Callens T - Search Results

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 KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: callens t. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.

2

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

Messiaen L, Callens T, De Paepe A, Craen M, Mortier G. Messiaen L, et al. Among authors: callens t. Hum Genet. 1997 Nov;101(1):75-80. doi: 10.1007/s004390050590. Hum Genet. 1997. PMID: 9385374

3

Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method.

Messiaen L, Callens T, Baele G. Messiaen L, et al. Among authors: callens t. Haemostasis. 1997 Sep-Oct;27(5):228-36. doi: 10.1159/000217461. Haemostasis. 1997. PMID: 9690481

4

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. Messiaen LM, et al. Among authors: callens t. Hum Mutat. 2000;15(6):541-55. doi: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10862084

5

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. Messiaen LM, et al. Among authors: callens t. Genet Med. 1999 Sep-Oct;1(6):248-53. doi: 10.1097/00125817-199909000-00002. Genet Med. 1999. PMID: 11258625 Free article.

6

Complex splicing pattern generates great diversity in human NF1 transcripts.

Vandenbroucke I, Callens T, De Paepe A, Messiaen L. Vandenbroucke I, et al. Among authors: callens t. BMC Genomics. 2002 May 24;3:13. doi: 10.1186/1471-2164-3-13. Epub 2002 May 24. BMC Genomics. 2002. PMID: 12057013 Free PMC article.

7

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.

Wimmer K, Mühlbauer M, Eckart M, Callens T, Rehder H, Birkner T, Leroy JG, Fonatsch C, Messiaen L. Wimmer K, et al. Among authors: callens t. Eur J Hum Genet. 2002 May;10(5):334-8. doi: 10.1038/sj.ejhg.5200807. Eur J Hum Genet. 2002. PMID: 12082509

8

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.

Vandenbroucke I, van Doorn R, Callens T, Cobben JM, Starink TM, Messiaen L. Vandenbroucke I, et al. Among authors: callens t. Hum Genet. 2004 Feb;114(3):284-90. doi: 10.1007/s00439-003-1047-9. Epub 2003 Nov 6. Hum Genet. 2004. PMID: 14605872

9

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglböck H, Maertens O, Messiaen L. Wimmer K, et al. Among authors: callens t. Genes Chromosomes Cancer. 2006 Mar;45(3):265-76. doi: 10.1002/gcc.20289. Genes Chromosomes Cancer. 2006. PMID: 16283621

10

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

Wimmer K, Roca X, Beiglböck H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L. Wimmer K, et al. Among authors: callens t. Hum Mutat. 2007 Jun;28(6):599-612. doi: 10.1002/humu.20493. Hum Mutat. 2007. PMID: 17311297

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