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Items: 33

1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26.

2.

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
3.

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
4.

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.

5.

Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.

Wang X, Kallionpää RA, Gonzales PR, Chitale DA, Tousignant RN, Crowley JP, Chen Z, Yoder SJ, Blakeley JO, Acosta MT, Korf BR, Messiaen LM, Tainsky MA.

Cancer Prev Res (Phila). 2018 Oct;11(10):655-664. doi: 10.1158/1940-6207.CAPR-18-0072. Epub 2018 Aug 13.

6.

High-Throughput Tabular Data Processor - Platform independent graphical tool for processing large data sets.

Madanecki P, Bałut M, Buckley PG, Ochocka JR, Bartoszewski R, Crossman DK, Messiaen LM, Piotrowski A.

PLoS One. 2018 Feb 12;13(2):e0192858. doi: 10.1371/journal.pone.0192858. eCollection 2018.

7.

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.

8.

Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.

Wang X, Teer JK, Tousignant RN, Levin AM, Boulware D, Chitale DA, Shaw BM, Chen Z, Zhang Y, Blakeley JO, Acosta MT, Messiaen LM, Korf BR, Tainsky MA.

Genes Chromosomes Cancer. 2018 Jan;57(1):19-27. doi: 10.1002/gcc.22503. Epub 2017 Sep 30.

PMID:
28891274
9.

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

Mills JR, Moyer AM, Kipp BR, Poplawski AB, Messiaen LM, Babovic-Vuksanovic D.

Clin Genet. 2018 Jan;93(1):187-190. doi: 10.1111/cge.13099. Epub 2017 Nov 29.

PMID:
28737257
10.

Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.

Ben-Shachar S, Dubov T, Toledano-Alhadef H, Mashiah J, Sprecher E, Constantini S, Leshno M, Messiaen LM.

J Am Acad Dermatol. 2017 Jun;76(6):1077-1083.e3. doi: 10.1016/j.jaad.2017.02.027. Epub 2017 Mar 18.

PMID:
28318682
11.

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

Sites ER, Smolarek TA, Martin LJ, Viskochil DH, Stevenson DA, Ullrich NJ, Messiaen LM, Schorry EK.

Am J Med Genet A. 2017 Mar;173(3):647-653. doi: 10.1002/ajmg.a.38058. Epub 2016 Nov 14.

PMID:
27862945
12.

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

Li K, Turner AN, Chen M, Brosius SN, Schoeb TR, Messiaen LM, Bedwell DM, Zinn KR, Anastasaki C, Gutmann DH, Korf BR, Kesterson RA.

Dis Model Mech. 2016 Jul 1;9(7):759-67. doi: 10.1242/dmm.025783. Epub 2016 Jun 2.

13.

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

Anastasaki C, Woo AS, Messiaen LM, Gutmann DH.

Hum Mol Genet. 2015 Jun 15;24(12):3518-28. doi: 10.1093/hmg/ddv103. Epub 2015 Mar 18.

14.

Sex-discordant monochorionic twins with blood and tissue chimerism.

Rodriguez-Buritica D, Rojnueangnit K, Messiaen LM, Mikhail FM, Robin NH.

Am J Med Genet A. 2015 Apr;167A(4):872-7. doi: 10.1002/ajmg.a.37022. Epub 2015 Feb 23.

PMID:
25708669
15.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM.

Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22.

16.

Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.

Balikcioglu PG, Gómez R, Vargas A, Aradhya S, Messiaen LM, Lacassie Y.

Am J Med Genet A. 2013 Aug;161A(8):2105-7. doi: 10.1002/ajmg.a.36031. Epub 2013 Jul 4. No abstract available.

PMID:
23824603
17.

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM.

Pediatr Neurol. 2013 Jun;48(6):447-53. doi: 10.1016/j.pediatrneurol.2013.02.004.

PMID:
23668869
18.

Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.

Stevens CA, Chiang PW, Messiaen LM.

Am J Med Genet A. 2012 May;158A(5):1195-9. doi: 10.1002/ajmg.a.35297. Epub 2012 Mar 21.

PMID:
22438235
19.

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.

Callum P, Messiaen LM, Bower PV, Skovby F, Iger J, Timshel S, Sims CA, Falk RE.

Hum Reprod. 2012 Apr;27(4):1223-6. doi: 10.1093/humrep/des014. Epub 2012 Feb 10.

PMID:
22328556
20.

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

Bertola DR, Pereira AC, Brasil AC, Suzuki L, Leite C, Falzoni R, Tannuri U, Poplawski AB, Janowski KM, Kim CA, Messiaen LM.

Clin Genet. 2012 Jun;81(6):595-7. doi: 10.1111/j.1399-0004.2011.01764.x. Epub 2011 Dec 28. No abstract available.

PMID:
22211815
21.

Planning the human variome project: the Spain report.

Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting.

Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972.

22.

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.

Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM.

Am J Med Genet A. 2008 Nov 15;146A(22):2937-43. doi: 10.1002/ajmg.a.32550.

PMID:
18925675
23.

Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?

Stewart DR, Cogan JD, Kramer MR, Miller WT Jr, Christiansen LE, Pauciulo MW, Messiaen LM, Tu GS, Thompson WH, Pyeritz RE, Ryu JH, Nichols WC, Kodama M, Meyrick BO, Ross DJ.

Chest. 2007 Sep;132(3):798-808. Epub 2007 Jun 15.

PMID:
17573495
24.

Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.

Stewart DR, Corless CL, Rubin BP, Heinrich MC, Messiaen LM, Kessler LJ, Zhang PJ, Brooks DG.

J Med Genet. 2007 Jan;44(1):e61.

25.

Double inactivation of NF1 in tibial pseudarthrosis.

Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D'Astous JL, Santora SD, Viskochil DH.

Am J Hum Genet. 2006 Jul;79(1):143-8. Epub 2006 May 10.

26.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E.

Am J Hum Genet. 2005 Aug;77(2):205-18. Epub 2005 Jun 16.

27.
28.

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM.

J Med Genet. 2005 Apr;42(4):336-49. No abstract available.

29.

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC.

Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.

PMID:
15452077
30.

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Messiaen LM, Callens T, Roux KJ, Mortier GR, De Paepe A, Abramowicz M, Pericak-Vance MA, Vance JM, Wallace MR.

Genet Med. 1999 Sep-Oct;1(6):248-53.

PMID:
11258625
31.

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD.

Hum Mutat. 2000;15(6):541-55.

PMID:
10862084
32.

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Mortier GR, Messiaen LM, Espeel M, Smets KJ, Vanzieleghem BD, Roels F, De Paepe AM.

Pediatr Radiol. 1998 Oct;28(10):790-3.

PMID:
9799302
33.

Qualitative and quantitative analysis of tumour invasion in vivo and in vitro.

Mareel MM, Van Roy FM, Messiaen LM, Boghaert ER, Bruyneel EA.

J Cell Sci Suppl. 1987;8:141-63. Review.

PMID:
3332658

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