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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. Beunders G, et al. Among authors: meijers heijboer ej. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205402 Free PMC article.
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L; DDD study; Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ, Sistermans EA. Beunders G, et al. Among authors: meijers heijboer ej. J Med Genet. 2016 Aug;53(8):523-32. doi: 10.1136/jmedgenet-2015-103601. Epub 2016 Apr 13. J Med Genet. 2016. PMID: 27075013
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
Wijnen J, Khan PM, Vasen H, Menko F, van der Klift H, van den Broek M, van Leeuwen-Cornelisse I, Nagengast F, Meijers-Heijboer EJ, Lindhout D, Griffioen G, Cats A, Kleibeuker J, Varesco L, Bertario L, Bisgaard ML, Mohr J, Kolodner R, Fodde R. Wijnen J, et al. Am J Hum Genet. 1996 Feb;58(2):300-7. Am J Hum Genet. 1996. PMID: 8571956 Free PMC article.
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.
Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R. Wagner A, et al. J Med Genet. 2001 May;38(5):318-22. doi: 10.1136/jmg.38.5.318. J Med Genet. 2001. PMID: 11333868 Free PMC article.
BRCA1 in the family: a case description of the psychological implications.
DudokdeWit AC, Tibben A, Frets PG, Meijers-Heijboer EJ, Devilee P, Klijn JG, Oosterwijk JC, Niermeijer MF. DudokdeWit AC, et al. Am J Med Genet. 1997 Jul 11;71(1):63-71. doi: 10.1002/(sici)1096-8628(19970711)71:1<63::aid-ajmg12>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9215771
36 results