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Items: 48

1.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD.

J Clin Invest. 2019 Dec 5. pii: 130206. doi: 10.1172/JCI130206. [Epub ahead of print]

2.

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.

Apellaniz-Ruiz M, Segni M, Kettwig M, Glüer S, Pelletier D, Nguyen VH, Wagener R, López C, Muchantef K, Bouron-Dal Soglio D, Sabbaghian N, Wu MK, Zannella S, Fabian MR, Siebert R, Menke J, Priest JR, Foulkes WD.

N Engl J Med. 2019 May 9;380(19):1834-1842. doi: 10.1056/NEJMoa1812169.

PMID:
31067372
3.

Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.

de Kock L, Hillmer M, Wagener R, Soglio DB, Sabbaghian N, Siebert R, Priest JR, Miller M, Foulkes WD.

Genes Chromosomes Cancer. 2019 Aug;58(8):602-604. doi: 10.1002/gcc.22728. Epub 2019 Jan 28. No abstract available.

PMID:
30597651
4.

Ovarian small cell carcinoma in one of a pair of monozygous twins.

Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.

Fam Cancer. 2019 Apr;18(2):161-163. doi: 10.1007/s10689-018-0108-0.

PMID:
30284660
5.

A novel DICER1 mutation in familial multinodular goitre.

Caimari F, Kumar AV, Kurzawinski T, Butler G, Sabbaghian N, Foulkes WD, Korbonits M.

Clin Endocrinol (Oxf). 2018 Jul;89(1):110-112. doi: 10.1111/cen.13613. Epub 2018 May 4. No abstract available.

PMID:
29633305
6.

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

Bouron-Dal Soglio D, de Kock L, Gauci R, Sabbaghian N, Thomas E, Atkinson HC, Pachter N, Ryan S, Walsh JP, Kumarasinghe MP, Carpenter K, Aydoğan A, Stewart CJR, Foulkes WD, Choong CS.

Eur Thyroid J. 2018 Jan;7(1):44-50. doi: 10.1159/000481620. Epub 2017 Nov 21.

7.

DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.

Wasserman JD, Sabbaghian N, Fahiminiya S, Chami R, Mete O, Acker M, Wu MK, Shlien A, de Kock L, Foulkes WD.

J Clin Endocrinol Metab. 2018 May 1;103(5):2009-2015. doi: 10.1210/jc.2017-02698. Erratum in: J Clin Endocrinol Metab. 2018 Aug 1;103(8):3114.

PMID:
29474644
8.

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

Sabbaghian N, Digilio MC, Blue GM, Revil T, Winlaw DS, Foulkes WD.

Congenit Heart Dis. 2018 May;13(3):401-406. doi: 10.1111/chd.12578. Epub 2018 Feb 5.

PMID:
29399970
9.

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.

de Kock L, Geoffrion D, Rivera B, Wagener R, Sabbaghian N, Bens S, Ellezam B, Bouron-Dal Soglio D, Ordóñez J, Sacharow S, Polo Nieto JF, Guillerman RP, Vujanic GM, Priest JR, Siebert R, Foulkes WD.

Genes Chromosomes Cancer. 2018 May;57(5):223-230. doi: 10.1002/gcc.22523. Epub 2018 Feb 10.

PMID:
29315962
10.

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.

Apellaniz-Ruiz M, de Kock L, Sabbaghian N, Guaraldi F, Ghizzoni L, Beccuti G, Foulkes WD.

Eur J Endocrinol. 2018 Feb;178(2):K11-K19. doi: 10.1530/EJE-17-0904. Epub 2017 Nov 29.

PMID:
29187512
11.

A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?

Saskin A, de Kock L, Sabbaghian N, Apellaniz-Ruiz M, Bozkurt C, Bouron-Dal Soglio D, Foulkes WD.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26715. Epub 2017 Aug 2.

PMID:
28766837
12.

Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.

de Kock L, Bah I, Revil T, Bérubé P, Wu MK, Sabbaghian N, Priest JR, Ragoussis J, Foulkes WD.

J Clin Endocrinol Metab. 2016 Oct;101(10):3637-3645. Epub 2016 Jul 26.

PMID:
27459524
13.

Functional characterization of multiple DICER1 mutations in an adolescent.

Wu MK, de Kock L, Conwell LS, Stewart CJ, King BR, Choong CS, Hussain K, Sabbaghian N, MacRae IJ, Fabian MR, Foulkes WD.

Endocr Relat Cancer. 2016 Feb;23(2):L1-5. doi: 10.1530/ERC-15-0460. Epub 2015 Nov 6. No abstract available.

PMID:
26545620
14.

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.

J Med Genet. 2016 Jan;53(1):43-52. doi: 10.1136/jmedgenet-2015-103428. Epub 2015 Oct 16.

PMID:
26475046
15.

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.

Hartley T, Cavallone L, Sabbaghian N, Silva-Smith R, Hamel N, Aleynikova O, Smith E, Hastings V, Pinto P, Tischkowitz M, Tomiak E, Foulkes WD.

Hered Cancer Clin Pract. 2014 Aug 28;12(1):19. doi: 10.1186/1897-4287-12-19. eCollection 2014.

16.

Germ-line and somatic DICER1 mutations in pineoblastoma.

de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD.

Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7. Epub 2014 Jul 15.

17.

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

de Kock L, Sabbaghian N, Plourde F, Srivastava A, Weber E, Bouron-Dal Soglio D, Hamel N, Choi JH, Park SH, Deal CL, Kelsey MM, Dishop MK, Esbenshade A, Kuttesch JF, Jacques TS, Perry A, Leichter H, Maeder P, Brundler MA, Warner J, Neal J, Zacharin M, Korbonits M, Cole T, Traunecker H, McLean TW, Rotondo F, Lepage P, Albrecht S, Horvath E, Kovacs K, Priest JR, Foulkes WD.

Acta Neuropathol. 2014 Jul;128(1):111-22. doi: 10.1007/s00401-014-1285-z. Epub 2014 May 20.

18.

Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma.

de Kock L, Sabbaghian N, Soglio DB, Guillerman RP, Park BK, Chami R, Deal CL, Priest JR, Foulkes WD.

J Clin Endocrinol Metab. 2014 Jun;99(6):E1072-7. doi: 10.1210/jc.2013-4206. Epub 2014 Mar 11.

PMID:
24617712
19.

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab), Giles GG, Hopper JL; Australian Breast Cancer Family Registry, Southey MC, Park DJ.

BMC Med Genomics. 2013 Nov 8;6:48. doi: 10.1186/1755-8794-6-48.

20.

Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.

Sabbaghian N, Srivastava A, Hamel N, Plourde F, Gajtko-Metera M, Niedziela M, Foulkes WD.

Eur J Hum Genet. 2014 Apr;22(4):564-7. doi: 10.1038/ejhg.2013.215. Epub 2013 Sep 25.

21.

Biallelic DICER1 mutations occur in Wilms tumours.

Wu MK, Sabbaghian N, Xu B, Addidou-Kalucki S, Bernard C, Zou D, Reeve AE, Eccles MR, Cole C, Choong CS, Charles A, Tan TY, Iglesias DM, Goodyer PR, Foulkes WD.

J Pathol. 2013 Jun;230(2):154-64. doi: 10.1002/path.4196.

22.

Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

Sabbaghian N, Bahubeshi A, Shuen AY, Kanetsky PA, Tischkowitz MD, Nathanson KL, Foulkes WD.

BMC Res Notes. 2013 Apr 1;6:127. doi: 10.1186/1756-0500-6-127.

23.

Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.

Wark L, Novak D, Sabbaghian N, Amrein L, Jangamreddy JR, Cheang M, Pouchet C, Aloyz R, Foulkes WD, Mai S, Tischkowitz M.

Genes Chromosomes Cancer. 2013 May;52(5):480-94. doi: 10.1002/gcc.22045. Epub 2013 Jan 23.

PMID:
23341105
24.

Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.

Tischkowitz M, Sabbaghian N, Hamel N, Pouchet C, Foulkes WD, Mes-Masson AM, Provencher DM, Tonin PN.

BMC Med Genet. 2013 Jan 9;14:5. doi: 10.1186/1471-2350-14-5.

25.

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases.

Bakker JL, van Mil SE, Crossan G, Sabbaghian N, De Leeneer K, Poppe B, Adank M, Gille H, Verheul H, Meijers-Heijboer H, de Winter JP, Claes K, Tischkowitz M, Waisfisz Q.

Hum Mutat. 2013 Jan;34(1):70-3. doi: 10.1002/humu.22206. Epub 2012 Oct 11.

PMID:
22911665
26.

Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma.

Sabbaghian N, Hamel N, Srivastava A, Albrecht S, Priest JR, Foulkes WD.

J Med Genet. 2012 Jul;49(7):417-9. doi: 10.1136/jmedgenet-2012-100898. Epub 2012 Jun 20. No abstract available.

PMID:
22717647
27.

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K.

Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28.

PMID:
22370629
28.

Rare germline mutations in PALB2 and breast cancer risk: a population-based study.

Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L; WECARE Study Collaborative Group, Bernstein JL, Begg CB.

Hum Mutat. 2012 Apr;33(4):674-80. doi: 10.1002/humu.22022. Epub 2012 Feb 15.

29.

Extending the phenotypes associated with DICER1 mutations.

Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR.

Hum Mutat. 2011 Dec;32(12):1381-4. doi: 10.1002/humu.21600. Epub 2011 Oct 11.

PMID:
21882293
30.

Germline PALB2 mutation analysis in breast-pancreas cancer families.

Stadler ZK, Salo-Mullen E, Sabbaghian N, Simon JA, Zhang L, Olson SH, Kurtz R, Offit K, Foulkes WD, Robson ME, Tischkowitz M.

J Med Genet. 2011 Aug;48(8):523-5. doi: 10.1136/jmg.2010.087379. Epub 2011 Mar 17.

PMID:
21415078
31.

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M.

JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910.

32.

A PALB2 mutation associated with high risk of breast cancer.

Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, Tischkowitz M, Sabbaghian N, Apicella C, Byrnes GB, Winship I, Baglietto L, Giles GG, Goldgar DE, Foulkes WD, Hopper JL; kConFab for the Beast Cancer Family Registry.

Breast Cancer Res. 2010;12(6):R109. doi: 10.1186/bcr2796. Epub 2010 Dec 23.

33.

Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma.

Sabbaghian N, Kyle R, Hao A, Hogg D, Tischkowitz M.

Fam Cancer. 2011 Jun;10(2):315-7. doi: 10.1007/s10689-010-9405-y.

PMID:
21153565
34.

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR.

Breast Cancer Res Treat. 2011 Jun;127(3):671-9. doi: 10.1007/s10549-010-1036-3. Epub 2010 Jul 22.

35.

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.

Tischkowitz MD, Sabbaghian N, Hamel N, Borgida A, Rosner C, Taherian N, Srivastava A, Holter S, Rothenmund H, Ghadirian P, Foulkes WD, Gallinger S.

Gastroenterology. 2009 Sep;137(3):1183-6. doi: 10.1053/j.gastro.2009.06.055. Epub 2009 Jul 25. No abstract available.

36.

Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.

Novak DJ, Sabbaghian N, Maillet P, Chappuis PO, Foulkes WD, Tischkowitz M.

Breast Cancer Res Treat. 2009 Sep;117(2):453-9. doi: 10.1007/s10549-008-0134-y. Epub 2008 Aug 10.

PMID:
18695986
37.

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.

Tischkowitz M, Sabbaghian N, Ray AM, Lange EM, Foulkes WD, Cooney KA.

Prostate. 2008 May 1;68(6):675-8. doi: 10.1002/pros.20729.

38.

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, Darnel A, Royer R, Poll A, Fafard E, Robidoux A, Martin G, Bismar TA, Tischkowitz M, Rousseau F, Narod SA.

Breast Cancer Res. 2007;9(6):R83.

39.

Analysis of PALB2/FANCN-associated breast cancer families.

Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD.

Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6788-93. Epub 2007 Apr 9.

40.

Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.

Morin I, Devlin AM, Leclerc D, Sabbaghian N, Halsted CH, Finnell R, Rozen R.

Mol Genet Metab. 2003 Jul;79(3):197-200.

PMID:
12855225
41.

Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida.

Morin I, Platt R, Weisberg I, Sabbaghian N, Wu Q, Garrow TA, Rozen R.

Am J Med Genet A. 2003 Jun 1;119A(2):172-6.

PMID:
12749058
42.
43.

Antisense inhibition of methylenetetrahydrofolate reductase reduces survival of methionine-dependent tumour lines.

Sekhon J, Pereira P, Sabbaghian N, Schievella AR, Rozen R.

Br J Cancer. 2002 Jul 15;87(2):225-30.

44.

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.

Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R.

Am J Med Genet. 1999 May 21;84(2):151-7.

PMID:
10323741
45.

Characterization of normal and point-mutated human androgen receptors expressed in the baculovirus system.

Beitel LK, Sabbaghian N, Alarifi A, Alvarado C, Pinsky L, Trifiro M.

J Mol Endocrinol. 1995 Oct;15(2):117-28.

PMID:
8800637
46.

Kinetic evidence for a unique testosterone-receptor complex in 5 alpha-reductase sufficient genital skin fibroblasts and the effects of 5 alpha-reductase deficiency on its formation.

Kaufman M, Pinsky L, Trifiro M, Lumbroso R, Sabbaghian N, Gottlieb B.

J Steroid Biochem Mol Biol. 1993 Jun;45(6):467-76.

PMID:
8518203
47.

Androgen resistance due to mutation of the androgen receptor.

Pinsky L, Trifiro M, Kaufman M, Beitel LK, Mhatre A, Kazemi-Esfarjani P, Sabbaghian N, Lumbroso R, Alvarado C, Vasiliou M, et al.

Clin Invest Med. 1992 Oct;15(5):456-72. Review.

PMID:
1458719
48.

Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.

Trifiro M, Prior RL, Sabbaghian N, Pinsky L, Kaufman M, Nylen EG, Belsham DD, Greenberg CR, Wrogemann K.

Am J Med Genet. 1991 Sep 15;40(4):493-9.

PMID:
1720929

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