Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 51 entries
Sorted by: Best Match Show Resources per page
Radical-polar crossover reactions of vinylboron ate complexes.

Science (New York, N.Y.)

Kischkewitz M, Okamoto K, Mück-Lichtenfeld C, Studer A.
PMID: 28254937
Science. 2017 Mar 03;355(6328):936-938. doi: 10.1126/science.aal3803.

Vinyl boronic esters are valuable substrates for Suzuki-Miyaura cross-coupling reactions. However, boron-substituted alkenes have drawn little attention as radical acceptors, and the radical chemistry of vinylboron ate complexes is underexplored. We show here that carbon radicals add efficiently to...

Germline whole exome sequencing and large-scale replication identifies .

Oncotarget

Dicks E, Song H, Ramus SJ, Oudenhove EV, Tyrer JP, Intermaggio MP, Kar S, Harrington P, Bowtell DD, Group AS, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Piskorz A, Goranova T, Kent E, Siddiqui N, Paul J, Crawford R, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Odunsi K, Whittemore AS, Bogdanova N, Dürst M, Hillemanns P, Karlan BY, Gentry-Maharaj A, Menon U, Tischkowitz M, Levine D, Brenton JD, Dörk T, Goode EL, Gayther SA, Pharoah DPP.
PMID: 28881617
Oncotarget. 2017 Mar 03;8(31):50930-50940. doi: 10.18632/oncotarget.15871. eCollection 2017 Aug 01.

We analyzed whole exome sequencing data in germline DNA from 412 high grade serous ovarian cancer (HGSOC) cases from The Cancer Genome Atlas Project and identified 5,517 genes harboring a predicted deleterious germline coding mutation in at least one...

Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma.

Oncogenesis

Murray MJ, Bailey S, Raby KL, Saini HK, de Kock L, Burke GA, Foulkes WD, Enright AJ, Coleman N, Tischkowitz M.
PMID: 24513630
Oncogenesis. 2014 Feb 10;3:e87. doi: 10.1038/oncsis.2014.1.

DICER1 is a critical gene in the biogenesis of mature microRNAs, short non-coding RNAs that derive from either -3p or -5p precursor microRNA strands. Germline mutations of DICER1 are associated with a range of human malignancies, including pleuropulmonary blastoma...

Synthesis of α-Chiral Ketones and Chiral Alkanes Using Radical Polar Crossover Reactions of Vinyl Boron Ate Complexes.

Angewandte Chemie (International ed. in English)

Gerleve C, Kischkewitz M, Studer A.
PMID: 29239507
Angew Chem Int Ed Engl. 2018 Feb 23;57(9):2441-2444. doi: 10.1002/anie.201711390. Epub 2018 Jan 16.

Vinyl boron ate complexes of enantioenriched secondary alkyl pinacolboronic esters undergo stereospecific radical-induced 1,2-migration in radical polar crossover reactions. In this three-component process various commercially available alkyl iodides act as radical precursors and light is used for chain initiation....

Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services.

Journal of medical genetics

Wedderburn S, Archer S, Tischkowitz M, Hanson H.
PMID: 33568439
J Med Genet. 2021 Aug;58(8):579-580. doi: 10.1136/jmedgenet-2020-107529. Epub 2021 Feb 10.

No abstract available.

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Genetics in medicine : official journal of the American College of Medical Genetics

Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C.
PMID: 34906457
Genet Med. 2021 Nov 19; doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 19.

PURPOSE: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas (PCC/PGL), is uncertain.METHODS: We compared the frequency of SDHB...

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Nature communications

Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC.
PMID: 33990587
Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4.

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C.
PMID: 34906453
Genet Med. 2021 Nov 18; doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18.

PURPOSE: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice.METHODS: We used...

UKCGG Consensus Group guidelines for the management of patients with constitutional .

Journal of medical genetics

Hanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG.
PMID: 32571901
J Med Genet. 2020 Jun 22; doi: 10.1136/jmedgenet-2020-106876. Epub 2020 Jun 22.

Constitutional pathogenic variants in

Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.

Journal of medical genetics

Lee A, Yang X, Tyrer J, Gentry-Maharaj A, Ryan A, Mavaddat N, Cunningham AP, Carver T, Archer S, Leslie G, Kalsi J, Gaba F, Manchanda R, Gayther S, Ramus SJ, Walter FM, Tischkowitz M, Jacobs I, Menon U, Easton DF, Pharoah P, Antoniou AC.
PMID: 34844974
J Med Genet. 2021 Nov 29; doi: 10.1136/jmedgenet-2021-107904. Epub 2021 Nov 29.

BACKGROUND: Epithelial tubo-ovarian cancer (EOC) has high mortality partly due to late diagnosis. Prevention is available but may be associated with adverse effects. A multifactorial risk model based on known genetic and epidemiological risk factors (RFs) for EOC can...

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.

Breast cancer research : BCR

Mavaddat N, Antoniou AC, Mooij TM, Hooning MJ, Heemskerk-Gerritsen BA, Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A, Barrowdale D, Frost D, Evans DG, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D, van Engelen K, Mourits MJE, Ausems MGEM, Koppert LB, Hopper JL, John EM, Chung WK, Andrulis IL, Daly MB, Buys SS, Benitez J, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Van Leeuwen FE, Arver B, Olsson H, Schmutzler RK, Engel C, Kast K, Phillips KA, Terry MB, Milne RL, Goldgar DE, Rookus MA, Andrieu N, Easton DF.
PMID: 32102695
Breast Cancer Res. 2020 Feb 26;22(1):25. doi: 10.1186/s13058-020-01259-w.

After publication of the original article [1], we were notified that columns in Table 2 were erroneously displayed.

Erratum: Publisher Correction: Homologous recombination DNA repair defects in .

NPJ breast cancer

Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L, Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS.
PMID: 31754629
NPJ Breast Cancer. 2019 Nov 19;5:44. doi: 10.1038/s41523-019-0140-8. eCollection 2019.

[This corrects the article DOI: 10.1038/s41523-019-0115-9.].

Showing 1 to 12 of 51 entries