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Items: 1 to 50 of 221

1.

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 Oct 31. pii: S1769-7212(17)30655-9. doi: 10.1016/j.ejmg.2018.10.018. [Epub ahead of print]

PMID:
30391508
2.

The Value of Autopsy in Neonates in the 21st Century.

de Sévaux JLH, Nikkels PGJ, Lequin MH, Groenendaal F.

Neonatology. 2018 Oct 23;115(1):89-93. doi: 10.1159/000493003. [Epub ahead of print]

3.

Electroencephalography and brain magnetic resonance imaging in asphyxia comparing cooled and non-cooled infants.

De Wispelaere LA, Ouwehand S, Olsthoorn M, Govaert P, Smit LS, de Jonge RC, Lequin MH, Reiss IK, Dudink J.

Eur J Paediatr Neurol. 2018 Sep 12. pii: S1090-3798(18)30024-2. doi: 10.1016/j.ejpn.2018.09.001. [Epub ahead of print]

PMID:
30279083
4.

Skin Augmentation as a Last-Resort Operative Technique During Decompressive Craniectomy.

Goedemans T, van der Veer O, Verbaan D, Bot M, Lequin MB, Coert BA, van Furth WR, Bouma GJ, Vandertop WP, Buis DR, van den Munckhof P.

World Neurosurg. 2018 Nov;119:e417-e428. doi: 10.1016/j.wneu.2018.07.177. Epub 2018 Jul 30.

5.

MRI Changes in the Thalamus and Basal Ganglia of Full-Term Neonates with Perinatal Asphyxia.

Imai K, de Vries LS, Alderliesten T, Wagenaar N, van der Aa NE, Lequin MH, Benders MJNL, van Haastert IC, Groenendaal F.

Neonatology. 2018;114(3):253-260. doi: 10.1159/000489159. Epub 2018 Jun 29.

6.

Bedside Ultrasound-Guided Percutaneous Needle Aspiration of Intra- and Extra-Axial Intracranial Hemorrhage in Neonates.

Cizmeci MN, Thewissen L, Zecic A, Woerdeman PA, Boer B, Baert E, Govaert P, Dudink J, Groenendaal F, Lequin M, de Vries LS.

Neuropediatrics. 2018 Aug;49(4):238-245. doi: 10.1055/s-0038-1641568. Epub 2018 Apr 24.

PMID:
29689584
7.

Pilot study of intracranial venous physiology in craniosynostosis.

Cornelissen MJ, de Goederen R, Doerga P, Cuperus I, van Veelen ML, Lequin M, Govaert P, Mathijssen IMJ, Dudink J, Tasker RC.

J Neurosurg Pediatr. 2018 Jun;21(6):626-631. doi: 10.3171/2018.1.PEDS17480. Epub 2018 Apr 6.

PMID:
29624144
8.

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies.

Cizmeci MN, Lequin M, Lichtenbelt KD, Chitayat D, Kannu P, James AG, Groenendaal F, Chakkarapani E, Blaser S, de Vries LS.

AJNR Am J Neuroradiol. 2018 Jun;39(6):1146-1152. doi: 10.3174/ajnr.A5611. Epub 2018 Apr 5.

PMID:
29622558
9.

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Ebbink BJ, Poelman E, Aarsen FK, Plug I, Régal L, Muentjes C, van der Beek NAME, Lequin MH, van der Ploeg AT, van den Hout JMP.

Dev Med Child Neurol. 2018 Jun;60(6):579-586. doi: 10.1111/dmcn.13740. Epub 2018 Mar 24.

PMID:
29573408
10.

Pediatric astrocytic tumor grading: comparison between arterial spin labeling and dynamic susceptibility contrast MRI perfusion.

Morana G, Tortora D, Staglianò S, Nozza P, Mascelli S, Severino M, Piatelli G, Consales A, Lequin M, Garrè ML, Rossi A.

Neuroradiology. 2018 Apr;60(4):437-446. doi: 10.1007/s00234-018-1992-6. Epub 2018 Feb 16.

PMID:
29453753
11.

Neonatal subcortical bruising.

Delanghe G, Squier W, Sonnaert M, Dudink J, Lequin M, Govaert P.

Clin Case Rep. 2018 Jan 15;6(2):407-415. doi: 10.1002/ccr3.1360. eCollection 2018 Feb.

12.

A Novel Magnetic Resonance Imaging Score Predicts Neurodevelopmental Outcome After Perinatal Asphyxia and Therapeutic Hypothermia.

Weeke LC, Groenendaal F, Mudigonda K, Blennow M, Lequin MH, Meiners LC, van Haastert IC, Benders MJ, Hallberg B, de Vries LS.

J Pediatr. 2018 Jan;192:33-40.e2. doi: 10.1016/j.jpeds.2017.09.043.

13.

Paleoanthropology's uses of the bipedal criterion.

Lequin M.

Hist Philos Life Sci. 2017 Nov 22;40(1):7. doi: 10.1007/s40656-017-0172-z.

PMID:
29168074
14.

Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study.

Mous SE, Overwater IE, Vidal Gato R, Duvekot J, Ten Hoopen LW, Lequin MH, de Wit MY, Dieleman GC.

Eur Child Adolesc Psychiatry. 2018 Jun;27(6):753-765. doi: 10.1007/s00787-017-1066-z. Epub 2017 Oct 23.

15.

Safety of Contrast Material Use in Children.

Soares BP, Lequin MH, Huisman TAGM.

Magn Reson Imaging Clin N Am. 2017 Nov;25(4):779-785. doi: 10.1016/j.mric.2017.06.009. Epub 2017 Sep 8. Review.

PMID:
28964467
16.

Very Long-term Sequelae After Nonradical Surgery Combined With Brachytherapy in an Infant With a Chemotherapy-resistant Rhabdomyosarcoma of the Tongue.

van Rijswijk PM, van den Heuvel-Eibrink MM, van den Akker ELT, Slagter C, Lequin MH, Aarsen FK, van Atteveld JE, Wagner A, van Grotel M.

J Pediatr Hematol Oncol. 2017 Oct;39(7):566-569. doi: 10.1097/MPH.0000000000000935.

PMID:
28859029
17.

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.

18.

Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria.

Ardemani G, Govaert P, Oussoren E, Dorresteijn E, Wildschut E, Lequin M, Dudink J.

Eur J Paediatr Neurol. 2017 Sep;21(5):792-794. doi: 10.1016/j.ejpn.2017.06.003. Epub 2017 Jun 15.

PMID:
28651815
19.

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.

20.

Insight into the Pathophysiologic Mechanisms behind Cognitive Dysfunction in Trigonocephaly.

van der Vlugt JJ, van der Meulen JJ, van den Braak RR, Vermeij-Keers C, Horstman EG, Hovius SE, Verhulst FC, Wierdsma AI, Lequin MH, Okkerse JM.

Plast Reconstr Surg. 2017 Apr;139(4):954e-964e. doi: 10.1097/PRS.0000000000003179.

PMID:
28350677
21.

Advanced MR Imaging in Pediatric Brain Tumors, Clinical Applications.

Lequin M, Hendrikse J.

Neuroimaging Clin N Am. 2017 Feb;27(1):167-190. doi: 10.1016/j.nic.2016.08.007. Review.

PMID:
27889022
22.

Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

Overwater IE, Swenker R, van der Ende EL, Hanemaayer KB, Hoogeveen-Westerveld M, van Eeghen AM, Lequin MH, van den Ouweland AM, Moll HA, Nellist M, de Wit MY.

Eur J Hum Genet. 2016 Dec;24(12):1688-1695. doi: 10.1038/ejhg.2016.85. Epub 2016 Jul 13.

23.

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.

24.

A New Ultrasound Marker for Bedside Monitoring of Preterm Brain Growth.

Roelants JA, Koning IV, Raets MM, Willemsen SP, Lequin MH, Steegers-Theunissen RP, Reiss IK, Vermeulen MJ, Govaert P, Dudink J.

AJNR Am J Neuroradiol. 2016 Aug;37(8):1516-22. doi: 10.3174/ajnr.A4731. Epub 2016 Mar 17.

25.

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge.

Ebbink BJ, Poelman E, Plug I, Lequin MH, van Doorn PA, Aarsen FK, van der Ploeg AT, van den Hout JM.

Neurology. 2016 Mar 29;86(13):1260-1. doi: 10.1212/WNL.0000000000002523. Epub 2016 Mar 4. No abstract available.

PMID:
26944269
26.

Abnormal transcranial Doppler cerebral blood flow velocity and blood pressure profiles in children with syndromic craniosynostosis and papilledema.

Spruijt B, Tasker RC, Driessen C, Lequin MH, van Veelen ML, Mathijssen IM, Joosten KF.

J Craniomaxillofac Surg. 2016 Apr;44(4):465-70. doi: 10.1016/j.jcms.2016.01.001. Epub 2016 Jan 11.

PMID:
26857754
27.

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
28.

Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series.

Niwa T, de Vries LS, Manten GT, Lequin M, Cuppen I, Shibasaki J, Aida N.

Neuropediatrics. 2016 Apr;47(2):115-8. doi: 10.1055/s-0035-1570752. Epub 2016 Jan 25.

PMID:
26808679
29.

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

Ebbink BJ, Brands MM, van den Hout JM, Lequin MH, Coebergh van den Braak RR, van de Weitgraven RL, Plug I, Aarsen FK, van der Ploeg AT.

J Inherit Metab Dis. 2016 Mar;39(2):285-92. doi: 10.1007/s10545-015-9895-8. Epub 2015 Oct 8.

30.

Aggravated bone density decline following symptomatic osteonecrosis in children with acute lymphoblastic leukemia.

den Hoed MA, Pluijm SM, te Winkel ML, de Groot-Kruseman HA, Fiocco M, Hoogerbrugge P, Leeuw JA, Bruin MC, van der Sluis IM, Bresters D, Lequin MH, Roos JC, Veerman AJ, Pieters R, van den Heuvel-Eibrink MM.

Haematologica. 2015 Dec;100(12):1564-70. doi: 10.3324/haematol.2015.125583. Epub 2015 Sep 24.

31.

Screening and Treatment of Tethered Spinal Cord in Anorectal Malformation Patients.

van den Hondel D, Sloots C, de Jong TH, Lequin M, Wijnen R.

Eur J Pediatr Surg. 2016 Feb;26(1):22-8. doi: 10.1055/s-0035-1563673. Epub 2015 Sep 21.

PMID:
26394371
32.

First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?

Spruijt B, Rijken BF, den Ottelander BK, Joosten KF, Lequin MH, Loudon SE, van Veelen ML, Mathijssen IM.

Plast Reconstr Surg. 2016 Jan;137(1):112e-121e. doi: 10.1097/PRS.0000000000001894.

PMID:
26368328
33.

Magnetic resonance imaging in children: common problems and possible solutions for lung and airways imaging.

Ciet P, Tiddens HA, Wielopolski PA, Wild JM, Lee EY, Morana G, Lequin MH.

Pediatr Radiol. 2015 Dec;45(13):1901-15. doi: 10.1007/s00247-015-3420-y. Epub 2015 Sep 5. Review.

34.

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA; WGS500 Consortium, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007.

35.

Neurodevelopmental outcome after neonatal perforator stroke.

Ecury-Goossen GM, van der Haer M, Smit LS, Feijen-Roon M, Lequin M, de Jonge RC, Govaert P, Dudink J.

Dev Med Child Neurol. 2016 Jan;58(1):49-56. doi: 10.1111/dmcn.12857. Epub 2015 Jul 26.

36.

The formation of the foramen magnum and its role in developing ventriculomegaly and Chiari I malformation in children with craniosynostosis syndromes.

Rijken BF, Lequin MH, Van Veelen ML, de Rooi J, Mathijssen IM.

J Craniomaxillofac Surg. 2015 Sep;43(7):1042-8. doi: 10.1016/j.jcms.2015.04.025. Epub 2015 May 8.

PMID:
26051848
37.

High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography.

Thomeer MG, Devos A, Lequin M, De Graaf N, Meeussen CJ, Meradji M, De Blaauw I, Sloots CE.

Eur Radiol. 2015 Dec;25(12):3472-9. doi: 10.1007/s00330-015-3786-0. Epub 2015 May 23.

38.

The role of the posterior fossa in developing Chiari I malformation in children with craniosynostosis syndromes.

Rijken BF, Lequin MH, van der Lijn F, van Veelen-Vincent ML, de Rooi J, Hoogendam YY, Niessen WJ, Mathijssen IM.

J Craniomaxillofac Surg. 2015 Jul;43(6):813-9. doi: 10.1016/j.jcms.2015.04.001. Epub 2015 Apr 14.

PMID:
25979575
39.

Diffusion Tensor Imaging and Fiber Tractography in Children with Craniosynostosis Syndromes.

Rijken BF, Leemans A, Lucas Y, van Montfort K, Mathijssen IM, Lequin MH.

AJNR Am J Neuroradiol. 2015 Aug;36(8):1558-64. doi: 10.3174/ajnr.A4301. Epub 2015 May 7.

40.

The occipitofrontal circumference: reliable prediction of the intracranial volume in children with syndromic and complex craniosynostosis.

Rijken BF, den Ottelander BK, van Veelen ML, Lequin MH, Mathijssen IM.

Neurosurg Focus. 2015 May;38(5):E9. doi: 10.3171/2015.2.FOCUS14846.

PMID:
25929971
41.

Data quality in diffusion tensor imaging studies of the preterm brain: a systematic review.

Pieterman K, Plaisier A, Govaert P, Leemans A, Lequin MH, Dudink J.

Pediatr Radiol. 2015 Aug;45(9):1372-81. doi: 10.1007/s00247-015-3307-y. Epub 2015 Mar 29. Review.

42.

Splenorenal collaterals as hallmark for a twisted wandering spleen in a 14-year-old girl with abdominal pain: a case report.

Rellum R, Risseeuw G, Blaauw Id, Lequin M.

European J Pediatr Surg Rep. 2014 Jun;2(1):26-8. doi: 10.1055/s-0034-1370776. Epub 2014 Mar 28.

43.

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM.

Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Review.

PMID:
25719457
44.

Serial cranial ultrasonography or early MRI for detecting preterm brain injury?

Plaisier A, Raets MM, Ecury-Goossen GM, Govaert P, Feijen-Roon M, Reiss IK, Smit LS, Lequin MH, Dudink J.

Arch Dis Child Fetal Neonatal Ed. 2015 Jul;100(4):F293-300. doi: 10.1136/archdischild-2014-306129. Epub 2015 Jan 30.

PMID:
25637006
45.

Venous hypertension in syndromic and complex craniosynostosis: the abnormal anatomy of the jugular foramen and collaterals.

Florisson JM, Barmpalios G, Lequin M, van Veelen ML, Bannink N, Hayward RD, Mathijssen IM.

J Craniomaxillofac Surg. 2015 Apr;43(3):312-8. doi: 10.1016/j.jcms.2014.11.023. Epub 2014 Dec 12.

PMID:
25604402
46.

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
47.

Atypical presentation of a newborn with Apert syndrome.

Spruijt B, Rijken BF, Joosten KF, Bredero-Boelhouwer HH, Pullens B, Lequin MH, Wolvius EB, van Veelen-Vincent ML, Mathijssen IM.

Childs Nerv Syst. 2015 Mar;31(3):481-6. doi: 10.1007/s00381-014-2601-6. Epub 2014 Nov 30.

PMID:
25433548
48.

Brain vein disorders in newborn infants.

Raets M, Dudink J, Raybaud C, Ramenghi L, Lequin M, Govaert P.

Dev Med Child Neurol. 2015 Mar;57(3):229-40. doi: 10.1111/dmcn.12579. Epub 2014 Sep 12. Review.

49.

Advanced pediatric cardiac imaging.

Nievelstein RA, Lequin MH.

Pediatr Radiol. 2015 Jan;45(1):4. doi: 10.1007/s00247-014-3056-3. Epub 2014 Aug 30. No abstract available.

PMID:
25172005
50.

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

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