008.08.008. Epub 2008 Oct 1.

PMID:
18834643
31.

Enhanced airway dilation by positive-pressure inflation of the lungs compared with active deep inspiration in patients with asthma.

Slats AM, Janssen K, de Jeu RC, van der Plas DT, Schot R, van den Aardweg JG, Sterk PJ.

J Appl Physiol (1985). 2008 Dec;105(6):1725-32. doi: 10.1152/japplphysiol.01237.2007. Epub 2008 Sep 18.

32.

Expression of smooth muscle and extracellular matrix proteins in relation to airway function in asthma.

Slats AM, Janssen K, van Schadewijk A, van der Plas DT, Schot R, van den Aardweg JG, de Jongste JC, Hiemstra PS, Mauad T, Rabe KF, Sterk PJ.

J Allergy Clin Immunol. 2008 May;121(5):1196-202. doi: 10.1016/j.jaci.2008.02.017. Epub 2008 Apr 11.

PMID:
18405955
33.

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

de Wit MC, Lequin MH, de Coo IF, Brusse E, Halley DJ, van de Graaf R, Schot R, Verheijen FW, Mancini GM.

Arch Neurol. 2008 Mar;65(3):358-66. doi: 10.1001/archneur.65.3.358.

PMID:
18332248
34.

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G, Dobyns WB, Neri G.

Neuropediatrics. 2007 Aug;38(4):200-3.

PMID:
18058629
35.

A syringe simulation of biological controls for quality assessment of prospective lung volume measurements.

Ninaber MK, Schot R, Fregonese L, Stolk J.

Respiration. 2008;76(2):187-92. Epub 2007 Dec 6.

PMID:
18057863
36.

An electronic nose in the discrimination of patients with asthma and controls.

Dragonieri S, Schot R, Mertens BJ, Le Cessie S, Gauw SA, Spanevello A, Resta O, Willard NP, Vink TJ, Rabe KF, Bel EH, Sterk PJ.

J Allergy Clin Immunol. 2007 Oct;120(4):856-62. Epub 2007 Jul 20.

PMID:
17658592
37.

Bronchial inflammation and airway responses to deep inspiration in asthma and chronic obstructive pulmonary disease.

Slats AM, Janssen K, van Schadewijk A, van der Plas DT, Schot R, van den Aardweg JG, de Jongste JC, Hiemstra PS, Mauad T, Rabe KF, Sterk PJ.

Am J Respir Crit Care Med. 2007 Jul 15;176(2):121-8. Epub 2007 Mar 22.

PMID:
17379851
38.

Alveolar nitric oxide versus measures of peripheral airway dysfunction in severe asthma.

van Veen IH, Sterk PJ, Schot R, Gauw SA, Rabe KF, Bel EH.

Eur Respir J. 2006 May;27(5):951-6. Epub 2006 Jan 30.

39.

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM.

Mol Genet Metab. 2006 Feb;87(2):102-6. Epub 2005 Nov 4.

PMID:
16275149
40.

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M.

Neurogenetics. 2005 Dec;6(4):195-9. Epub 2005 Sep 17.

PMID:
16170568
41.

Automatic negative evaluation of suffocation sensations in individuals with suffocation fear.

Kroeze S, Van der Does AJ, Spinhoven P, Schot R, Sterk PJ, Van den Aardweg JG.

J Abnorm Psychol. 2005 Aug;114(3):466-70.

PMID:
16117583
42.

Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.

Yarovaya N, Schot R, Fodero L, McMahon M, Mahoney A, Williams R, Verbeek E, de Bondt A, Hampson M, van der Spek P, Stubbs A, Masters CL, Verheijen FW, Mancini GM, Venter DJ.

Neurobiol Dis. 2005 Aug;19(3):351-65.

PMID:
16023578
43.

Real-time MR imaging of aortic flow: influence of breathing on left ventricular stroke volume in chronic obstructive pulmonary disease.

van den Hout RJ, Lamb HJ, van den Aardweg JG, Schot R, Steendijk P, van der Wall EE, Bax JJ, de Roos A.

Radiology. 2003 Nov;229(2):513-9. Epub 2003 Oct 2.

PMID:
14526092
44.

Relationship between exhaled nitric oxide and airway hyperresponsiveness following experimental rhinovirus infection in asthmatic subjects.

de Gouw HW, Grünberg K, Schot R, Kroes AC, Dick EC, Sterk PJ.

Eur Respir J. 1998 Jan;11(1):126-32.

45.

Relationship between loss in parenchymal elastic recoil pressure and maximal airway narrowing in subjects with alpha1-antitrypsin deficiency.

Cheung D, Schot R, Zwinderman AH, Zagers H, Dijkman JH, Sterk PJ.

Am J Respir Crit Care Med. 1997 Jan;155(1):135-40.

PMID:
9001302
46.

Effects of 24R,25-dihydroxyvitamin D3 in combination with 1 alpha-hydroxyvitamin D3 in predialysis renal insufficiency: biochemistry and histomorphometry of cancellous bone.

Birkenhäger-Frenkel DH, Pols HA, Zeelenberg J, Eijgelsheim JJ, Schot R, Nigg AL, Weimar W, Mulder PG, Birkenhäger JC.

J Bone Miner Res. 1995 Feb;10(2):197-204.

PMID:
7754799
48.

Cell length measurements in longitudinal smooth muscle strips of the pig urinary bladder.

van Asselt E, Schot R, van Mastrigt R.

Urol Res. 1993;21(4):253-6.

PMID:
8212411

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