Maloney VK - Search Results

1

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. Among authors: maloney vk. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.

2

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: maloney vk. 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

3

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH.

Mercer CL, Browne CE, Barber JC, Maloney VK, Huang S, Thomas NS, Foulds N, MacLachlan N. Mercer CL, et al. Among authors: maloney vk. Cytogenet Genome Res. 2009;124(2):179-86. doi: 10.1159/000207526. Epub 2009 May 5. Cytogenet Genome Res. 2009. PMID: 19420931

4

A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.

Barber JC, Brasch-Andersen C, Maloney VK, Huang S, Bateman MS, Graakjaer J, Heinl UD, Fagerberg C. Barber JC, et al. Among authors: maloney vk. Cytogenet Genome Res. 2013;139(1):59-64. doi: 10.1159/000342542. Epub 2012 Oct 2. Cytogenet Genome Res. 2013. PMID: 23038475

5

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M. Ozgen HM, et al. Among authors: maloney vk. Clin Genet. 2009 Oct;76(4):348-56. doi: 10.1111/j.1399-0004.2009.01254.x. Clin Genet. 2009. PMID: 19793310

6

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.

Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE. Wilson HL, et al. Eur J Hum Genet. 2008 Nov;16(11):1301-10. doi: 10.1038/ejhg.2008.107. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523453

7

Another family with a euchromatic duplication variant of 9q13-q21.1 derived from segmentally duplicated pericentromeric euchromatin.

Barber JC, Rodrigues R, Maloney VK, Taborda F, do C Rodrigues M, Bateman MS. Barber JC, et al. Among authors: maloney vk. Cytogenet Genome Res. 2013;141(1):64-9. doi: 10.1159/000350870. Epub 2013 May 4. Cytogenet Genome Res. 2013. PMID: 23651944

8

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities.

Cockwell AE, Maloney VK, Thomas NS, Smith EL, Gonda P, Bass P, Crolla JA. Cockwell AE, et al. Among authors: maloney vk. Cytogenet Genome Res. 2006;112(1-2):166-9. doi: 10.1159/000087530. Cytogenet Genome Res. 2006. PMID: 16276107

9

Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect.

Barber JC, Zhang S, Friend N, Collins AL, Maloney VK, Hastings R, Farren B, Barnicoat A, Polityko AD, Rumyantseva NV, Starke H, Ye S. Barber JC, et al. Among authors: maloney vk. Cytogenet Genome Res. 2006;114(3-4):351-8. doi: 10.1159/000094225. Cytogenet Genome Res. 2006. PMID: 16954678

10

Male breast cancer, age and sex chromosome aneuploidy.

Jacobs PA, Maloney V, Cooke R, Crolla JA, Ashworth A, Swerdlow AJ. Jacobs PA, et al. Br J Cancer. 2013 Mar 5;108(4):959-63. doi: 10.1038/bjc.2012.577. Epub 2013 Jan 8. Br J Cancer. 2013. PMID: 23299533 Free PMC article.

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