Anderlid BM - Search Results

1

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J. Bremer A, et al. Among authors: anderlid bm. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):115-24. doi: 10.1002/ajmg.b.31142. Epub 2010 Dec 8. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302340

2

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

3

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP. Grigelioniene G, et al. Among authors: anderlid bm. Hum Genet. 2001 Nov;109(5):551-8. doi: 10.1007/s00439-001-0609-y. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735031

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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