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Items: 1 to 50 of 90

1.

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.

Stuurman KE, Joosten M, van der Burgt I, Elting M, Yntema HG, Meijers-Heijboer H, Rinne T.

J Med Genet. 2019 Apr 30. pii: jmedgenet-2018-105746. doi: 10.1136/jmedgenet-2018-105746. [Epub ahead of print]

PMID:
31040167
2.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.

PMID:
30696996
3.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Jan 29;:.

PMID:
30349098
4.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V; DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A.

Nat Genet. 2018 Oct;50(10):1442-1451. doi: 10.1038/s41588-018-0220-y. Epub 2018 Sep 17.

PMID:
30224647
5.

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

van Trier DC, van der Burgt I, Draaijer RW, Cruysberg JRM, Noordam C, Draaisma JM.

Eur J Pediatr. 2018 Aug;177(8):1293-1298. doi: 10.1007/s00431-018-3183-1. Epub 2018 Jun 9.

6.

First-year growth in children with Noonan syndrome: Associated with feeding problems?

Croonen EA, Draaisma JMT, van der Burgt I, Roeleveld N, Noordam C.

Am J Med Genet A. 2018 Apr;176(4):951-958. doi: 10.1002/ajmg.a.38649.

PMID:
29575624
7.

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM, Nambot S, Faivre L, Bruel AL, Rossi M, Isidor B, Küry S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY.

Clin Genet. 2018 Apr;93(4):880-890. doi: 10.1111/cge.13196. Epub 2018 Feb 13.

PMID:
29240241
8.

Genetic analysis of adults heterozygous for ALPL mutations.

Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E.

J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13.

PMID:
29236161
9.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Lamers IJC, Reijnders MRF, Venselaar H, Kraus A; DDD Study, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R.

Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26.

10.

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

van Trier DC, Rinne T, Noordam K, Draaisma JM, van der Burgt I.

Am J Med Genet A. 2017 Nov;173(11):2968-2972. doi: 10.1002/ajmg.a.38466. Epub 2017 Sep 8.

PMID:
28884940
11.

Motor performance in children with Noonan syndrome.

Croonen EA, Essink M, van der Burgt I, Draaisma JM, Noordam C, Nijhuis-van der Sanden MWG.

Am J Med Genet A. 2017 Sep;173(9):2335-2345. doi: 10.1002/ajmg.a.38322. Epub 2017 Jun 19.

PMID:
28627718
12.

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

van Nierop JWI, van Trier DC, van der Burgt I, Draaisma JMT, Mylanus EAM, Snik AF, Admiraal RJC, Kunst HPM.

Int J Pediatr Otorhinolaryngol. 2017 Jun;97:228-234. doi: 10.1016/j.ijporl.2017.04.024. Epub 2017 Apr 17.

PMID:
28483241
13.

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis.

van Engen-van Grunsven AC, Rabold K, Küsters-Vandevelde HV, Rijntjes J, Djafarihamedani M, Hehir-Kwa JY, Küsters B, Willemsen MA, van der Burgt I, Wesseling P, Blokx WA, Groenen PJ.

Acta Neuropathol. 2017 Feb;133(2):333-335. doi: 10.1007/s00401-016-1654-x. Epub 2016 Dec 17. No abstract available.

PMID:
27988846
14.

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.

15.

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

van Trier DC, Vos AM, Draaijer RW, van der Burgt I, Draaisma JM, Cruysberg JR.

Ophthalmology. 2016 Oct;123(10):2137-46. doi: 10.1016/j.ophtha.2016.06.061. Epub 2016 Aug 9.

PMID:
27521173
16.

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C.

Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1. Review.

PMID:
27479843
17.

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

Croonen EA, Harmsen M, Van der Burgt I, Draaisma JM, Noordam K, Essink M, Nijhuis-van der Sanden MW.

Am J Med Genet A. 2016 Sep;170(9):2349-56. doi: 10.1002/ajmg.a.37814. Epub 2016 Jun 24.

PMID:
27338165
18.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T.

Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004.

19.

External ear anomalies and hearing impairment in Noonan Syndrome.

van Trier DC, van Nierop J, Draaisma JM, van der Burgt I, Kunst H, Croonen EA, Admiraal RJ.

Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-8. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1.

PMID:
25862627
20.

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J.

Eur J Hum Genet. 2015 Mar;23(3):317-24. doi: 10.1038/ejhg.2014.115. Epub 2014 Jun 18.

21.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M.

Hum Mol Genet. 2014 Aug 15;23(16):4315-27. doi: 10.1093/hmg/ddu148. Epub 2014 Apr 4.

22.

Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

Croonen EA, Nillesen W, Schrander C, Jongmans M, Scheffer H, Noordam C, Draaisma JM, van der Burgt I, Yntema HG.

Mol Syndromol. 2013 Jun;4(5):227-34. doi: 10.1159/000350686. Epub 2013 May 8.

23.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63.

24.

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG.

Eur J Hum Genet. 2013 Sep;21(9):936-42. doi: 10.1038/ejhg.2012.285. Epub 2013 Jan 16.

25.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.

Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

PMID:
23320472
26.

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.

Mundhofir FE, Yntema HG, van der Burgt I, Hamel BC, Faradz SM, van Bon BW.

Case Rep Genet. 2012;2012:949507. doi: 10.1155/2012/949507. Epub 2012 Dec 1.

27.

Cognitive functioning of adults with Noonan syndrome: a case-control study.

Wingbermühle E, Roelofs RL, van der Burgt I, Souren PM, Verhoeven WM, Kessels RP, Egger JI.

Genes Brain Behav. 2012 Oct;11(7):785-93. doi: 10.1111/j.1601-183X.2012.00821.x. Epub 2012 Aug 10.

28.

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

Croonen EA, Yntema HG, van Minkelen R, van den Ouweland AM, van der Burgt I.

Clin Dysmorphol. 2012 Oct;21(4):212-4. doi: 10.1097/MCD.0b013e3283557231. No abstract available.

PMID:
22664660
29.

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Kooper AJ, Pieters JJ, Faas BH, Hoefsloot LH, van der Burgt I, Zondervan HA, Smits AP.

Mol Cytogenet. 2012 Jan 27;5(1):7. doi: 10.1186/1755-8166-5-7.

30.

Affective functioning and social cognition in Noonan syndrome.

Wingbermühle E, Egger JI, Verhoeven WM, van der Burgt I, Kessels RP.

Psychol Med. 2012 Feb;42(2):419-26. doi: 10.1017/S0033291711001115. Epub 2011 Jul 11.

PMID:
21740625
31.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N.

Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16.

32.

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Runtuwene V, van Eekelen M, Overvoorde J, Rehmann H, Yntema HG, Nillesen WM, van Haeringen A, van der Burgt I, Burgering B, den Hertog J.

Dis Model Mech. 2011 May;4(3):393-9. doi: 10.1242/dmm.007112. Epub 2011 Jan 24.

33.

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E.

Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10.

34.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M.

Am J Hum Genet. 2010 Aug 13;87(2):250-7. doi: 10.1016/j.ajhg.2010.06.015. Epub 2010 Jul 8.

35.

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.

Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N.

J Med Genet. 2010 Sep;47(9):586-94. doi: 10.1136/jmg.2009.075853. Epub 2010 Jun 24.

PMID:
20577003
36.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N.

Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773.

PMID:
20461756
37.

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

Houweling AC, de Mooij YM, van der Burgt I, Yntema HG, Lachmeijer AM, Go AT.

Prenat Diagn. 2010 Mar;30(3):284-6. doi: 10.1002/pd.2458. No abstract available.

PMID:
20112233
38.

Neuropsychological and behavioral aspects of Noonan syndrome.

Wingbermuehle E, Egger J, van der Burgt I, Verhoeven W.

Horm Res. 2009 Dec;72 Suppl 2:15-23. doi: 10.1159/000243774. Epub 2009 Dec 22.

PMID:
20029232
39.

Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses.

Verhoeven WM, Tuinier S, van der Burgt I.

Biologics. 2008 Sep;2(3):409-17.

40.

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH.

Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Erratum in: Hum Mutat. 2009 Oct;30(10):1472-3.

PMID:
19309688
41.

Impaired Sertoli cell function in males diagnosed with Noonan syndrome.

Marcus KA, Sweep CG, van der Burgt I, Noordam C.

J Pediatr Endocrinol Metab. 2008 Nov;21(11):1079-84.

PMID:
19189703
42.

Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.

Kooper AJA, Faas BHW, Feuth T, Creemers JWT, Zondervan HH, Boekkooi PF, Quartero RWP, Rijnders RJP, van der Burgt I, van Kessel AG, Smits APT.

J Mol Diagn. 2009 Jan;11(1):17-24. doi: 10.2353/jmoldx.2009.070140. Epub 2008 Dec 12.

43.

Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.

Kooper AJ, Faas BH, Kater-Baats E, Feuth T, Janssen JC, van der Burgt I, Lotgering FK, van Kessel AG, Smits AP.

Prenat Diagn. 2008 Nov;28(11):1004-10. doi: 10.1002/pd.2111.

PMID:
18925610
44.

[Alpha-foetoprotein assessment in amniotic fluid for the detection of neural tube defects: limited added value beyond week 20 ultrasound; retrospective study].

Kooper AJ, Smits AP, Feuth AB, van der Burgt I, Zondervan HA, Quartero RW, Boekkooi PF, Rijnders RJ, Creemers JW, Thomas CM.

Ned Tijdschr Geneeskd. 2008 Aug 23;152(34):1876-81. Dutch.

PMID:
18788679
45.

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.

van Bon BW, Koolen DA, Pfundt R, van der Burgt I, de Leeuw N, de Vries BB.

Am J Med Genet A. 2008 May 1;146A(9):1225-9. doi: 10.1002/ajmg.a.32289. Review. No abstract available.

PMID:
18386802
46.

Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

Croonen EA, van der Burgt I, Kapusta L, Draaisma JM.

Am J Med Genet A. 2008 Feb 1;146A(3):350-3. doi: 10.1002/ajmg.a.32140.

PMID:
18203203
47.

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.

Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A.

Am J Med Genet A. 2008 Feb 15;146A(4):496-9. doi: 10.1002/ajmg.a.32168.

PMID:
18203154
48.

Noonan syndrome: psychological and psychiatric aspects.

Verhoeven W, Wingbermühle E, Egger J, Van der Burgt I, Tuinier S.

Am J Med Genet A. 2008 Jan 15;146A(2):191-6.

PMID:
18080322
49.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.

Clin Genet. 2008 Jan;73(1):62-70. Epub 2007 Nov 27.

PMID:
18042262
50.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K.

J Med Genet. 2007 Oct;44(10):651-6. Epub 2007 Jun 23.

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