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Items: 1 to 50 of 110

1.

Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach.

Dijk DR, Bocca G, van Ravenswaaij-Arts CM.

J Multidiscip Healthc. 2019 Aug 1;12:607-620. doi: 10.2147/JMDH.S175713. eCollection 2019.

2.

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.

Deelen P, van Dam S, Herkert JC, Karjalainen JM, Brugge H, Abbott KM, van Diemen CC, van der Zwaag PA, Gerkes EH, Zonneveld-Huijssoon E, Boer-Bergsma JJ, Folkertsma P, Gillett T, van der Velde KJ, Kanninga R, van den Akker PC, Jan SZ, Hoorntje ET, Te Rijdt WP, Vos YJ, Jongbloed JDH, van Ravenswaaij-Arts CMA, Sinke R, Sikkema-Raddatz B, Kerstjens-Frederikse WS, Swertz MA, Franke L.

Nat Commun. 2019 Jun 28;10(1):2837. doi: 10.1038/s41467-019-10649-4.

3.

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

Penders B, Dijk DR, Bocca G, Zimmermann LJI, van Ravenswaaij-Arts CMA, Gerver WM.

Am J Med Genet A. 2019 Aug;179(8):1459-1465. doi: 10.1002/ajmg.a.61215. Epub 2019 May 27.

4.

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group.

Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304.

5.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE.

Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12.

6.

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.

de Geus CM, Bergman JEH, van Ravenswaaij-Arts CMA, Meiners LC.

AJNR Am J Neuroradiol. 2018 Oct;39(10):1938-1942. doi: 10.3174/ajnr.A5810. Epub 2018 Sep 20.

7.

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Brilstra EH, Dijkhuizen T, Vos YJ, van der Kevie-Kersemaekers AF, Knijnenburg J, de Leeuw N, van Minkelen R, Ruivenkamp CAL, Stegmann APA, Brouwer OF, van Ravenswaaij-Arts CMA.

Eur J Med Genet. 2019 Apr;62(4):265-269. doi: 10.1016/j.ejmg.2018.08.002. Epub 2018 Aug 17.

8.

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.

Engwerda A, Frentz B, den Ouden AL, Flapper BCT, Swertz MA, Gerkes EH, Plantinga M, Dijkhuizen T, van Ravenswaaij-Arts CMA.

Eur J Hum Genet. 2018 Oct;26(10):1478-1489. doi: 10.1038/s41431-018-0172-9. Epub 2018 Jun 8.

9.

Copy number variation in a hospital-based cohort of children with epilepsy.

Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Dijkhuizen T, Brouwer OF, van Ravenswaaij-Arts CMA.

Epilepsia Open. 2017 May 8;2(2):244-254. doi: 10.1002/epi4.12057. eCollection 2017 Jun.

10.

Molecular and clinical studies in 8 patients with Temple syndrome.

Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J.

Clin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244. Epub 2018 Mar 25.

PMID:
29468661
11.

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S.

Hum Mol Genet. 2018 Apr 15;27(8):1343-1352. doi: 10.1093/hmg/ddy045.

PMID:
29432577
12.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN.

Clin Genet. 2018 May;93(5):1030-1038. doi: 10.1111/cge.13198. Epub 2018 Jan 25.

PMID:
29251763
13.

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij-Arts CMA.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):450-464. doi: 10.1002/ajmg.c.31593. Epub 2017 Nov 23. Review.

14.

Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences.

Donker RB, Vloeberghs V, Groen H, Tournaye H, van Ravenswaaij-Arts CMA, Land JA.

Hum Reprod. 2017 Dec 1;32(12):2574-2580. doi: 10.1093/humrep/dex307.

PMID:
29040537
15.

Rapid Targeted Genomics in Critically Ill Newborns.

van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C.

Pediatrics. 2017 Oct;140(4). pii: e20162854. doi: 10.1542/peds.2016-2854.

16.

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

Sinnige PF, van Ravenswaaij-Arts CMA, Caruso P, Lin AE, Boon M, Rahikkala E, Callewaert B, Meiners LC.

Eur J Paediatr Neurol. 2017 Nov;21(6):912-920. doi: 10.1016/j.ejpn.2017.07.003. Epub 2017 Jul 18.

PMID:
28757335
17.

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity.

Corsten-Janssen N, van Ravenswaaij-Arts CMA, Kapusta L.

Int J Cardiol Heart Vasc. 2016 May 25;12:21-25. doi: 10.1016/j.ijcha.2016.05.015. eCollection 2016 Sep.

18.

Support for the Diagnosis of CHARGE Syndrome.

van Ravenswaaij-Arts CMA, Blake K, Martin DM.

JAMA Otolaryngol Head Neck Surg. 2017 Jun 1;143(6):634-635. doi: 10.1001/jamaoto.2016.4762. No abstract available.

PMID:
28241200
19.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH.

Genome Biol. 2016 Nov 29;17(1):243.

20.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

21.

Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial.

Zwanenburg RJ, Bocca G, Ruiter SA, Dillingh JH, Flapper BC, van den Heuvel ER, van Ravenswaaij-Arts CM.

Eur J Hum Genet. 2016 Dec;24(12):1696-1701. doi: 10.1038/ejhg.2016.109. Epub 2016 Aug 31.

22.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, Gilissen C, Foulds N, Rump P, Strom T, Cremer K, Zink AM, Engels H, de Munnik SA, Visser JE, Brunner HG, Martens GJ, Pfundt R, Kleefstra T, Kolk SM.

Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.

PMID:
27399968
23.

CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery.

Vesseur AC, Verbist BM, Westerlaan HE, Kloostra FJJ, Admiraal RJC, van Ravenswaaij-Arts CMA, Free RH, Mylanus EAM.

Eur Arch Otorhinolaryngol. 2016 Dec;273(12):4225-4240. doi: 10.1007/s00405-016-4141-z. Epub 2016 Jun 20.

24.

Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts.

Wong MT, van Ravenswaaij-Arts CM, Munns CF, Hsu P, Mehr S, Bocca G.

J Pediatr. 2016 Sep;176:150-5. doi: 10.1016/j.jpeds.2016.05.065. Epub 2016 Jun 16.

PMID:
27321065
25.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC.

Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17.

PMID:
27311832
26.

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP.

Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Erratum in: Genet Med. 2016 Oct;18(10):1066.

27.

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

Zwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM.

J Neurodev Disord. 2016 Apr 26;8:16. doi: 10.1186/s11689-016-9150-0. eCollection 2016.

28.

Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Sperry ED, Schuette JL, van Ravenswaaij-Arts CM, Green GE, Martin DM.

Am J Med Genet A. 2016 May;170A(5):1148-54. doi: 10.1002/ajmg.a.37592. Epub 2016 Feb 6.

29.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B.

BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8.

30.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.

Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.

31.

Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy.

Egger JI, Zwanenburg RJ, van Ravenswaaij-Arts CM, Kleefstra T, Verhoeven WM.

Genes Brain Behav. 2016 Apr;15(4):395-404. doi: 10.1111/gbb.12285. Epub 2016 Feb 17.

32.

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Vlaskamp DR, Rump P, Callenbach PM, Vos YJ, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Brouwer OF.

Eur J Paediatr Neurol. 2016 May;20(3):489-92. doi: 10.1016/j.ejpn.2015.12.014. Epub 2016 Jan 8.

PMID:
26818399
33.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.

Eur J Hum Genet. 2016 Aug;24(8):1216-9. doi: 10.1038/ejhg.2015.276. Epub 2016 Jan 27.

34.

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2015 Dec;58(12):642-9. doi: 10.1016/j.ejmg.2015.11.001. Epub 2015 Nov 6. Review.

PMID:
26548497
35.

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

Wong MT, Lambeck AJ, van der Burg M, la Bastide-van Gemert S, Hogendorf LA, van Ravenswaaij-Arts CM, Schölvinck EH.

PLoS One. 2015 Nov 6;10(11):e0142350. doi: 10.1371/journal.pone.0142350. eCollection 2015.

36.

3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients.

Dimitrov BI, Ogilvie C, Wieczorek D, Wakeling E, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Josifova D.

Am J Med Genet A. 2015 Jun;167(6):1223-30. doi: 10.1002/ajmg.a.36556. Epub 2015 Apr 22. Review.

PMID:
25908055
37.

Clinical utility gene card for: CHARGE syndrome - update 2015.

van Ravenswaaij-Arts CM, Blake K, Hoefsloot L, Verloes A.

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.15. Epub 2015 Feb 18. No abstract available.

38.

CHARGE syndrome: a review of the immunological aspects.

Wong MT, Schölvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM.

Eur J Hum Genet. 2015 Nov;23(11):1451-9. doi: 10.1038/ejhg.2015.7. Epub 2015 Feb 18. Review.

39.

Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.

De Krom G, Arens YH, Coonen E, Van Ravenswaaij-Arts CM, Meijer-Hoogeveen M, Evers JL, Van Golde RJ, De Die-Smulders CE.

Hum Reprod. 2015 Feb;30(2):484-9. doi: 10.1093/humrep/deu314. Epub 2014 Nov 28.

PMID:
25432924
40.

A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs.

Van den Heuvel ER, Zwanenburg RJ, Van Ravenswaaij-Arts CM.

Stat Methods Med Res. 2017 Apr;26(2):766-775. doi: 10.1177/0962280214558864. Epub 2014 Nov 19. Review.

PMID:
25411323
41.

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

Corsten-Janssen N, du Marchie Sarvaas GJ, Kerstjens-Frederikse WS, Hoefsloot LH, van Beynum IM, Kapusta L, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2014 Dec;164A(12):3003-9. doi: 10.1002/ajmg.a.36747. Epub 2014 Sep 24.

PMID:
25257999
42.

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.

Snijders Blok C, Corsten-Janssen N, FitzPatrick DR, Romano C, Fichera M, Vitello GA, Willemsen MH, Schoots J, Pfundt R, van Ravenswaaij-Arts CM, Hoefsloot L, Kleefstra T.

Am J Med Genet A. 2014 Nov;164A(11):2843-8. doi: 10.1002/ajmg.a.36680. Epub 2014 Sep 22.

PMID:
25251717
43.

Central 22q11.2 deletions.

Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14.

PMID:
25123976
44.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.

Hum Genet. 2014 Aug;133(8):997-1009. doi: 10.1007/s00439-014-1444-2. Epub 2014 Apr 13.

PMID:
24728844
45.

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.

Yu T, Meiners LC, Danielsen K, Wong MT, Bowler T, Reinberg D, Scambler PJ, van Ravenswaaij-Arts CM, Basson MA.

Elife. 2013 Dec 24;2:e01305. doi: 10.7554/eLife.01305.

46.

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

Patat O, van Ravenswaaij-Arts CM, Tantau J, Corsten-Janssen N, van Tintelen JP, Dijkhuizen T, Kaplan J, Chassaing N.

Mol Syndromol. 2013 Sep;4(6):302-5. doi: 10.1159/000353727. Epub 2013 Jul 9.

47.

Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis.

Van Echten-Arends J, Coonen E, Reuters B, Suijkerbuijk RF, Dul EC, Land JA, van Ravenswaaij-Arts CM.

Hum Reprod. 2013 Nov;28(11):3141-5. doi: 10.1093/humrep/det362. Epub 2013 Sep 18.

PMID:
24048012
48.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM.

Mol Syndromol. 2013 Jun;4(5):235-45. doi: 10.1159/000351127. Epub 2013 May 28.

49.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP.

Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5.

PMID:
23747338
50.

The cardiac phenotype in patients with a CHD7 mutation.

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.

Circ Cardiovasc Genet. 2013 Jun;6(3):248-54.

PMID:
23677905

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