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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J. Bruno DL, et al. Among authors: anderlid bm. J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906. J Med Genet. 2010. PMID: 20452996
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
Schuster J, Klar J, Khalfallah A, Laan L, Hoeber J, Fatima A, Sequeira VM, Jin Z, Korol SV, Huss M, Nordgren A, Anderlid BM, Gallant C, Birnir B, Dahl N. Schuster J, et al. Among authors: anderlid bm. Front Mol Neurosci. 2022 Oct 24;15:988993. doi: 10.3389/fnmol.2022.988993. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36353360 Free PMC article.
FISH-mapping of a 100-kb terminal 22q13 deletion.
Anderlid BM, Schoumans J, Annerén G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjöld M. Anderlid BM, et al. Hum Genet. 2002 May;110(5):439-43. doi: 10.1007/s00439-002-0713-7. Epub 2002 Apr 4. Hum Genet. 2002. PMID: 12073014
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: anderlid bm. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279
118 results