Nelly Sabbaghian

Nelly Sabbaghian

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Nelly Sabbaghian

Nelly Sabbaghian

Publications by authors named "Nelly Sabbaghian"

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

Genes Chromosomes Cancer 2019 08 28;58(8):602-604. Epub 2019 Jan 28.

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/gcc.22728DOI Listing
August 2019

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.

N Engl J Med 2019 05;380(19):1834-1842

From the Departments of Human Genetics (M.A.-R., M.K.W., W.D.F.), Pharmacology (D.P.), Oncology (M.R.F., W.D.F.), and Biochemistry (M.R.F.), and the Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital (M.A.-R., D.P., N.S., M.K.W., M.R.F., W.D.F.), McGill University, the Department of Pathology, Montreal Children's Hospital (V.-H.N.), the Department of Radiology (K.M.), and the Cancer Research Program, Research Institute (W.D.F.), McGill University Health Centre, and the Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine (D.B.-D.S.) - all in Montreal; the Department of Pediatrics, Endocrinology Unit, Sapienza University, Rome (M.S.), and Centro Diagnostico Italiano, Milan (S.Z.) - both in Italy; the Department of Pediatrics and Adolescent Medicine, Faculty of Medicine (M.K.), and the Institute for Diagnostic and Interventional Radiology, Faculty of Medicine (J.M.), Georg-August University, Göttingen, the Department of Pediatric Surgery, St. Bernward Krankenhaus Hildesheim, Hildesheim (S.G.), and the Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm (R.W., C.L., R.S.) - all in Germany; and Minneapolis (J.R.P.).

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http://www.nejm.org/doi/10.1056/NEJMoa1812169
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http://dx.doi.org/10.1056/NEJMoa1812169DOI Listing
May 2019

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

Fam Cancer 2019 04;18(2):161-163

Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s10689-018-0108-0DOI Listing
April 2019

A novel DICER1 mutation in familial multinodular goitre.

Clin Endocrinol (Oxf) 2018 07 4;89(1):110-112. Epub 2018 May 4.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1111/cen.13613DOI Listing
July 2018

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

Congenit Heart Dis 2018 May 5;13(3):401-406. Epub 2018 Feb 5.

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1111/chd.12578DOI Listing
May 2018

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

J Clin Endocrinol Metab 2018 05;103(5):2009-2015

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1210/jc.2017-02698DOI Listing
May 2018

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

Eur J Endocrinol 2018 Feb 29;178(2):K11-K19. Epub 2017 Nov 29.

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.

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http://dx.doi.org/10.1530/EJE-17-0904DOI Listing
February 2018

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

Pediatr Blood Cancer 2018 Jan 2;65(1). Epub 2017 Aug 2.

Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/pbc.26715DOI Listing
January 2018

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

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

Departments of Human Genetics (L.d.K., M.K.W., W.D.F.), Pathology (I.B.), Oncology (W.D.F.), McGill University; Department of Medical Genetics, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital (L.d.K., M.K.W., N.S., W.D.F.); Research Institute of the McGill University Health Centre (L.d.K., W.D.F.); McGill University and Genome Québec Innovation Centre (T.R., P.B., J.R.), Montréal, Québec, Canada; and (J.R.P.), Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1210/jc.2016-1328DOI Listing
October 2016

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.

J Med Genet 2016 Jan 16;53(1):43-52. Epub 2015 Oct 16.

Department of Human Genetics, McGill University, Montréal, Québec, Canada Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103428DOI Listing
January 2016

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

Hered Cancer Clin Pract 2014 28;12(1):19. Epub 2014 Aug 28.

Program in Cancer Genetics, Departments of Oncology and Human Genetics, Gerald Bronfman Centre for Clinical Research in Oncology, McGill University, Montreal, QC, Canada ; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, QC, Canada ; Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.1186/1897-4287-12-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4163678PMC
September 2014

Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma.

J Clin Endocrinol Metab 2014 Jun 11;99(6):E1072-7. Epub 2014 Mar 11.

Department of Human Genetics (L.d.K.) and Program in Cancer Genetics, Department of Oncology and Human Genetics (W.D.F.), McGill University, Montreal, Quebec H2W 1S6, Canada; Lady Davis Institute (L.d.K., N.S.), Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec H3T 1E2, Canada; Department of Pathology (D.B.-D.S., R.C.) and Endocrine Service (C.L.D.), CHU-Sainte Justine and University of Montreal, Montreal, Quebec H3T 1C5, Canada; Department of Pediatric Radiology (R.P.G.), Baylor College of Medicine, Texas Children's Hospital, Houston, Texas 77030; Center for Pediatric Oncology (B.-K.P.), National Cancer Center, Goyang-si, South Korea 410-769; and (J.R.P.) Minneapolis, Minnesota 55454.

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http://dx.doi.org/10.1210/jc.2013-4206DOI Listing
June 2014

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

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

1] Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada [2] Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada [3] The Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953921PMC
April 2014

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

Genes Chromosomes Cancer 2013 May 23;52(5):480-94. Epub 2013 Jan 23.

The Genomic Centre for Cancer Research and Diagnosis, Manitoba Institute of Cell Biology, CancerCare Manitoba, University of Manitoba, Winnipeg, MB, Canada.

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http://doi.wiley.com/10.1002/gcc.22045
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http://dx.doi.org/10.1002/gcc.22045DOI Listing
May 2013

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

BMC Res Notes 2013 Apr 1;6:127. Epub 2013 Apr 1.

Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1186/1756-0500-6-127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642033PMC
April 2013

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

J Med Genet 2012 Jul 20;49(7):417-9. Epub 2012 Jun 20.

Program in Cancer Genetics, Department of Oncology and Human Genetics, Gerald Bronfman Centre for Clinical Research in Cancer, McGill University 546 Pine Avenue West, Montreal, Quebec H2W 1S6, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2012-100898DOI Listing
July 2012

Germline PALB2 mutation analysis in breast-pancreas cancer families.

J Med Genet 2011 Aug 17;48(8):523-5. Epub 2011 Mar 17.

Clinical Genetics and Gastroenterology Services, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.

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http://dx.doi.org/10.1136/jmg.2010.087379DOI Listing
August 2011

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

Breast Cancer Res Treat 2011 Jun 22;127(3):671-9. Epub 2010 Jul 22.

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto 4200-072, Portugal.

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http://dx.doi.org/10.1007/s10549-010-1036-3DOI Listing
June 2011

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

Breast Cancer Res Treat 2009 Sep 10;117(2):453-9. Epub 2008 Aug 10.

Departments of Oncology and Human Genetics, Program in Cancer Genetics, McGill University, Montreal, QC, Canada H2W 1S6.

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http://link.springer.com/10.1007/s10549-008-0134-y
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http://dx.doi.org/10.1007/s10549-008-0134-yDOI Listing
September 2009

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

Prostate 2008 May;68(6):675-8

Program in Cancer Genetics, Department of Oncology, McGill University, Montréal, QC, Canada.

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http://dx.doi.org/10.1002/pros.20729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683627PMC
May 2008

Analysis of PALB2/FANCN-associated breast cancer families.

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

Program in Cancer Genetics, Departments of Oncology and Human Genetics and Departments of Medicine and Human Genetics, McGill University, Montréal, QC, Canada.

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http://dx.doi.org/10.1073/pnas.0701724104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1871863PMC
April 2007

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

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

Departments of Pediatrics and Human Genetics, McGill University, Montreal Children's Hospital Research Institute, 4060 Ste Catherine West, Room 200, Montreal, Canada H3Z 2Z3.

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July 2003

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

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

Department of Pediatrics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20115DOI Listing
June 2003