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Items: 1 to 50 of 171

1.

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation.

Dean M, Messiaen L, Cooper GM, Amaral MD, Rashid S, Korf BR, Standaert DG.

Neurology. 2019 Sep 10;93(11):510-514. doi: 10.1212/WNL.0000000000008089. No abstract available.

PMID:
31501304
2.

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
3.

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
4.

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Summerer A, Schäfer E, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Genet. 2019 Jan;138(1):73-81. doi: 10.1007/s00439-018-1961-5. Epub 2018 Nov 26.

PMID:
30478644
5.

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
6.

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
7.

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1.

Isakson SH, Rizzardi AE, Coutts AW, Carlson DF, Kirstein MN, Fisher J, Vitte J, Williams KB, Pluhar GE, Dahiya S, Widemann BC, Dombi E, Rizvi T, Ratner N, Messiaen L, Stemmer-Rachamimov AO, Fahrenkrug SC, Gutmann DH, Giovannini M, Moertel CL, Largaespada DA, Watson AL.

Commun Biol. 2018 Oct 2;1:158. doi: 10.1038/s42003-018-0163-y. eCollection 2018.

8.

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
9.

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
10.

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.

PMID:
30104415
11.

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Summerer A, Mautner VF, Upadhyaya M, Claes KBM, Högel J, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Genet. 2018 Jul;137(6-7):511-520. doi: 10.1007/s00439-018-1904-1. Epub 2018 Jul 10.

PMID:
29992513
12.

Schwannomatosis.

Dhamija R, Plotkin S, Asthagiri A, Messiaen L, Babovic-Vuksanovic D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2018 Mar 8.

13.

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.

14.

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.

15.

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
16.

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
17.

panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.

Povysil G, Tzika A, Vogt J, Haunschmid V, Messiaen L, Zschocke J, Klambauer G, Hochreiter S, Wimmer K.

Hum Mutat. 2017 Jul;38(7):889-897. doi: 10.1002/humu.23237. Epub 2017 May 16.

18.

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
19.

Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.

Gripp KW, Baker L, Kandula V, Piatt J, Walter A, Chen Z, Messiaen L.

Clin Genet. 2017 Nov;92(5):540-543. doi: 10.1111/cge.13013. Epub 2017 Apr 19.

PMID:
28295212
20.

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.

Hsiao MC, Piotrowski A, Poplawski AB, Callens T, Fu C, Messiaen L.

Neurogenetics. 2017 Jul;18(3):169-174. doi: 10.1007/s10048-017-0512-x. Epub 2017 Mar 11.

PMID:
28285357
21.

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
22.

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Wimmer K, Rosenbaum T, Messiaen L.

Clin Genet. 2017 Apr;91(4):507-519. doi: 10.1111/cge.12904. Epub 2017 Jan 10. Review.

PMID:
27779754
23.

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.

24.

Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.

Jobling RK, Lara-Corrales I, Hsiao MC, Shugar A, Hedges S, Messiaen L, Kannu P.

Br J Dermatol. 2017 Apr;176(4):1077-1078. doi: 10.1111/bjd.14873. Epub 2017 Feb 5. No abstract available.

PMID:
27423141
25.

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.

26.

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

Hillmer M, Wagner D, Summerer A, Daiber M, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mol Genet. 2016 Feb 1;25(3):484-96. doi: 10.1093/hmg/ddv487. Epub 2015 Nov 27.

PMID:
26614388
27.

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL.

Am J Med Genet A. 2015 Dec;167A(12):3186-91. doi: 10.1002/ajmg.a.37356. Epub 2015 Sep 14.

PMID:
26364901
28.

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Conboy E, Dhamija R, Wang M, Xie J, Dyck PJ, Bridges AG, Spinner RJ, Clayton AC, Watson RE, Messiaen L, Babovic-Vuksanovic D.

J Med Genet. 2016 Feb;53(2):123-6. doi: 10.1136/jmedgenet-2015-103177. Epub 2015 Sep 2.

PMID:
26337637
29.

Hypomagnesemia due to two novel TRPM6 mutations.

Coulter M, Colvin C, Korf B, Messiaen L, Tuanama B, Crowley M, Crossman DK, McCormick K.

J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1373-8. doi: 10.1515/jpem-2014-0394.

PMID:
26226117
30.

Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.

Ronowicz A, Janaszak-Jasiecka A, Skokowski J, Madanecki P, Bartoszewski R, Bałut M, Seroczyńska B, Kochan K, Bogdan A, Butkus M, Pęksa R, Ratajska M, Kuźniacka A, Wasąg B, Gucwa M, Krzyżanowski M, Jaśkiewicz J, Jankowski Z, Forsberg L, Ochocka JR, Limon J, Crowley MR, Buckley PG, Messiaen L, Dumanski JP, Piotrowski A.

Hum Mutat. 2015 Nov;36(11):1088-99. doi: 10.1002/humu.22845. Epub 2015 Aug 14.

PMID:
26219265
31.

Decoding NF1 Intragenic Copy-Number Variations.

Hsiao MC, Piotrowski A, Callens T, Fu C, Wimmer K, Claes KB, Messiaen L.

Am J Hum Genet. 2015 Aug 6;97(2):238-49. doi: 10.1016/j.ajhg.2015.06.002. Epub 2015 Jul 16.

32.

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.

33.

Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.

Putcha BD, Jia X, Katkoori VR, Salih C, Shanmugam C, Jadhav T, Bovell LC, Behring MP, Callens T, Messiaen L, Bae S, Grizzle WE, Singh KP, Manne U.

PLoS One. 2015 Jun 12;10(6):e0129216. doi: 10.1371/journal.pone.0129216. eCollection 2015.

34.

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L.

Am J Med Genet A. 2015 Aug;167A(8):1741-6. doi: 10.1002/ajmg.a.37089. Epub 2015 Apr 21.

35.

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.

36.

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
37.

Update from the 2013 International Neurofibromatosis Conference.

Plotkin SR, Albers AC, Babovic-Vuksanovic D, Blakeley JO, Breakefield XO, Dunn CM, Evans DG, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Kalamarides M, McClatchey AI, Messiaen L, Morrison H, Parkinson DB, Stemmer-Rachamimov AO, Van Raamsdonk CD, Riccardi VM, Rosser T, Schindeler A, Smith MJ, Stevenson DA, Ullrich NJ, van der Vaart T, Weiss B, Widemann BC, Zhu Y, Bakker AC, Lloyd AC.

Am J Med Genet A. 2014 Dec;164A(12):2969-78. doi: 10.1002/ajmg.a.36754. Epub 2014 Sep 24. No abstract available.

38.

Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.

Kehrer-Sawatzki H, Bengesser K, Callens T, Mikhail F, Fu C, Hillmer M, Walker ME, Saal HM, Lacassie Y, Cooper DN, Messiaen L.

Hum Mutat. 2014 Dec;35(12):1469-75. doi: 10.1002/humu.22692.

PMID:
25205021
39.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Vogt J, Bengesser K, Claes KB, Wimmer K, Mautner VF, van Minkelen R, Legius E, Brems H, Upadhyaya M, Högel J, Lazaro C, Rosenbaum T, Bammert S, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Genome Biol. 2014 Jun 2;15(6):R80. doi: 10.1186/gb-2014-15-6-r80.

40.

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.

Hsiao MC, Piotrowski A, Alexander J, Callens T, Fu C, Mikhail FM, Claes KB, Messiaen L.

Hum Mutat. 2014 Jul;35(7):891-8. doi: 10.1002/humu.22569. Epub 2014 May 21.

PMID:
24760680
41.

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.

42.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L.

Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14.

PMID:
24232412
43.

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2.

PMID:
24186807
44.

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
45.

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
46.

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

Plotkin SR, Blakeley JO, Evans DG, Hanemann CO, Hulsebos TJ, Hunter-Schaedle K, Kalpana GV, Korf B, Messiaen L, Papi L, Ratner N, Sherman LS, Smith MJ, Stemmer-Rachamimov AO, Vitte J, Giovannini M.

Am J Med Genet A. 2013 Mar;161A(3):405-16. doi: 10.1002/ajmg.a.35760. Epub 2013 Feb 7.

47.

Elucidating distinct roles for NF1 in melanomagenesis.

Maertens O, Johnson B, Hollstein P, Frederick DT, Cooper ZA, Messiaen L, Bronson RT, McMahon M, Granter S, Flaherty K, Wargo JA, Marais R, Cichowski K.

Cancer Discov. 2013 Mar;3(3):338-49. doi: 10.1158/2159-8290.CD-12-0313. Epub 2012 Nov 21.

48.

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, Fu C, van den Ende J, Mautner VF, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Mutat. 2012 Nov;33(11):1599-609. doi: 10.1002/humu.22171. Epub 2012 Aug 20.

PMID:
22837079
49.

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L.

Hum Mutat. 2012 Nov;33(11):1538-46. doi: 10.1002/humu.22152. Epub 2012 Aug 1. Review.

PMID:
22753041
50.

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Wernstedt A, Valtorta E, Armelao F, Togni R, Girlando S, Baudis M, Heinimann K, Messiaen L, Staehli N, Zschocke J, Marra G, Wimmer K.

Genes Chromosomes Cancer. 2012 Sep;51(9):819-31. doi: 10.1002/gcc.21966. Epub 2012 May 14.

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