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Items: 1 to 50 of 184

1.

Incontinence and psychological symptoms in Phelan-McDermid syndrome.

Hussong J, Wagner C, Curfs L, von Gontard A.

Neurourol Urodyn. 2020 Jan;39(1):310-318. doi: 10.1002/nau.24197. Epub 2019 Oct 29.

PMID:
31663160
2.

Towards a consensus on developmental regression.

Zhang D, Bedogni F, Boterberg S, Camfield C, Camfield P, Charman T, Curfs L, Einspieler C, Esposito G, De Filippis B, Goin-Kochel RP, Höglinger GU, Holzinger D, Iosif AM, Lancioni GE, Landsberger N, Laviola G, Marco EM, Müller M, Neul JL, Nielsen-Saines K, Nordahl-Hansen A, O'Reilly MF, Ozonoff S, Poustka L, Roeyers H, Rankovic M, Sigafoos J, Tammimies K, Townend GS, Zwaigenbaum L, Zweckstetter M, Bölte S, Marschik PB.

Neurosci Biobehav Rev. 2019 Dec;107:3-5. doi: 10.1016/j.neubiorev.2019.08.014. Epub 2019 Aug 20. No abstract available.

PMID:
31442516
3.
4.

Rett syndrome and developmental regression.

Smeets EE, Townend GS, Curfs LMG.

Neurosci Biobehav Rev. 2019 Sep;104:100-101. doi: 10.1016/j.neubiorev.2019.06.038. Epub 2019 Jul 5. No abstract available.

PMID:
31283952
5.

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes.

Ehrhart F, Coort SL, Eijssen L, Cirillo E, Smeets EE, Bahram Sangani N, Evelo CT, Curfs LMG.

World J Biol Psychiatry. 2019 Mar 25:1-14. doi: 10.1080/15622975.2019.1593501. [Epub ahead of print]

PMID:
30907210
6.

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome.

Miller RA, Ehrhart F, Eijssen LMT, Slenter DN, Curfs LMG, Evelo CT, Willighagen EL, Kutmon M.

Front Genet. 2019 Feb 21;10:59. doi: 10.3389/fgene.2019.00059. eCollection 2019.

7.

Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography.

de Breet LHM, Townend GS, Curfs LMG, Kingma H, Smeets EEJ, Lucieer F, Widdershoven J, van de Berg R.

Eur J Paediatr Neurol. 2019 Mar;23(2):262-269. doi: 10.1016/j.ejpn.2018.12.003. Epub 2018 Dec 18.

PMID:
30635145
8.

Systematic literature review on which maternal alcohol behaviours are related to fetal alcohol spectrum disorders (FASD).

Roozen S, Peters GY, Kok G, Townend D, Nijhuis J, Koek G, Curfs L.

BMJ Open. 2018 Dec 19;8(12):e022578. doi: 10.1136/bmjopen-2018-022578.

9.

Oculomotor Function in Individuals With Rett Syndrome.

Townend GS, van de Berg R, de Breet LHM, Hiemstra M, Wagter L, Smeets E, Widdershoven J, Kingma H, Curfs LMG.

Pediatr Neurol. 2018 Nov;88:48-58. doi: 10.1016/j.pediatrneurol.2018.08.022. Epub 2018 Aug 30.

10.

Women Who Love: An Explorative Study on Experiences of Lesbian and Bisexual Women with a Mild Intellectual Disability in The Netherlands.

Stoffelen JMT, Schaafsma D, Kok G, Curfs LMG.

Sex Disabil. 2018;36(3):249-264. doi: 10.1007/s11195-018-9519-y. Epub 2018 Feb 1.

11.

Review and gap analysis: molecular pathways leading to fetal alcohol spectrum disorders.

Ehrhart F, Roozen S, Verbeek J, Koek G, Kok G, van Kranen H, Evelo CT, Curfs LMG.

Mol Psychiatry. 2019 Jan;24(1):10-17. doi: 10.1038/s41380-018-0095-4. Epub 2018 Jun 11. Review.

12.

MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.

Townend GS, Ehrhart F, van Kranen HJ, Wilkinson M, Jacobsen A, Roos M, Willighagen EL, van Enckevort D, Evelo CT, Curfs LMG.

Hum Mutat. 2018 Jul;39(7):914-924. doi: 10.1002/humu.23542. Epub 2018 May 21.

13.

Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.

Borst HE, Townend GS, van Eck M, Smeets E, van den Berg M, Laan A, Curfs LMG.

J Dev Phys Disabil. 2018;30(2):281-295. doi: 10.1007/s10882-017-9585-6. Epub 2018 Jan 2.

14.
15.

Low maternal melatonin level increases autism spectrum disorder risk in children.

Braam W, Ehrhart F, Maas APHM, Smits MG, Curfs L.

Res Dev Disabil. 2018 Nov;82:79-89. doi: 10.1016/j.ridd.2018.02.017. Epub 2018 Mar 1.

PMID:
29501372
16.

Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders.

Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG.

World J Biol Psychiatry. 2018 Mar 1:1-13. doi: 10.1080/15622975.2018.1439594. [Epub ahead of print]

PMID:
29425059
17.

Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome.

van Nieuwpoort IC, Twisk JWR, Curfs LMG, Lips P, Drent ML.

Int J Pediatr Endocrinol. 2018;2018:1. doi: 10.1186/s13633-018-0055-4. Epub 2018 Jan 16.

18.

Current developments in the genetics of Rett and Rett-like syndrome.

Ehrhart F, Sangani NB, Curfs LMG.

Curr Opin Psychiatry. 2018 Mar;31(2):103-108. doi: 10.1097/YCO.0000000000000389. Review.

PMID:
29206688
19.

Sexuality and individual support plans for people with intellectual disabilities.

Stoffelen JMT, Herps MA, Buntinx WHE, Schaafsma D, Kok G, Curfs LMG.

J Intellect Disabil Res. 2017 Dec;61(12):1117-1129. doi: 10.1111/jir.12428. Epub 2017 Oct 11.

PMID:
29024162
20.

Sleep in Angelman syndrome: A review of evidence.

Spruyt K, Braam W, Curfs LM.

Sleep Med Rev. 2018 Feb;37:69-84. doi: 10.1016/j.smrv.2017.01.002. Epub 2017 Jan 25. Review.

PMID:
28784434
21.

Nocturnal incontinence in children with fetal alcohol spectrum disorders (FASD) in a South African cohort.

Roozen S, Olivier L, Niemczyk J, von Gontard A, Peters GY, Kok G, Viljoen D, Curfs L.

J Pediatr Urol. 2017 Oct;13(5):496.e1-496.e7. doi: 10.1016/j.jpurol.2017.02.009. Epub 2017 Mar 23.

PMID:
28381366
22.

People with Intellectual Disabilities Talk About Sexuality: Implications for the Development of Sex Education.

Schaafsma D, Kok G, Stoffelen JMT, Curfs LMG.

Sex Disabil. 2017;35(1):21-38. doi: 10.1007/s11195-016-9466-4. Epub 2016 Dec 16.

23.

Precision medicine in circadian rhythm sleep-wake disorders: current state and future perspectives.

Keijzer H, Snitselaar MA, Smits MG, Spruyt K, Zee PC, Ehrhart F, Curfs LM.

Per Med. 2017 Mar;14(2):171-182. doi: 10.2217/pme-2016-0079. Epub 2017 Jan 24. Review.

PMID:
29754559
24.

Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome.

Niemczyk J, Einfeld S, Mowat D, Equit M, Wagner C, Curfs L, von Gontard A.

Res Dev Disabil. 2017 Mar;62:230-237. doi: 10.1016/j.ridd.2017.01.006. Epub 2017 Jan 13.

PMID:
28094084
25.

Incontinence in persons with Angelman syndrome.

Wagner C, Niemczyk J, Equit M, Curfs L, von Gontard A.

Eur J Pediatr. 2017 Feb;176(2):225-232. doi: 10.1007/s00431-016-2828-1. Epub 2016 Dec 20.

PMID:
28000035
26.

Fetal Alcohol Spectrum Disorders (FASD): an Approach to Effective Prevention.

Roozen S, Black D, Peters GY, Kok G, Townend D, Nijhuis JG, Koek GH, Curfs LM.

Curr Dev Disord Rep. 2016;3(4):229-234. Epub 2016 Oct 26. Review.

27.

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.

Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM.

Orphanet J Rare Dis. 2016 Nov 25;11(1):158. Review.

28.

Sleep Complaints and the 24-h Melatonin Level in Individuals with Smith-Magenis Syndrome: Assessment for Effective Intervention.

Spruyt K, Braam W, Smits M, Curfs LM.

CNS Neurosci Ther. 2016 Nov;22(11):928-935. doi: 10.1111/cns.12653. Epub 2016 Oct 14.

29.

Incontinence in persons with Down Syndrome.

Niemczyk J, von Gontard A, Equit M, Medoff D, Wagner C, Curfs L.

Neurourol Urodyn. 2017 Aug;36(6):1550-1556. doi: 10.1002/nau.23146. Epub 2016 Oct 4.

PMID:
27701769
30.

Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting.

Niemczyk J, von Gontard A, Equit M, Bauer K, Naumann T, Wagner C, Curfs L.

Eur J Pediatr. 2016 Oct;175(10):1325-34. doi: 10.1007/s00431-016-2767-x. Epub 2016 Aug 27.

PMID:
27567619
31.

Do-Not-Attempt-Resuscitation orders for people with intellectual disabilities: dilemmas and uncertainties for ID physicians and trainees. The importance of the deliberation process.

Wagemans AM, van Schrojenstein Lantman-de Valk HM, Proot IM, Bressers AM, Metsemakers J, Tuffrey-Wijne I, Groot M, Curfs LM.

J Intellect Disabil Res. 2017 Mar;61(3):245-254. doi: 10.1111/jir.12333. Epub 2016 Aug 26.

PMID:
27561444
32.

New insights in Rett syndrome using pathway analysis for transcriptomics data.

Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs L.

Wien Med Wochenschr. 2016 Sep;166(11-12):346-52. doi: 10.1007/s10354-016-0488-4. Epub 2016 Aug 12.

33.

Developing research, policy and practice in palliative care for people with intellectual disabilities will benefit everyone.

Tuffrey-Wijne I, Curfs L, Deliens L.

Palliat Med. 2016 Jul;30(7):613-5. doi: 10.1177/0269216316648610. No abstract available.

PMID:
27365301
34.

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

Halbach N, Smeets EE, Julu P, Witt-Engerström I, Pini G, Bigoni S, Hansen S, Apartopoulos F, Delamont R, van Roozendaal K, Scusa MF, Borelli P, Candel M, Curfs L.

Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29.

35.

Fetal alcohol spectrum disorders: Prevalence rates in South Africa.

Olivier L, Curfs LM, Viljoen DL.

S Afr Med J. 2016 May 25;106(6 Suppl 1):S103-6. doi: 10.7196/SAMJ.2016.v106i6.11009.

PMID:
27245541
36.

Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands.

Townend GS, Marschik PB, Smeets E, van de Berg R, van den Berg M, Curfs LM.

J Dev Phys Disabil. 2016;28:101-112. Epub 2015 Oct 19.

37.

Developing research priorities for palliative care of people with intellectual disabilities in Europe: a consultation process using nominal group technique.

Tuffrey-Wijne I, Wicki M, Heslop P, McCarron M, Todd S, Oliver D, de Veer A, Ahlström G, Schäper S, Hynes G, O'Farrell J, Adler J, Riese F, Curfs L.

BMC Palliat Care. 2016 Mar 24;15:36. doi: 10.1186/s12904-016-0108-5.

38.

The use of two different MLPA kits in 22q11.2 deletion syndrome.

Evers LJ, Engelen JJ, Houben LM, Curfs LM, van Amelsvoort TA.

Eur J Med Genet. 2016 Apr;59(4):183-8. doi: 10.1016/j.ejmg.2016.02.009. Epub 2016 Feb 24.

39.

Worldwide Prevalence of Fetal Alcohol Spectrum Disorders: A Systematic Literature Review Including Meta-Analysis.

Roozen S, Peters GJ, Kok G, Townend D, Nijhuis J, Curfs L.

Alcohol Clin Exp Res. 2016 Jan;40(1):18-32. doi: 10.1111/acer.12939. Review. Erratum in: Alcohol Clin Exp Res. 2016 Jul;40(7):1587.

PMID:
26727519
40.

Individual support plans of people with intellectual disabilities in residential services: content analysis of goals and resources in relation to client characteristics.

Herps MA, Buntinx WH, Schalock RL, van Breukelen GJ, Curfs LM.

J Intellect Disabil Res. 2016 Mar;60(3):254-62. doi: 10.1111/jir.12245. Epub 2015 Nov 13.

PMID:
26564447
41.

Incontinence in children, adolescents and adults with Williams syndrome.

von Gontard A, Niemczyk J, Borggrefe-Moussavian S, Wagner C, Curfs L, Equit M.

Neurourol Urodyn. 2016 Nov;35(8):1000-1005. doi: 10.1002/nau.22866. Epub 2015 Sep 14.

PMID:
26370069
42.

Defining consensus norms for palliative care of people with intellectual disabilities in Europe, using Delphi methods: A White Paper from the European Association of Palliative Care.

Tuffrey-Wijne I, McLaughlin D, Curfs L, Dusart A, Hoenger C, McEnhill L, Read S, Ryan K, Satgé D, Straßer B, Westergård BE, Oliver D.

Palliat Med. 2016 May;30(5):446-55. doi: 10.1177/0269216315600993. Epub 2015 Sep 7.

43.

Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life.

Townend GS, Bartl-Pokorny KD, Sigafoos J, Curfs LM, Bölte S, Poustka L, Einspieler C, Marschik PB.

Res Dev Disabil. 2015 Aug-Sep;43-44:80-6. doi: 10.1016/j.ridd.2015.06.008. Epub 2015 Jul 7.

44.

Incontinence in persons with Noonan Syndrome.

Niemczyk J, Equit M, Borggrefe-Moussavian S, Curfs L, von Gontard A.

J Pediatr Urol. 2015 Aug;11(4):201.e1-5. doi: 10.1016/j.jpurol.2015.06.002. Epub 2015 Jun 18.

PMID:
26143485
45.

Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome.

Evers LJ, van Amelsvoort TA, Bakker JA, de Koning M, Drukker M, Curfs LM.

Psychopharmacology (Berl). 2015 Sep;232(18):3319-25. doi: 10.1007/s00213-015-3979-x. Epub 2015 Jun 10.

46.

Rett Syndrome as a Rare Disease: A European Perspective.

Townend GS, van Kranen HJ, van der Stel R, van den Berg M, Smeets E, van Waardenburg D, Curfs LM.

Public Health Genomics. 2015;18(4):233-6. doi: 10.1159/000381139. Epub 2015 Apr 14. No abstract available.

PMID:
25895605
47.

Non-pharmacological management of problematic sleeping in children with developmental disabilities.

Spruyt K, Curfs LM.

Dev Med Child Neurol. 2015 Feb;57(2):120-36. doi: 10.1111/dmcn.12623. Epub 2014 Nov 5. Review.

48.

What does the general public in the UK know about the risk to a developing foetus if exposed to alcohol in pregnancy? Findings from a UK mixed methodology study.

Mukherjee R, Wray E, Hollins S, Curfs L.

Child Care Health Dev. 2015 May;41(3):467-74. doi: 10.1111/cch.12187. Epub 2014 Sep 24.

PMID:
25251603
49.

Identifying effective methods for teaching sex education to individuals with intellectual disabilities: a systematic review.

Schaafsma D, Kok G, Stoffelen JM, Curfs LM.

J Sex Res. 2015;52(4):412-32. doi: 10.1080/00224499.2014.919373. Epub 2014 Aug 1. Review.

50.

Serotonergic, noradrenergic and dopaminergic markers are related to cognitive function in adults with 22q11 deletion syndrome.

Evers LJ, Curfs LM, Bakker JA, Boot E, da Silva Alves F, Abeling N, Bierau J, Drukker M, van Amelsvoort TA.

Int J Neuropsychopharmacol. 2014 Aug;17(8):1159-65. doi: 10.1017/S1461145714000376. Epub 2014 Apr 8.

PMID:
24713114

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