Nordenskjöld M - Search Results

1

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances.

Schoumans J, Anderlid BM, Blennow E, Teh BT, Nordenskjöld M. Schoumans J, et al. Among authors: nordenskjold m. J Med Genet. 2004 Mar;41(3):198-202. doi: 10.1136/jmg.2003.013920. J Med Genet. 2004. PMID: 14985382 Free PMC article. No abstract available.

2

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M. Schoumans J, et al. Among authors: nordenskjold m. J Med Genet. 2005 Sep;42(9):699-705. doi: 10.1136/jmg.2004.029637. J Med Genet. 2005. PMID: 16141005 Free PMC article.

3

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

Anderlid BM, Schoumans J, Annerén G, Sahlén S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjöld M. Anderlid BM, et al. Among authors: nordenskjold m. Am J Med Genet. 2002 Feb 1;107(4):275-84. doi: 10.1002/ajmg.10029. Am J Med Genet. 2002. PMID: 11840483

4

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.

Schoumans J, Nielsen K, Jeppesen I, Anderlid BM, Blennow E, Brøndum-Nielsen K, Nordenskjöld M. Schoumans J, et al. Among authors: nordenskjold m. Eur J Hum Genet. 2004 Jun;12(6):447-54. doi: 10.1038/sj.ejhg.5201175. Eur J Hum Genet. 2004. PMID: 15026784

5

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

Schoumans J, Nordgren A, Ruivenkamp C, Brøndum-Nielsen K, Teh BT, Annéren G, Holmberg E, Nordenskjöld M, Anderlid BM. Schoumans J, et al. Among authors: nordenskjold m. Eur J Hum Genet. 2005 Feb;13(2):260-3. doi: 10.1038/sj.ejhg.5201309. Eur J Hum Genet. 2005. PMID: 15494738

6

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. Among authors: nordenskjold m. 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

7

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

Schoumans J, Staaf J, Jönsson G, Rantala J, Zimmer KS, Borg A, Nordenskjöld M, Anderlid BM. Schoumans J, et al. Among authors: nordenskjold m. Eur J Med Genet. 2005 Jul-Sep;48(3):290-300. doi: 10.1016/j.ejmg.2005.05.004. Eur J Med Genet. 2005. PMID: 16179224

8

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

Gustavsson P, Schoumans J, Staaf J, Borg A, Nordenskjöld M, Annerén G. Gustavsson P, et al. Among authors: nordenskjold m. Eur J Med Genet. 2007 May-Jun;50(3):237-41. doi: 10.1016/j.ejmg.2007.01.004. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17387046

9

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. Among authors: nordenskjold m. Hum Genet. 2002 May;110(5):439-43. doi: 10.1007/s00439-002-0713-7. Epub 2002 Apr 4. Hum Genet. 2002. PMID: 12073014

10

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: nordenskjold m. 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

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