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671 results

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Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.
Hebert R, Cullinan N, Armstrong L, Blood KA, Brossard J, Brunga L, Cacciotti C, Caswell K, Cellot S, Coltin H, Deyell RJ, Felton K, Fernandez CV, Fleming AJ, Gibson P, Hammad R, Jabado N, Johnston DL, Lafay-Cousin L, Larouche V, Leblanc-Desrochers C, Michaeli O, Perrier R, Pike M, Say J, Schiller I, Toupin AK, Vairy S, van Engelen K, Waespe N, Villani A, Foulkes WD, Malkin D, Reichman L, Goudie C. Hebert R, et al. Among authors: foulkes wd. J Med Genet. 2023 Nov 27;60(12):1218-1223. doi: 10.1136/jmg-2023-109376. J Med Genet. 2023. PMID: 37460202
Germline DICER1 mutations and familial cystic nephroma.
Bahubeshi A, Bal N, Rio Frio T, Hamel N, Pouchet C, Yilmaz A, Bouron-Dal Soglio D, Williams GM, Tischkowitz M, Priest JR, Foulkes WD. Bahubeshi A, et al. Among authors: foulkes wd. J Med Genet. 2010 Dec;47(12):863-6. doi: 10.1136/jmg.2010.081216. Epub 2010 Oct 29. J Med Genet. 2010. PMID: 21036787
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD. Li L, et al. Among authors: foulkes wd. J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17. J Med Genet. 2015. PMID: 25691505
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.
de Kock L, Druker H, Weber E, Hamel N, Traubici J, Malkin D, Arseneau J, Stewart CJ, Bouron-Dal Soglio D, Priest JR, Foulkes WD. de Kock L, et al. Among authors: foulkes wd. Hum Pathol. 2015 Jun;46(6):917-22. doi: 10.1016/j.humpath.2015.02.008. Epub 2015 Mar 5. Hum Pathol. 2015. PMID: 25836323
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock L, Wang YC, Revil T, Badescu D, Rivera B, Sabbaghian N, Wu M, Weber E, Sandoval C, Hopman SM, Merks JH, van Hagen JM, Bouts AH, Plager DA, Ramasubramanian A, Forsmark L, Doyle KL, Toler T, Callahan J, Engelenberg C, Bouron-Dal Soglio D, Priest JR, Ragoussis J, Foulkes WD. de Kock L, et al. Among authors: foulkes wd. J Med Genet. 2016 Jan;53(1):43-52. doi: 10.1136/jmedgenet-2015-103428. Epub 2015 Oct 16. J Med Genet. 2016. PMID: 26475046
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.
Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M, Johann P, Kool M, Lee RS, Gayden T, Roberts CW, Biegel JA, Jabado N, Majewski J, Foulkes WD. Fahiminiya S, et al. Among authors: foulkes wd. Oncotarget. 2016 Jan 12;7(2):1732-40. doi: 10.18632/oncotarget.6459. Oncotarget. 2016. PMID: 26646792 Free PMC article.
Risky business: getting a grip on BRIP.
Sopik V, Foulkes WD. Sopik V, et al. Among authors: foulkes wd. J Med Genet. 2016 May;53(5):296-7. doi: 10.1136/jmedgenet-2015-103648. Epub 2016 Feb 26. J Med Genet. 2016. PMID: 26921361 No abstract available.
Somatic DICER1 mutations in adult-onset pulmonary blastoma.
de Kock L, Bah I, Brunet J, Druker H, Astigarraga I, Bosch-Barrera J, Soglio DB, Nguyen VH, Malkin D, Priest JR, Foulkes WD. de Kock L, et al. Among authors: foulkes wd. Eur Respir J. 2016 Jun;47(6):1879-82. doi: 10.1183/13993003.00172-2016. Epub 2016 Apr 28. Eur Respir J. 2016. PMID: 27126690 Free article. No abstract available.
671 results