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Items: 15

1.

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.

Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor MC, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D.

Cell. 2018 May 31;173(6):1356-1369.e22. doi: 10.1016/j.cell.2018.03.051. Epub 2018 May 31.

PMID:
29856954
2.

A novel link between keratoderma and cardiomyopathy: contiguous gene deletion involving the desmoglein gene cluster.

Brown S, Ahmed J, Zwolinski S, Brennan P, Rajan N.

Br J Dermatol. 2018 Jan;178(1):284-285. doi: 10.1111/bjd.15584. Epub 2017 Nov 16. No abstract available.

3.

Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.

Wilson BT, Omer M, Hellens SW, Zwolinski SA, Yates LM, Lynch SA.

Am J Med Genet A. 2015 Aug;167A(8):1916-20. doi: 10.1002/ajmg.a.37114. Epub 2015 Apr 21.

PMID:
25900906
4.

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.

Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai Man P, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurogenet. 2013 Dec;27(4):176-82. doi: 10.3109/01677063.2013.831094. Epub 2013 Nov 4.

5.

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F.

Eur J Med Genet. 2013 Apr;56(4):216-21. doi: 10.1016/j.ejmg.2013.01.005. Epub 2013 Jan 26.

6.

Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.

Wilson BT, Hellens SW, Breese GJ, Zwolinski SA, Wright MJ.

Clin Dysmorphol. 2012 Oct;21(4):196-9. doi: 10.1097/MCD.0b013e328356d409. No abstract available.

PMID:
22772582
7.

A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?

Wilson BT, Newby R, Watts K, Hellens SW, Zwolinski SA, Splitt MP.

Clin Dysmorphol. 2012 Jan;21(1):33-6. doi: 10.1097/MCD.0b013e32834e7f9f.

PMID:
22107929
8.

Neurogenic properties and a clinical relevance of multipotent stem cells derived from cord blood samples stored in the biobanks.

Jurga M, Forraz N, Basford C, Atzeni G, Trevelyan AJ, Habibollah S, Ali H, Zwolinski SA, McGuckin CP.

Stem Cells Dev. 2012 Apr 10;21(6):923-36. doi: 10.1089/scd.2011.0224. Epub 2011 Sep 7.

PMID:
21732816
9.

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.

Bateman MS, Mehta SG, Willatt L, Selkirk E, Bedwell C, Zwolinski S, Sparnon L, Simonic I, Abbott K, Barber JC.

Am J Med Genet A. 2010 Jul;152A(7):1764-9. doi: 10.1002/ajmg.a.33426.

PMID:
20583179
10.

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.

Eur J Hum Genet. 2008 Jan;16(1):18-27. Epub 2007 Oct 17.

11.

Immortalisation of human ovarian surface epithelium with telomerase and temperature-sensitive SV40 large T antigen.

Davies BR, Steele IA, Edmondson RJ, Zwolinski SA, Saretzki G, von Zglinicki T, O'Hare MJ.

Exp Cell Res. 2003 Aug 15;288(2):390-402.

PMID:
12915130
13.

Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J.

J Med Genet. 1995 Mar;32(3):227-30.

14.
15.

New equations and a method for finding nine parameter values for two alleles at one locus to study gene conversion using Ascobolus immersus.

Lamb BC, Zwolinski SA.

Genome. 1992 Jun;35(3):421-7. Erratum in: Genome 1993 Oct;36(5):1006.

PMID:
1624132

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