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Results: 1 to 20 of 5390

1.

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.

Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD.

Eur J Paediatr Neurol. 2015 Apr 10. pii: S1090-3798(15)00073-2. doi: 10.1016/j.ejpn.2015.03.010. [Epub ahead of print]

PMID:
25920948
2.

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E.

J Inherit Metab Dis. 2015 Apr 28. [Epub ahead of print]

PMID:
25917789
3.

A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients.

Snowsill T, Huxley N, Hoyle M, Jones-Hughes T, Coelho H, Cooper C, Frayling I, Hyde C.

BMC Cancer. 2015 Apr 25;15(1):313. [Epub ahead of print]

4.

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.

Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL.

J Med Genet. 2015 Apr 23. pii: jmedgenet-2015-103076. doi: 10.1136/jmedgenet-2015-103076. [Epub ahead of print]

PMID:
25908759
5.

EMAST Is Associated with a Poor Prognosis in Microsatellite Instable Metastatic Colorectal Cancer.

Venderbosch S, van Lent-van Vliet S, de Haan AF, Ligtenberg MJ, Goossens M, Punt CJ, Koopman M, Nagtegaal ID.

PLoS One. 2015 Apr 17;10(4):e0124538. doi: 10.1371/journal.pone.0124538. eCollection 2015.

6.

Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.

Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, Bouffet E, Gallinger S, Pollett A, Campbell B, Tabori U; International BMMRD Consortium.

Eur J Cancer. 2015 May;51(8):977-983. doi: 10.1016/j.ejca.2015.02.008. Epub 2015 Apr 13. Review.

PMID:
25883011
7.

Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators.

Schneider JL, Davis J, Kauffman TL, Reiss JA, McGinley C, Arnold K, Zepp J, Gilmore M, Muessig KR, Syngal S, Acheson L, Wiesner GL, Peterson SK, Goddard KA.

Genet Med. 2015 Apr 16. doi: 10.1038/gim.2015.43. [Epub ahead of print]

PMID:
25880440
8.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.

Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T.

Eur J Hum Genet. 2015 Apr 15. doi: 10.1038/ejhg.2015.72. [Epub ahead of print]

PMID:
25873010
9.
10.

Novel quality indicators for metastatic colorectal cancer management identify significant variations in these measures across treatment centers in Australia.

Turner NH, Wong HL, Field K, Wong R, Shapiro J, Yip D, Nott L, Tie J, Kosmider S, Tran B, Desai J, McKendrick J, Zimet A, Richardson G, Iddawela M, Gibbs P.

Asia Pac J Clin Oncol. 2015 Apr 14. doi: 10.1111/ajco.12355. [Epub ahead of print]

PMID:
25871458
11.

Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization.

van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group.

Hum Mutat. 2015 Apr 13. doi: 10.1002/humu.22798. [Epub ahead of print]

PMID:
25871441
12.

Clinical and pathological characterization of endometrial cancer in young women: Identification of a cohort without classical risk factors.

Burleigh A, Talhouk A, Gilks CB, McAlpine JN.

Gynecol Oncol. 2015 Apr 12. pii: S0090-8258(15)00793-3. doi: 10.1016/j.ygyno.2015.02.028. [Epub ahead of print]

PMID:
25870916
13.

Excision of translesion synthesis errors orchestrates responses to helix-distorting DNA lesions.

Tsaalbi-Shtylik A, Ferrás C, Pauw B, Hendriks G, Temviriyanukul P, Carlée L, Calléja F, van Hees S, Akagi J, Iwai S, Hanaoka F, Jansen JG, de Wind N.

J Cell Biol. 2015 Apr 13;209(1):33-46. doi: 10.1083/jcb.201408017.

PMID:
25869665
14.

Gastroenterology: Video capsule endoscopy disclosure of unprecedented therapeutic effect of Eviendep on small bowel polyposis in Lynch syndrome.

Bringiotti R, Ierardi E, De Tullio N, Fracella MR, Brindicci D, Marmo R, Albano F, Papagni S, Di Leo A, Principi M.

J Gastroenterol Hepatol. 2015 May;30(5):801. doi: 10.1111/jgh.12912. No abstract available.

PMID:
25865861
15.

PMS2 monoallelic mutation carriers: the known unknown.

Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM.

Genet Med. 2015 Apr 9. doi: 10.1038/gim.2015.27. [Epub ahead of print] Review.

PMID:
25856668
16.

Variation in lynch syndrome.

Church J, Kravochuck S.

Dis Colon Rectum. 2015 May;58(5):e77. doi: 10.1097/DCR.0000000000000355. No abstract available.

PMID:
25850851
17.

An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.

Daou B, Zanello M, Varlet P, Brugieres L, Jabbour P, Caron O, Lavoine N, Dhermain F, Willekens C, Beuvon F, Malka D, Lechapt-Zalcmann E, Abi Lahoud G.

Neurosurgery. 2015 Apr 4. [Epub ahead of print]

PMID:
25850602
18.

Renal Autotransplantation in Lynch Syndrome: A Viable Option in a Patient With Contralateral Metachronous Ureteral Cancer.

Woods T, Jennings NB, Fernandez HT, Onaca N, Carlile BK, Levy MF, Gould DL, Ruiz R.

Am J Transplant. 2015 Apr 6. doi: 10.1111/ajt.13279. [Epub ahead of print]

PMID:
25847116
19.

Electronic Imaging to Enhance Lesion Detection at Colonoscopy.

Ket SN, Bird-Lieberman E, East JE.

Gastrointest Endosc Clin N Am. 2015 Apr;25(2):227-242. doi: 10.1016/j.giec.2014.11.011. Epub 2015 Feb 26. Review.

PMID:
25839684
20.

Simultaneous primary cancers: Atypical Lynch syndrome?

Medina-Franco H, Pimienta-Ibarra AS, Pastor-Sifuentes FU, Ramírez-Luna MÁ.

Rev Gastroenterol Mex. 2015 Mar 27. pii: S0375-0906(15)00022-1. doi: 10.1016/j.rgmx.2014.11.003. [Epub ahead of print] English, Spanish. No abstract available.

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