Anderlid BM - Search Results

1

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjöld M, Syk Lundberg E, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A. Kvarnung M, et al. Among authors: anderlid bm. Front Genet. 2019 Sep 24;10:896. doi: 10.3389/fgene.2019.00896. eCollection 2019. Front Genet. 2019. PMID: 31608123 Free PMC article.

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, Staaf J, Thuresson AC, Borg A, Nordgren A, Malm G, Anderlid BM. Schoumans J, et al. Among authors: anderlid bm. Eur J Hum Genet. 2007 Feb;15(2):143-9. doi: 10.1038/sj.ejhg.5201737. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106445

10

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).

Zhou XL, Giacobini M, Anderlid BM, Anckarsäter H, Omrani D, Gillberg C, Nordenskjöld M, Lindblom A. Zhou XL, et al. Among authors: anderlid bm. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):351-4. doi: 10.1002/ajmg.b.30415. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17221838

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