Collinson MN - Search Results

1

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.

Willemsen MH, de Leeuw N, Mercer C, Eisenhauer H, Morris J, Collinson MN, Barber JC, Lam ST, Lo IF, Rensen H, Ferwerda A, Hamel BC, Kleefstra T. Willemsen MH, et al. Among authors: collinson mn. Am J Med Genet A. 2011 Jan;155A(1):106-12. doi: 10.1002/ajmg.a.33715. Epub 2010 Dec 15. Am J Med Genet A. 2011. PMID: 21204216

2

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Bateman MS, Collinson MN, Bunyan DJ, Collins AL, Duncan P, Firth R, Harrison V, Homfray T, Huang S, Kirk B, Lachlan KL, Maloney VK, Barber JCK. Bateman MS, et al. Among authors: collinson mn. Am J Med Genet A. 2018 Feb;176(2):319-329. doi: 10.1002/ajmg.a.38564. Epub 2017 Dec 1. Am J Med Genet A. 2018. PMID: 29194955

3

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M. Tatton-Brown K, et al. Among authors: collinson mn. Am J Med Genet A. 2009 Feb;149A(2):147-54. doi: 10.1002/ajmg.a.32534. Am J Med Genet A. 2009. PMID: 19133692

4

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

Balasubramanian M, Barber JC, Collinson MN, Huang S, Maloney VK, Bunyan D, Foulds N. Balasubramanian M, et al. Among authors: collinson mn. Am J Med Genet A. 2009 Feb 15;149A(4):793-7. doi: 10.1002/ajmg.a.32463. Am J Med Genet A. 2009. PMID: 19248177 Review. No abstract available.

5

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL. Barber JC, et al. Among authors: collinson mn. Am J Med Genet A. 2015 Sep;167A(9):2052-64. doi: 10.1002/ajmg.a.37120. Epub 2015 Jun 11. Am J Med Genet A. 2015. PMID: 26097203

6

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

Barber JC, Temple IK, Campbell PL, Collinson MN, Campbell CM, Renshaw RM, Dennis NR. Barber JC, et al. Among authors: collinson mn. Am J Med Genet. 1996 Mar 1;62(1):84-90. doi: 10.1002/(SICI)1096-8628(19960301)62:1<84::AID-AJMG17>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8779332

7

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.

Barber JC, Thomas NS, Collinson MN, Dennis NR, Liehr T, Weise A, Belitz B, Pfeiffer L, Kirchhoff M, Krag-Olsen B, Lundsteen C. Barber JC, et al. Among authors: collinson mn. Eur J Hum Genet. 2005 Mar;13(3):283-91. doi: 10.1038/sj.ejhg.5201267. Eur J Hum Genet. 2005. PMID: 15657610

8

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.

Kirk B, Kharbanda M, Bateman MS, Hunt D, Taylor EJ, Collins AL, Bunyan DJ, Collinson MN, Russell LM, Bowell S, Barber JCK. Kirk B, et al. Among authors: collinson mn. Cytogenet Genome Res. 2020;160(4):185-192. doi: 10.1159/000507409. Epub 2020 Apr 22. Cytogenet Genome Res. 2020. PMID: 32316019

9

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Barber JC, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JR, Dennis NR. Barber JC, et al. Among authors: collinson mn. J Med Genet. 1998 Jun;35(6):491-6. doi: 10.1136/jmg.35.6.491. J Med Genet. 1998. PMID: 9643291 Free PMC article.

10

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Salter CG, Baralle D, Collinson MN, Self JE. Salter CG, et al. Among authors: collinson mn. Am J Med Genet A. 2016 Apr;170A(4):1017-22. doi: 10.1002/ajmg.a.37436. Epub 2016 Jan 15. Am J Med Genet A. 2016. PMID: 26773965 Review.

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