Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 272

1.

Patients with High-Grade Gliomas and Café-au-Lait Macules: Is Neurofibromatosis Type 1 the Only Diagnosis?

Guerrini-Rousseau L, Suerink M, Grill J, Legius E, Wimmer K, Brugières L.

AJNR Am J Neuroradiol. 2019 May 9. doi: 10.3174/ajnr.A6058. [Epub ahead of print] No abstract available.

PMID:
31072978
2.

Neurofibromatosis type 1-related pseudarthrosis: beyond the pseudarthrosis site.

Brekelmans C, Hollants S, De Groote C, Sohier N, Maréchal M, Geris L, Luyten FP, Ginckels L, Sciot R, de Ravel T, De Smet L, Lammens J, Legius E, Brems H.

Hum Mutat. 2019 May 8. doi: 10.1002/humu.23783. [Epub ahead of print]

PMID:
31066482
3.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M.

Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25.

PMID:
30908877
4.

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Ferner RE, Bakker A, Elgersma Y, Evans DGR, Giovannini M, Legius E, Lloyd A, Messiaen LM, Plotkin S, Reilly KM, Schindeler A, Smith MJ, Ullrich NJ, Widemann B, Sherman LS.

Am J Med Genet A. 2019 Jun;179(6):1098-1106. doi: 10.1002/ajmg.a.61112. Epub 2019 Mar 25.

PMID:
30908866
5.

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas.

Pemov A, Hansen NF, Sindiri S, Patidar R, Higham CS, Dombi E, Miettinen MM, Fetsch P, Brems H, Chandrasekharappa S, Jones K, Zhu B, Wei JS; NISC Comparative Sequencing Program; NCI DCEG Cancer Genomics Research Laboratory, Mullikin JC, Wallace MR, Khan J, Legius E, Widemann BC, Stewart DR.

Neuro Oncol. 2019 Feb 5. doi: 10.1093/neuonc/noz028. [Epub ahead of print]

PMID:
30722027
6.

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

Steklov M, Pandolfi S, Baietti MF, Batiuk A, Carai P, Najm P, Zhang M, Jang H, Renzi F, Cai Y, Abbasi Asbagh L, Pastor T, De Troyer M, Simicek M, Radaelli E, Brems H, Legius E, Tavernier J, Gevaert K, Impens F, Messiaen L, Nussinov R, Heymans S, Eyckerman S, Sablina AA.

Science. 2018 Dec 7;362(6419):1177-1182. doi: 10.1126/science.aap7607. Epub 2018 Nov 15.

PMID:
30442762
7.

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.

Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K.

J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10.

PMID:
30415209
8.

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.

Destouni A, Dimitriadou E, Masset H, Debrock S, Melotte C, Van Den Bogaert K, Zamani Esteki M, Ding J, Voet T, Denayer E, de Ravel T, Legius E, Meuleman C, Peeraer K, Vermeesch JR.

Hum Reprod. 2018 Dec 1;33(12):2302-2311. doi: 10.1093/humrep/dey325.

9.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8.

PMID:
30275510
10.

Ophthalmological examination in neurofibromatosis type 1: a long-term retrospective analysis.

Cassiman C, Laenen A, Jacobs S, Demaerel P, Legius E, Casteels I.

Acta Ophthalmol. 2018 Dec;96(8):e1044-e1046. doi: 10.1111/aos.13831. Epub 2018 Sep 26. No abstract available.

PMID:
30259655
11.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Erratum in: Genet Med. 2019 Mar;21(3):764-765.

PMID:
30190611
12.

The biology of cutaneous neurofibromas: Consensus recommendations for setting research priorities.

Brosseau JP, Pichard DC, Legius EH, Wolkenstein P, Lavker RM, Blakeley JO, Riccardi VM, Verma SK, Brownell I, Le LQ.

Neurology. 2018 Jul 10;91(2 Supplement 1):S14-S20. doi: 10.1212/WNL.0000000000005788.

PMID:
29987131
13.

Nevus anemicus and RASopathies.

Bulteel C, Morren MA, De Haes P, Denayer E, Legius E, Brems H.

JAAD Case Rep. 2018 Apr 6;4(4):390-391. doi: 10.1016/j.jdcr.2017.09.037. eCollection 2018 May. No abstract available.

14.

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Denorme P, Morren MA, Hollants S, Spaepen M, Suaer K, Zutterman N, Labarque V, Legius E, Brems H.

Pediatr Dermatol. 2018 May;35(3):e186-e188. doi: 10.1111/pde.13441. Epub 2018 Mar 1.

PMID:
29493003
15.

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors.

Higham CS, Dombi E, Rogiers A, Bhaumik S, Pans S, Connor SEJ, Miettinen M, Sciot R, Tirabosco R, Brems H, Baldwin A, Legius E, Widemann BC, Ferner RE.

Neuro Oncol. 2018 May 18;20(6):818-825. doi: 10.1093/neuonc/noy013.

PMID:
29409029
16.

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

Brison N, Neofytou M, Dehaspe L, Bayindir B, Van Den Bogaert K, Dardour L, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Prenat Diagn. 2018 Mar;38(4):258-266. doi: 10.1002/pd.5223. Epub 2018 Feb 19.

PMID:
29388226
17.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

18.

Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1.

Rietman AB, van der Vaart T, Plasschaert E, Nicholson BA, Oostenbrink R, Krab LC, Descheemaeker MJ, Wit MY, Moll HA, Legius E, Nijs PFA.

Am J Med Genet B Neuropsychiatr Genet. 2018 Apr;177(3):319-328. doi: 10.1002/ajmg.b.32612. Epub 2017 Dec 15.

PMID:
29243874
19.

Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.

Peene G, Smets E, Legius E, Cassiman C.

Ophthalmic Genet. 2018 Apr;39(2):247-250. doi: 10.1080/13816810.2017.1401086. Epub 2017 Nov 21.

PMID:
29161159
20.

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.

Reilly KM, Kim A, Blakely J, Ferner RE, Gutmann DH, Legius E, Miettinen MM, Randall RL, Ratner N, Jumbé NL, Bakker A, Viskochil D, Widemann BC, Stewart DR.

J Natl Cancer Inst. 2017 Aug 1;109(8). doi: 10.1093/jnci/djx124. Review.

21.

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

Imbert-Bouteille M, Chiesa J, Gaillard JB, Dorvaux V, Altounian L, Gatinois V, Mousty E, Finge S, Bourquard P, Vermeesch JR, Legius E, Vandenberghe P.

Prenat Diagn. 2017 Dec;37(12):1257-1260. doi: 10.1002/pd.5168. Epub 2017 Nov 28. No abstract available.

22.

Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.

Borrie SC, Brems H, Legius E, Bagni C.

Annu Rev Genomics Hum Genet. 2017 Aug 31;18:115-142. doi: 10.1146/annurev-genom-091416-035332. Review.

PMID:
28859574
23.

Erratum: Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study.

Carlier A, Brems H, Ashbourn JMA, Nica I, Legius E, Geris L.

Sci Rep. 2017 Jun 30;7:46384. doi: 10.1038/srep46384.

24.

Visuoperceptual processing in children with neurofibromatosis type 1: True deficit or artefact?

Van Eylen L, Plasschaert E, Wagemans J, Boets B, Legius E, Steyaert J, Noens I.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):342-358. doi: 10.1002/ajmg.b.32522.

PMID:
28512747
25.

Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1.

Cassiman C, Casteels I, Stalmans P, Legius E, Jacob J.

Case Rep Ophthalmol. 2017 Apr 10;8(1):214-220. doi: 10.1159/000469702. eCollection 2017 Jan-Apr.

26.

Erratum to: Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Van Royen K, Brems H, Legius E, Lammens J, Laumen A.

Eur J Pediatr. 2017 Jul;176(7):993. doi: 10.1007/s00431-017-2921-0. No abstract available.

PMID:
28478524
27.

The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.

Blakeley JO, Bakker A, Barker A, Clapp W, Ferner R, Fisher MJ, Giovannini M, Gutmann DH, Karajannis MA, Kissil JL, Legius E, Lloyd AC, Packer RJ, Ramesh V, Riccardi VM, Stevenson DA, Ullrich NJ, Upadhyaya M, Stemmer-Rachamimov A.

Am J Med Genet A. 2017 Jun;173(6):1714-1721. doi: 10.1002/ajmg.a.38239. Epub 2017 Apr 24.

28.

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos.

Dimitriadou E, Melotte C, Debrock S, Esteki MZ, Dierickx K, Voet T, Devriendt K, de Ravel T, Legius E, Peeraer K, Meuleman C, Vermeesch JR.

Hum Reprod. 2017 Mar 1;32(3):687-697. doi: 10.1093/humrep/dex011.

PMID:
28158716
29.

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond ML, Kitabayashi N, Rice GI, Jenkinson EM, Boulai A, Jeremiah N, Gattorno M, Volpi S, Sacco O, Terheggen-Lagro SWJ, Tiddens HAWM, Meyts I, Morren MA, De Haes P, Wouters C, Legius E, Corveleyn A, Rieux-Laucat F, Bodemer C, Callebaut I, Rodero MP, Crow YJ.

J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10. Erratum in: J Allergy Clin Immunol. 2017 Dec;140(6):1757.

PMID:
28087229
30.

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

Morris SM, Acosta MT, Garg S, Green J, Huson S, Legius E, North KN, Payne JM, Plasschaert E, Frazier TW, Weiss LA, Zhang Y, Gutmann DH, Constantino JN.

JAMA Psychiatry. 2016 Dec 1;73(12):1276-1284. doi: 10.1001/jamapsychiatry.2016.2600.

31.

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

Cassiman C, Casteels I, Jacob J, Plasschaert E, Brems H, Dubron K, Keer KV, Legius E.

Clin Genet. 2017 Apr;91(4):529-535. doi: 10.1111/cge.12873. Epub 2016 Nov 24.

PMID:
27716896
32.

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.

Brison N, Van Den Bogaert K, Dehaspe L, van den Oever JM, Janssens K, Blaumeiser B, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Genet Med. 2017 Mar;19(3):306-313. doi: 10.1038/gim.2016.113. Epub 2016 Sep 1.

PMID:
27584908
33.

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Van Royen K, Brems H, Legius E, Lammens J, Laumen A.

Eur J Pediatr. 2016 Sep;175(9):1193-1198. doi: 10.1007/s00431-016-2757-z. Epub 2016 Aug 12. Review. Erratum in: Eur J Pediatr. 2017 Jul;176(7):993.

PMID:
27519821
34.

Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials.

Friedrich RE, Grob TJ, Hollants S, Zustin J, Spaepen M, Mautner VF, Luebke AM, Hagel C, Legius E, Brems H.

J Craniomaxillofac Surg. 2016 Aug;44(8):1054-60. doi: 10.1016/j.jcms.2016.05.010. Epub 2016 May 15.

PMID:
27316856
35.

Cotargeting MNK and MEK kinases induces the regression of NF1-mutant cancers.

Lock R, Ingraham R, Maertens O, Miller AL, Weledji N, Legius E, Konicek BM, Yan SC, Graff JR, Cichowski K.

J Clin Invest. 2016 Jun 1;126(6):2181-90. doi: 10.1172/JCI85183. Epub 2016 May 9.

36.

Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study.

Carlier A, Brems H, Ashbourn JM, Nica I, Legius E, Geris L.

Sci Rep. 2016 Jan 29;7:20010. doi: 10.1038/srep20010. Erratum in: Sci Rep. 2017 Jun 30;7:46384.

37.

Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning.

Plasschaert E, Van Eylen L, Descheemaeker MJ, Noens I, Legius E, Steyaert J.

Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):348-62. doi: 10.1002/ajmg.b.32414. Epub 2016 Jan 15.

PMID:
26773288
38.

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study.

Vandenberghe P, Wlodarska I, Tousseyn T, Dehaspe L, Dierickx D, Verheecke M, Uyttebroeck A, Bechter O, Delforge M, Vandecaveye V, Brison N, Verhoef GE, Legius E, Amant F, Vermeesch JR.

Lancet Haematol. 2015 Feb;2(2):e55-65. doi: 10.1016/S2352-3026(14)00039-8. Epub 2015 Jan 20.

PMID:
26687610
39.

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, Llano-Rivas I, Ose T, Messiaen L, Legius E, Yoshimura A.

J Biol Chem. 2016 Feb 12;291(7):3124-34. doi: 10.1074/jbc.M115.703710. Epub 2015 Dec 3.

40.

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1.

van der Vaart T, Rietman AB, Plasschaert E, Legius E, Elgersma Y, Moll HA; NF1-SIMCODA Study Group.

Neurology. 2016 Jan 12;86(2):154-60. doi: 10.1212/WNL.0000000000002118. Epub 2015 Oct 30.

41.

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML.

BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. Review.

42.

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.

Amant F, Verheecke M, Wlodarska I, Dehaspe L, Brady P, Brison N, Van Den Bogaert K, Dierickx D, Vandecaveye V, Tousseyn T, Moerman P, Vanderstichele A, Vergote I, Neven P, Berteloot P, Putseys K, Danneels L, Vandenberghe P, Legius E, Vermeesch JR.

JAMA Oncol. 2015 Sep;1(6):814-9. doi: 10.1001/jamaoncol.2015.1883.

PMID:
26355862
43.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.

44.

Concurrent whole-genome haplotyping and copy-number profiling of single cells.

Zamani Esteki M, Dimitriadou E, Mateiu L, Melotte C, Van der Aa N, Kumar P, Das R, Theunis K, Cheng J, Legius E, Moreau Y, Debrock S, D'Hooghe T, Verdyck P, De Rycke M, Sermon K, Vermeesch JR, Voet T.

Am J Hum Genet. 2015 Jun 4;96(6):894-912. doi: 10.1016/j.ajhg.2015.04.011. Epub 2015 May 14.

45.

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

Breckpot J, Anderlid BM, Alanay Y, Blyth M, Brahimi A, Duban-Bedu B, Gozé O, Firth H, Yakicier MC, Hens G, Rayyan M, Legius E, Vermeesch JR, Devriendt K.

Eur J Hum Genet. 2016 Jan;24(1):51-8. doi: 10.1038/ejhg.2015.65. Epub 2015 May 6.

46.

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.

Farschtschi S, Mautner VF, Hollants S, Hagel C, Spaepen M, Schulte C, Legius E, Brems H.

BMC Med Genet. 2015 Feb 10;16:6. doi: 10.1186/s12881-015-0146-5.

47.

Clinical implementation of NIPT - technical and biological challenges.

Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR.

Clin Genet. 2016 May;89(5):523-30. doi: 10.1111/cge.12598. Epub 2015 May 4. Review.

PMID:
25867715
48.

Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

Garavelli L, Cordeddu V, Errico S, Bertolini P, Street ME, Rosato S, Pollazzon M, Wischmeijer A, Ivanovski I, Daniele P, Bacchini E, Lombardi AA, Izzi G, Biasucci G, Del Rossi C, Corradi D, Cazzaniga G, Dominici C, Rossi C, De Luca A, Bernasconi S, Riccardi R, Legius E, Tartaglia M.

Am J Med Genet A. 2015 Aug;167A(8):1902-7. doi: 10.1002/ajmg.a.37082. Epub 2015 Apr 5.

PMID:
25846317
49.

Comparative study of the ophthalmological examinations in neurofibromatosis type 1. Proposal for a new screening algorithm.

Caen S, Cassiman C, Legius E, Casteels I.

Eur J Paediatr Neurol. 2015 Jul;19(4):415-22. doi: 10.1016/j.ejpn.2015.03.002. Epub 2015 Mar 10.

PMID:
25797697
50.

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.

Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, Van der Veken L, Lichtenbelt K, Van den Bogaert K, Van Houdt J, Peeters H, Van Esch H, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/ejhg.2014.282. Epub 2015 Jan 14.

Supplemental Content

Loading ...
Support Center