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Items: 1 to 50 of 234

1.

The development and validation of a cerebral ultrasound scoring system for infants with hypoxic-ischaemic encephalopathy.

Annink KV, de Vries LS, Groenendaal F, Vijlbrief DC, Weeke LC, Roehr CC, Lequin M, Reiss I, Govaert P, Benders MJNL, Dudink J.

Pediatr Res. 2020 Mar;87(Suppl 1):59-66. doi: 10.1038/s41390-020-0782-0.

2.

Complications in cranioplasty after decompressive craniectomy: timing of the intervention.

Goedemans T, Verbaan D, van der Veer O, Bot M, Post R, Hoogmoed J, Lequin MB, Buis DR, Vandertop WP, Coert BA, van den Munckhof P.

J Neurol. 2020 Jan 17. doi: 10.1007/s00415-020-09695-6. [Epub ahead of print]

PMID:
31953606
3.

Cerebral blood flow in children with syndromic craniosynostosis: cohort arterial spin labeling studies.

Doerga PN, Lequin MH, Dremmen MHG, den Ottelander BK, Mauff KAL, Wagner MW, Hernandez-Tamames JA, Versnel SL, Joosten KFM, van Veelen MC, Tasker RC, Mathijssen IMJ.

J Neurosurg Pediatr. 2019 Dec 27:1-11. doi: 10.3171/2019.10.PEDS19150. [Epub ahead of print]

PMID:
31881544
4.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Vandervore LV, Schot R, Milanese C, Smits DJ, Kasteleijn E, Fry AE, Pilz DT, Brock S, Börklü-Yücel E, Post M, Bahi-Buisson N, Sánchez-Soler MJ, van Slegtenhorst M, Keren B, Afenjar A, Coury SA, Tan WH, Oegema R, de Vries LS, Fawcett KA, Nikkels PGJ, Bertoli-Avella A, Al Hashem A, Alwabel AA, Tlili-Graiess K, Efthymiou S, Zafar F, Rana N, Bibi F, Houlden H, Maroofian R, Person RE, Crunk A, Savatt JM, Turner L, Doosti M, Karimiani EG, Saadi NW, Akhondian J, Lequin MH, Kayserili H, van der Spek PJ, Jansen AC, Kros JM, Verdijk RM, Milošević NJ, Fornerod M, Mastroberardino PG, Mancini GMS.

Am J Hum Genet. 2019 Dec 5;105(6):1126-1147. doi: 10.1016/j.ajhg.2019.10.009. Epub 2019 Nov 14.

PMID:
31735293
5.

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH.

Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11.

6.

Signal Change in the Mammillary Bodies after Perinatal Asphyxia.

Molavi M, Vann SD, de Vries LS, Groenendaal F, Lequin M.

AJNR Am J Neuroradiol. 2019 Nov;40(11):1829-1834. doi: 10.3174/ajnr.A6232. Epub 2019 Nov 6.

PMID:
31694818
7.

Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type.

Ramaglia A, Tortora D, Mankad K, Lequin M, Severino M, D'Arco F, Löbel U, Benenati M, de Leng WWJ, De Marco P, Milanaccio C, Rossi A, Morana G.

Neuroradiology. 2020 Jan;62(1):71-80. doi: 10.1007/s00234-019-02304-y. Epub 2019 Oct 30.

PMID:
31667545
8.

MRI-guided definition of cerebrospinal fluid distribution around cranial and sacral nerves: implications for brain tumors and craniospinal irradiation.

Wood AM, Lequin MH, Philippens MM, Seravalli E, Plasschaert SL, van den Heuvel-Eibrink MM, Janssens GO.

Acta Oncol. 2019 Dec;58(12):1740-1744. doi: 10.1080/0284186X.2019.1667023. Epub 2019 Sep 17.

PMID:
31526171
9.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

10.

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol.

den Ottelander BK, de Goederen R, van Veelen MC, van de Beeten SDC, Lequin MH, Dremmen MHG, Loudon SE, Telleman MAJ, de Gier HHW, Wolvius EB, Tjoa STH, Versnel SL, Joosten KFM, Mathijssen IMJ.

J Neurosurg Pediatr. 2019 Jul 19:1-8. doi: 10.3171/2019.5.PEDS1969. [Epub ahead of print]

PMID:
31323628
11.

Reply to Letter.

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

Neonatology. 2019;115(3):277. doi: 10.1159/000495914. Epub 2019 Feb 13. No abstract available.

12.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R.

JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941.

13.

Added value of arterial spin labeling magnetic resonance imaging in pediatric neuroradiology: pitfalls and applications.

Keil VC, Hartkamp NS, Connolly DJA, Morana G, Dremmen MHG, Mutsaerts HJMM, Lequin MH.

Pediatr Radiol. 2019 Feb;49(2):245-253. doi: 10.1007/s00247-018-4269-7. Epub 2018 Nov 17. Review.

PMID:
30448868
14.

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
15.

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

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

Neonatology. 2019;115(1):89-93. doi: 10.1159/000493003. Epub 2018 Oct 23.

16.

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. 2019 Jan;23(1):181-190. doi: 10.1016/j.ejpn.2018.09.001. Epub 2018 Sep 12.

PMID:
30279083
17.

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.

18.

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.

19.

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
20.

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
21.

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.

22.

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.

23.

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
24.

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.

25.

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.

26.

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
27.

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.

28.

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
29.

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
30.

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.

31.

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
32.

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.

33.

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
34.

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
35.

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.

36.

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.

37.

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.

38.

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
39.

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
40.

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
41.

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
42.

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.

43.

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.

44.

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
45.

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
46.

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.

47.

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.

48.

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.

49.

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
50.

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.

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