Pesquisa | Portal de Pesquisa da BVS

1.

A pan-cancer compendium of chromosomal instability.

Drews, Ruben M; Hernando, Barbara; Tarabichi, Maxime; Haase, Kerstin; Lesluyes, Tom; Smith, Philip S; Morrill Gavarró, Lena; Couturier, Dominique-Laurent; Liu, Lydia; Schneider, Michael; Brenton, James D; Van Loo, Peter; Macintyre, Geoff; Markowetz, Florian.

Nature ; 606(7916): 976-983, 2022 06.

Artigo em Inglês | MEDLINE | ID: mdl-35705807

2.

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir, Bryndis; Andreou, Avgi; Bassaganyas, Laia; Larionov, Alexey; Cornish, Alex J; Chubb, Daniel; Saunders, Charlie N; Smith, Philip S; Zhang, Huairen; Cole, Yasemin; Research Consortium, Genomics England; Larkin, James; Browning, Lisa; Turajlic, Samra; Litchfield, Kevin; Houlston, Richard S; Maher, Eamonn R.

Hum Mol Genet ; 31(17): 3001-3011, 2022 08 25.

Artigo em Inglês | MEDLINE | ID: mdl-35441217

3.

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.

Smith, Philip S; West, Hannah; Whitworth, James; Castle, Bruce; Sansbury, Francis H; Warren, Anne Y; Woodward, Emma R; Tischkowitz, Marc; Maher, Eamonn R.

Genes Chromosomes Cancer ; 60(1): 5-16, 2021 01.

Artigo em Inglês | MEDLINE | ID: mdl-32830346

4.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth, James; Smith, Philip S; Martin, Jose-Ezequiel; West, Hannah; Luchetti, Andrea; Rodger, Faye; Clark, Graeme; Carss, Keren; Stephens, Jonathan; Stirrups, Kathleen; Penkett, Chris; Mapeta, Rutendo; Ashford, Sofie; Megy, Karyn; Shakeel, Hassan; Ahmed, Munaza; Adlard, Julian; Barwell, Julian; Brewer, Carole; Casey, Ruth T; Armstrong, Ruth; Cole, Trevor; Evans, Dafydd Gareth; Fostira, Florentia; Greenhalgh, Lynn; Hanson, Helen; Henderson, Alex; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Kwong, Ava; Lalloo, Fiona; Ong, Kai Ren; Paterson, Joan; Park, Soo-Mi; Chen-Shtoyerman, Rakefet; Searle, Claire; Side, Lucy; Skytte, Anne-Bine; Snape, Katie; Woodward, Emma R; Tischkowitz, Marc D; Maher, Eamonn R.

Am J Hum Genet ; 103(1): 3-18, 2018 07 05.

Artigo em Inglês | MEDLINE | ID: mdl-29909963

5.

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.

Smith, Philip S; Whitworth, James; West, Hannah; Cook, Jacqueline; Gardiner, Carol; Lim, Derek H K; Morrison, Patrick J; Hislop, R Gordon; Murray, Emily; Tischkowitz, Marc; Warren, Anne Y; Woodward, Emma R; Maher, Eamonn R.

Genes Chromosomes Cancer ; 59(6): 333-347, 2020 06.

Artigo em Inglês | MEDLINE | ID: mdl-31943436

6.

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.

Whitworth, James; Casey, Ruth T; Smith, Philip S; Giger, Olivier; Martin, Jose Ezequiel; Clark, Graeme; Cook, Jaqueline; Fernando, Marlee S; Taniere, Phillipe; Maher, Eamonn R.

Eur J Hum Genet ; 29(7): 1139-1145, 2021 07.

Artigo em Inglês | MEDLINE | ID: mdl-33854214

7.

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Casey, Ruth T; Ten Hoopen, Rogier; Ochoa, Eguzkine; Challis, Benjamin G; Whitworth, James; Smith, Philip S; Martin, Jose Ezequiel; Clark, Graeme R; Rodger, Fay; Maranian, Mel; Allinson, Kieren; Madhu, Basetti; Roberts, Thomas; Campos, Luis; Anstee, Joanne; Park, Soo-Mi; Marker, Alison; Watts, Colin; Bulusu, Venkata R; Giger, Olivier T; Maher, Eamonn R.

Sci Rep ; 9(1): 10244, 2019 07 15.

Artigo em Inglês | MEDLINE | ID: mdl-31308404

8.

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey, Ruth T; Ascher, David B; Rattenberry, Eleanor; Izatt, Louise; Andrews, Katrina A; Simpson, Helen L; Challis, Benjamen; Park, Soo-Mi; Bulusu, Venkata R; Lalloo, Fiona; Pires, Douglas E V; West, Hannah; Clark, Graeme R; Smith, Philip S; Whitworth, James; Papathomas, Thomas G; Taniere, Phillipe; Savisaar, Rosina; Hurst, Laurence D; Woodward, Emma R; Maher, Eamonn R.

Mol Genet Genomic Med ; 5(3): 237-250, 2017 May.

Artigo em Inglês | MEDLINE | ID: mdl-28546994

9.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Casey, Ruth T; Warren, Anne Y; Martin, Jose Ezequiel; Challis, Benjamin G; Rattenberry, Eleanor; Whitworth, James; Andrews, Katrina A; Roberts, Thomas; Clark, Graeme R; West, Hannah; Smith, Philip S; Docquier, France M; Rodger, Fay; Murray, Vicki; Simpson, Helen L; Wallis, Yvonne; Giger, Olivier; Tran, Maxine; Tomkins, Susan; Stewart, Grant D; Park, Soo-Mi; Woodward, Emma R; Maher, Eamonn R.

J Clin Endocrinol Metab ; 102(11): 4013-4022, 2017 11 01.

Artigo em Inglês | MEDLINE | ID: mdl-28973655

10.

It's my turn.

Smith, Philip S.

Clin Infect Dis ; 41(10): 1545; author reply 1545-6, 2005 Nov 15.

Artigo em Inglês | MEDLINE | ID: mdl-16231277

11.

The synthesis and crystal structures of halogenated tolans p-X-C6H4-C[triple bond]C-C6F5 and p-X-C6F4-C[triple bond]C-C6H5(X=F, Cl, Br, I).

Collings, Jonathan C; Burke, Jacquelyn M; Smith, Philip S; Batsanov, Andrei S; Howard, Judith A K; Marder, Todd B.

Org Biomol Chem ; 2(21): 3172-8, 2004 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-15505725

12.

Correspondence between molecular functionality and crystal structures. Supramolecular chemistry of a family of homologated aminophenols.

Vangala, Venu R; Bhogala, Balakrishna R; Dey, Archan; Desiraju, Gautam R; Broder, Charlotte K; Smith, Philip S; Mondal, Raju; Howard, Judith A K; Wilson, Chick C.

J Am Chem Soc ; 125(47): 14495-509, 2003 Nov 26.

Artigo em Inglês | MEDLINE | ID: mdl-14624599

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