Stevens SJ - Search Results

1

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.

Stevens SJ, van Ravenswaaij-Arts CM, Janssen JW, Klein Wassink-Ruiter JS, van Essen AJ, Dijkhuizen T, van Rheenen J, Heuts-Vijgen R, Stegmann AP, Smeets EE, Engelen JJ. Stevens SJ, et al. Am J Med Genet A. 2011 Nov;155A(11):2739-45. doi: 10.1002/ajmg.a.34274. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990140

2

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis.

Stevens SJ, Smeets EE, Blom E, van Uum CM, Albrechts JC, Herbergs J, Janssen JW, Engelen JJ. Stevens SJ, et al. Am J Med Genet A. 2009 Oct;149A(10):2226-30. doi: 10.1002/ajmg.a.32967. Am J Med Genet A. 2009. PMID: 19725130

3

A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL.

Stevens SJ, Meers LE, Albrechts JC, Mebis-Verhees K, Bos GM, Engelen JJ, Janssen JW. Stevens SJ, et al. Cancer Genet Cytogenet. 2010 Aug;201(1):48-51. doi: 10.1016/j.cancergencyto.2010.05.002. Cancer Genet Cytogenet. 2010. PMID: 20633769

4

Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome.

Stevens SJ, Smeets EE, van den Broek N, Droog RP, Breukels MA, Albrechts JC, Rauh-van Delst M, Traa E, Lennarts M, Janssen JW, Engelen JJ. Stevens SJ, et al. Am J Med Genet A. 2010 Aug;152A(8):2123-6. doi: 10.1002/ajmg.a.33522. Am J Med Genet A. 2010. PMID: 20635365 No abstract available.

5

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.

van Uum CM, Stevens SJ, Dreesen JC, Drüsedau M, Smeets HJ, Hollanders-Crombach B, Die-Smulders CE, Geraedts JP, Engelen JJ, Coonen E. van Uum CM, et al. Among authors: stevens sj. Eur J Hum Genet. 2012 Sep;20(9):938-44. doi: 10.1038/ejhg.2012.27. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378284 Free PMC article.

6

A new syndrome of microtia with unilateral renal agenesis and short stature.

Caglayan AO, Stevens SJ, Albrechts JC, Dundar M, Engelen J. Caglayan AO, et al. Among authors: stevens sj. Am J Med Genet A. 2012 Aug;158A(8):1837-40. doi: 10.1002/ajmg.a.33653. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711661

7

A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.

Stevens SJ, Blom EW, Siegelaer IT, Smeets EE. Stevens SJ, et al. Eur J Hum Genet. 2015 Apr;23(4):543-6. doi: 10.1038/ejhg.2014.124. Epub 2014 Jul 2. Eur J Hum Genet. 2015. PMID: 24986827 Free PMC article.

8

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: stevens sj. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214

9

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Stessman HAF, et al. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004. Am J Hum Genet. 2016. PMID: 26942287 Free PMC article.

10

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C. Lelieveld SH, et al. Among authors: stevens sj. Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1. Nat Neurosci. 2016. PMID: 27479843 Review.

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