Nordenskjöld M - Search Results

1

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: nordenskjold m. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279

2

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

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

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

5

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Anderlid BM, Schoumans J, Hallqvist A, Ståhl Y, Wallin A, Blennow E, Nordenskjöld M. Anderlid BM, et al. Among authors: nordenskjold m. Eur J Hum Genet. 2003 Jan;11(1):89-92. doi: 10.1038/sj.ejhg.5200907. Eur J Hum Genet. 2003. PMID: 12529712

6

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

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

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

9

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

10

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

Koolen DA, Sistermans EA, Nilessen W, Knight SJ, Regan R, Liu YT, Kooy RF, Rooms L, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, van Kessel AG, Nordenskjold M, de Vries BB. Koolen DA, et al. Among authors: nordenskjold m. Eur J Hum Genet. 2008 Mar;16(3):395-400. doi: 10.1038/sj.ejhg.5201975. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159213

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