Anderlid BM - 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: anderlid bm. 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

Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q).

Björck EJ, Anderlid BM, Blennow E. Björck EJ, et al. Among authors: anderlid bm. Am J Med Genet. 1999 Nov 5;87(1):49-52. doi: 10.1002/(sici)1096-8628(19991105)87:1<49::aid-ajmg10>3.0.co;2-4. Am J Med Genet. 1999. PMID: 10528247

3

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. 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

4

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. Am J Med Genet. 2002 Feb 1;107(4):275-84. doi: 10.1002/ajmg.10029. Am J Med Genet. 2002. PMID: 11840483

5

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

6

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. Eur J Hum Genet. 2003 Jan;11(1):89-92. doi: 10.1038/sj.ejhg.5200907. Eur J Hum Genet. 2003. PMID: 12529712

7

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: anderlid bm. Eur J Hum Genet. 2004 Jun;12(6):447-54. doi: 10.1038/sj.ejhg.5201175. Eur J Hum Genet. 2004. PMID: 15026784

8

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: anderlid bm. Eur J Hum Genet. 2005 Feb;13(2):260-3. doi: 10.1038/sj.ejhg.5201309. Eur J Hum Genet. 2005. PMID: 15494738

9

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: anderlid bm. 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

10

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: anderlid bm. 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

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