Engelen J - Search Results

1

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: engelen j. 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

2

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO. Gümüş H, et al. Among authors: engelen j. Dev Med Child Neurol. 2010 Sep;52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22. Dev Med Child Neurol. 2010. PMID: 20573177 Free article.

3

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. Among authors: engelen jj. 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.

4

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. Among authors: engelen jj. 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

5

Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).

Caglayan AO, Engelen JJ, Ghesquiere S, Alofs M, Saatci C, Dundar M. Caglayan AO, et al. Among authors: engelen jj. Genet Couns. 2009;20(4):333-40. Genet Couns. 2009. PMID: 20162868

6

Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.

de Die-Smulders CE, Engelen JJ, Albrechts JC, Hamers GJ. de Die-Smulders CE, et al. Among authors: engelen jj. Am J Med Genet. 1999 Oct 8;86(4):385-8. doi: 10.1002/(sici)1096-8628(19991008)86:4<385::aid-ajmg14>3.0.co;2-s. Am J Med Genet. 1999. PMID: 10494096

7

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

Spruijt L, Engelen JJ, Bruinen-Smeijsters IP, Albrechts JC, Schrander J, Schrander-Stumpel CT. Spruijt L, et al. Among authors: engelen jj. Am J Med Genet A. 2004 Sep 1;129A(3):312-5. doi: 10.1002/ajmg.a.30185. Am J Med Genet A. 2004. PMID: 15326635

8

Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH.

de Pater J, Van der Sijs-Bos C, Prins M, Derks J, Albrechts J, Engelen J. de Pater J, et al. Among authors: engelen j. Eur J Med Genet. 2006 Jul-Aug;49(4):306-12. doi: 10.1016/j.ejmg.2005.12.006. Epub 2006 Jan 19. Eur J Med Genet. 2006. PMID: 16461028

9

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. Among authors: engelen jj. 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

10

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. Among authors: engelen jj. Cancer Genet Cytogenet. 2010 Aug;201(1):48-51. doi: 10.1016/j.cancergencyto.2010.05.002. Cancer Genet Cytogenet. 2010. PMID: 20633769

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