Sistermans EA - Search Results

1

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: sistermans ea. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.

2

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Kremer H, et al. Among authors: sistermans ea. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. Hum Genet. 1996. PMID: 8882866 Free article.

3

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, de Vries B, van den Ouweland A, Sistermans E, Galjaard H, Oostra BA. Willemsen R, et al. Hum Genet. 1997 Mar;99(3):308-11. doi: 10.1007/s004390050363. Hum Genet. 1997. PMID: 9050914 Free article.

4

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. Willatt L, et al. Among authors: sistermans ea. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918153 Free PMC article.

5

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Among authors: sistermans ea. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 Free PMC article.

6

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM. Woodward KJ, et al. Among authors: sistermans ea. Am J Hum Genet. 2005 Dec;77(6):966-87. doi: 10.1086/498048. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380909 Free PMC article.

7

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BBA. Koolen DA, et al. Among authors: sistermans ea. J Hum Genet. 2006;51(8):721-726. doi: 10.1007/s10038-006-0010-8. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865294

8

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.

Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA. Menko FH, et al. Among authors: sistermans ea. Clin Genet. 2008 Aug;74(2):145-54. doi: 10.1111/j.1399-0004.2008.01026.x. Epub 2008 May 28. Clin Genet. 2008. PMID: 18510548 Free article.

9

Smoothing waves in array CGH tumor profiles.

van de Wiel MA, Brosens R, Eilers PH, Kumps C, Meijer GA, Menten B, Sistermans E, Speleman F, Timmerman ME, Ylstra B. van de Wiel MA, et al. Bioinformatics. 2009 May 1;25(9):1099-104. doi: 10.1093/bioinformatics/btp132. Epub 2009 Mar 10. Bioinformatics. 2009. PMID: 19276148

10

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA. Beunders G, et al. Among authors: sistermans ea. J Med Genet. 2010 Apr;47(4):271-5. doi: 10.1136/jmg.2009.070490. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752158

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