Schoumans J - Search Results

1

Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.

Soysal Y, Balci S, Hekimler K, Liehr T, Ewers E, Schoumans J, Bui TH, Içduygu FM, Kosyakova N, Imirzalioğlu N. Soysal Y, et al. Among authors: schoumans j. Am J Med Genet A. 2009 Dec;149A(12):2782-7. doi: 10.1002/ajmg.a.33069. Am J Med Genet A. 2009. PMID: 19921639

2

Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR.

Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, Strømme P, Akre B, Vermeulen S. Houge G, et al. Among authors: schoumans j. Am J Med Genet A. 2003 Apr 30;118A(3):235-40. doi: 10.1002/ajmg.a.10106. Am J Med Genet A. 2003. PMID: 12673653

3

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).

Schoumans J, Sanner G, Nordenskjöld M, Anderlid BM. Schoumans J, et al. Am J Med Genet A. 2005 Apr 30;134(3):254-8. doi: 10.1002/ajmg.a.30611. Am J Med Genet A. 2005. PMID: 15704131

4

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.

Anderlid BM, Sahlén S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. Anderlid BM, et al. Among authors: schoumans j. Am J Med Genet. 2001 Mar 15;99(3):223-33. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1146>3.0.co;2-w. Am J Med Genet. 2001. PMID: 11241494

5

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: schoumans j. J Med Genet. 2008 Feb;45(2):71-80. doi: 10.1136/jmg.2007.052910. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873117

6

Molecular and clinical characterization of patients with overlapping 10p deletions.

Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, Anderlid BM, Golovleva I, Schoumans J, Blennow E. Lindstrand A, et al. Among authors: schoumans j. Am J Med Genet A. 2010 May;152A(5):1233-43. doi: 10.1002/ajmg.a.33366. Am J Med Genet A. 2010. PMID: 20425828

7

Detailed molecular and clinical characterization of three patients with 21q deletions.

Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. Lindstrand A, et al. Among authors: schoumans j. Clin Genet. 2010 Feb;77(2):145-54. doi: 10.1111/j.1399-0004.2009.01289.x. Epub 2009 Oct 23. Clin Genet. 2010. PMID: 19863549

8

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M. Bremer A, et al. Among authors: schoumans j. Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1. Eur J Med Genet. 2009. PMID: 19576304

9

Concurrent microdeletion and duplication of 22q11.2.

Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B. Blennow E, et al. Among authors: schoumans j. Clin Genet. 2008 Jul;74(1):61-7. doi: 10.1111/j.1399-0004.2008.01008.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445048

10

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion.

Lindstrand A, Malmgren H, Sahlén S, Xin H, Schoumans J, Blennow E. Lindstrand A, et al. Among authors: schoumans j. Am J Med Genet A. 2008 Dec 15;146A(24):3217-22. doi: 10.1002/ajmg.a.32570. Am J Med Genet A. 2008. PMID: 19006217 No abstract available.

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