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Items: 23

1.

A k-Nearest Neighbours Approach Using Metabolism-related Fingerprints to Improve In Silico Metabolite Ranking.

Marchant CA, Rosser EM, Vessey JD.

Mol Inform. 2017 Mar;36(3). doi: 10.1002/minf.201600105. Epub 2016 Oct 25.

PMID:
27778484
2.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH.

Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Epub 2014 Aug 13. Review.

3.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM; UK10K, Mitchison HM.

J Med Genet. 2014 Jan;51(1):61-7. doi: 10.1136/jmedgenet-2013-101938. Epub 2013 Nov 7.

4.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE.

J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec.

PMID:
23018678
5.

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

Van Esch H, Rosser EM, Janssens S, Van Ingelghem I, Loeys B, Menten B.

J Med Genet. 2010 Oct;47(10):717-20. doi: 10.1136/jmg.2010.077586. Epub 2010 Aug 3.

PMID:
20685673
6.

IUPHAR-DB: the IUPHAR database of G protein-coupled receptors and ion channels.

Harmar AJ, Hills RA, Rosser EM, Jones M, Buneman OP, Dunbar DR, Greenhill SD, Hale VA, Sharman JL, Bonner TI, Catterall WA, Davenport AP, Delagrange P, Dollery CT, Foord SM, Gutman GA, Laudet V, Neubig RR, Ohlstein EH, Olsen RW, Peters J, Pin JP, Ruffolo RR, Searls DB, Wright MW, Spedding M.

Nucleic Acids Res. 2009 Jan;37(Database issue):D680-5. doi: 10.1093/nar/gkn728. Epub 2008 Oct 23.

7.

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER.

Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e.

PMID:
18443314
8.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.

9.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB.

Eur J Hum Genet. 2005 Sep;13(9):1019-24.

10.

International Union of Pharmacology. XLVI. G protein-coupled receptor list.

Foord SM, Bonner TI, Neubig RR, Rosser EM, Pin JP, Davenport AP, Spedding M, Harmar AJ.

Pharmacol Rev. 2005 Jun;57(2):279-88. Review.

PMID:
15914470
11.

Synthetic anisomycin analogues activating the JNK/SAPK1 and p38/SAPK2 pathways.

Rosser EM, Morton S, Ashton KS, Cohen P, Hulme AN.

Org Biomol Chem. 2004 Jan 7;2(1):142-9. Epub 2003 Dec 2.

PMID:
14737674
12.

Medulloblastoma as a first presentation of fanconi anemia.

Tischkowitz MD, Chisholm J, Gaze M, Michalski A, Rosser EM.

J Pediatr Hematol Oncol. 2004 Jan;26(1):52-5. Review.

PMID:
14707715
13.

An aldol-based approach to the synthesis of the antibiotic anisomycin.

Hulme AN, Rosser EM.

Org Lett. 2002 Jan 24;4(2):265-7.

PMID:
11796066
14.

Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis.

Bates AW, Hall CM, Morgan H, Rosser EM, Scheimberg I.

Clin Dysmorphol. 2002 Jan;11(1):63-6.

PMID:
11822708
15.

Keratoconus associated with a chromosome 7,11 translocation.

Morrison DA, Rosser EM, Claoué C.

Eye (Lond). 2001 Aug;15(Pt 4):556-7. No abstract available.

PMID:
11767043
16.

Diagnostic re-evaluation of a case of 'cerebellar atrophy with Huntington's disease'.

White SM, Gubbay SS, Norbury CG, Rosser EM, Huson SM.

J Neurol Sci. 2000 Mar 1;174(1):47-8. No abstract available.

PMID:
10798915
17.

Drugs for epilepsy have teratogenic risks.

Rosser EM, Wilson LC.

BMJ. 1999 May 8;318(7193):1289. No abstract available.

18.

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.

Rosser EM, Kaariainen H, Hurst JA, Baraitser M, Hall CM, Clayton P, Leonard JV.

Clin Dysmorphol. 1998 Apr;7(2):79-85. Review.

PMID:
9571276
19.

Cancer families: what risks are they given and do the risks affect management?

Rosser EM, Hurst JA, Chapman CJ.

J Med Genet. 1996 Dec;33(12):977-80.

20.

Nance-Sweeney chondrodysplasia--a further case?

Rosser EM, Hall CM, Harper J, Lacour M, Baraitser M.

Clin Dysmorphol. 1996 Jul;5(3):207-12.

PMID:
8818448
21.

Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.

Rosser EM, Mann NP, Hall CM, Winter RM.

Clin Dysmorphol. 1996 Apr;5(2):105-13. Review.

PMID:
8723560
22.

Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence.

Rosser EM, Wilkinson AR, Hurst JA, McGaughran JM, Donnai D.

Am J Med Genet. 1995 Sep 11;58(3):217-21.

PMID:
8533820
23.

Campbell De Morgan and his spots.

Rosser EM.

Ann R Coll Surg Engl. 1983 Jul;65(4):266-8. No abstract available.

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