Publications by authors named "Karine Hovanes"

22Publications

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Authors:
Angelika J Dawson Karine Hovanes Jing Liu Sandra Marles Cheryl Greenberg Aziz Mhanni Albert Chudley Patrick Frosk Trilochan Sahoo Denny Schanze Martin Zenker

Clin Dysmorphol 2020 Oct 7. Epub 2020 Oct 7.

Institute of Human Genetics, University Hospital Magdeburg Leipziger Str. 44 39120 Magdeburg Germany.

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October 2020

Correction: Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.

Authors:
Yassemine Khawajkie Nawel Mechtouf Ngoc Minh Phuong Nguyen Kurosh Rahimi Magali Breguet Jocelyne Arseneau Brigitte M Ronnett Lori Hoffner Felicia Lazure Marjolaine Arnaud Fabrice Peers Liane Tan Basam Abu Rafea Monica Aguinaga Neil S Horowitz Asangla Ao Seang Lin Tan Richard Brown William Buckett Urvashi Surti Karine Hovanes Trilochan Sahoo Philippe Sauthier Rima Slim

Mod Pathol 2020 06;33(6):1237

Division of Experimental Medicine, McGill University, Montreal, QC, Canada.

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June 2020

Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.

Authors:
Yassemine Khawajkie Nawel Mechtouf Ngoc Minh Phuong Nguyen Kurosh Rahimi Magali Breguet Jocelyne Arseneau Brigitte M Ronnett Lori Hoffner Felicia Lazure Marjolaine Arnaud Fabrice Peers Liane Tan Basam Abu Rafea Monica Aguinaga Neil S Horowitz Asangla Ao Seang Lin Tan Richard Brown William Buckett Urvashi Surti Karine Hovanes Trilochan Sahoo Philippe Sauthier Rima Slim

Mod Pathol 2020 05 19;33(5):880-892. Epub 2019 Dec 19.

Division of Experimental Medicine, McGill University, Montreal, QC, Canada.

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May 2020

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

Authors:
Ngoc Minh Phuong Nguyen Zhao-Jia Ge Ramesh Reddy Somayyeh Fahiminiya Philippe Sauthier Rashmi Bagga Feride Iffet Sahin Sangeetha Mahadevan Matthew Osmond Magali Breguet Kurosh Rahimi Louise Lapensee Karine Hovanes Radhika Srinivasan Ignatia B Van den Veyver Trilochan Sahoo Asangla Ao Jacek Majewski Teruko Taketo Rima Slim

Am J Hum Genet 2018 11;103(5):740-751

Department of Human Genetics, McGill University Health Centre, Montréal, QC H4A 3J1, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre, Montréal, QC H4A 3J1, Canada. Electronic address:

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November 2018

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.

Authors:
Andrew M Gross Subramanian S Ajay Vani Rajan Carolyn Brown Krista Bluske Nicole J Burns Aditi Chawla Alison J Coffey Alka Malhotra Alicia Scocchia Erin Thorpe Natasa Dzidic Karine Hovanes Trilochan Sahoo Egor Dolzhenko Bryan Lajoie Amirah Khouzam Shimul Chowdhury John Belmont Eric Roller Sergii Ivakhno Stephen Tanner Julia McEachern Tina Hambuch Michael Eberle R Tanner Hagelstrom David R Bentley Denise L Perry Ryan J Taft

Genet Med 2019 05 8;21(5):1121-1130. Epub 2018 Oct 8.

Illumina Inc., San Diego, CA, USA.

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May 2019

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Authors:
Ngoc Minh Phuong Nguyen Yassemine Khawajkie Nawel Mechtouf Maryam Rezaei Magali Breguet Elvira Kurvinen Sujatha Jagadeesh Asli Ece Solmaz Monica Aguinaga Reda Hemida Mehmet Ibrahim Harma Cécile Rittore Kurosh Rahimi Jocelyne Arseneau Karine Hovanes Ronald Clisham Tiffanee Lenzi Bonnie Scurry Marie-Claude Addor Rashmi Bagga Genevieve Girardet Nendaz Vildana Finci Gemma Poke Leslie Grimes Nerine Gregersen Kayla York Pierre-Adrien Bolze Chirag Patel Hossein Mozdarani Jacques Puechberty Jessica Scotchie Majid Fardaei Muge Harma R J McKinlay Gardner Trilochan Sahoo Tracy Dudding-Byth Radhika Srinivasan Philippe Sauthier Rima Slim

Mod Pathol 2018 07 20;31(7):1116-1130. Epub 2018 Feb 20.

Departments of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada.

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July 2018

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

Authors:
Sara B Hay Trilochan Sahoo Mary K Travis Karine Hovanes Natasa Dzidic Charles Doherty Michelle N Strecker

Prenat Diagn 2018 02 6;38(3):184-189. Epub 2018 Feb 6.

CombiMatrix, Invitae Corporation, Irvine, CA, USA.

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February 2018

Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.

Authors:
Trilochan Sahoo Natasa Dzidic Michelle N Strecker Sara Commander Mary K Travis Charles Doherty R Weslie Tyson Arturo E Mendoza Mary Stephenson Craig A Dise Carlos W Benito Mandolin S Ziadie Karine Hovanes

Genet Med 2017 01 23;19(1):83-89. Epub 2016 Jun 23.

CombiMatrix Diagnostics, Irvine, California, USA.

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January 2017

Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern?

Authors:
Trilochan Sahoo Karine Hovanes Michelle N Strecker Natasa Dzidic Sara Commander Mary K Travis

Genet Med 2016 Mar 21;18(3):275-6. Epub 2016 Jan 21.

Combimatrix Molecular Diagnostics, Irvine, California, USA.

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March 2016

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.

Authors:
Angelika J Dawson Janice Cox Karine Hovanes Elizabeth Spriggs

Case Rep Genet 2015 7;2015:474097. Epub 2015 May 7.

Departments of Biochemistry & Medical Genetics and Pediatrics & Child Health, University of Manitoba, Winnipeg, MB, Canada R3E 0J9 ; Genetics & Metabolism Program, WRHA, Winnipeg, MB, Canada R3A 1R9 ; Molecular Diagnostic Laboratory, HSC, Diagnostic Services of Manitoba, 820 Sherbrook Street, Winnipeg, MB, Canada R3A 1K9.

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June 2015

Chromosome microarray and undiagnosed seizures in a pediatric patient.

Authors:
Angelika J Dawson Aizeddin A Mhanni Frances A Booth Lorne Seargeant Daniele Bernier Michelle Tomiuk Jessica N Hartley Michelle Strecker Karine Hovanes

Can J Neurol Sci 2014 Mar;41(2):281-3

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March 2014

Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.

Authors:
Majed Dasouki Jennifer Roberts Angela Santiago Irfan Saadi Karine Hovanes

Eur J Med Genet 2014 Feb 22;57(2-3):76-80. Epub 2014 Jan 22.

CombiMatrix Diagnostics, Irvine, CA, USA.

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February 2014

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

Authors:
Jennifer L Roberts Karine Hovanes Majed Dasouki Ann M Manzardo Merlin G Butler

Gene 2014 Feb 2;535(1):70-8. Epub 2013 Nov 2.

Departments of Psychiatry, Behavioral Sciences and Pediatrics, The University of Kansas, Medical Center, Kansas City, KS, USA. Electronic address:

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February 2014

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.

Authors:
Elvera Sofos Matthew F Pescosolido Jose B Quintos Dianne Abuelo Shelly Gunn Karine Hovanes Eric M Morrow Natasha Shur

Am J Med Genet A 2012 Jan 3;158A(1):50-8. Epub 2011 Nov 3.

Alpert Medical School of Brown University, Providence, Rhode Island, USA.

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January 2012

Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.

Authors:
Majed J Dasouki Erin L Youngs Karine Hovanes

Curr Genomics 2011 May;12(3):190-203

Departments of Pediatrics and Internal Medicine, Kansas University Medical Center, Kansas City, Kansas, USA.

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May 2011

Inversion and deletion of 16q22 defined by array CGH, FISH, and RT-PCR in a patient with AML.

Authors:
Angelika J Dawson Shibani Bal Barry McTavish Michelle Tomiuk Ingo Schroedter Arshad N Ahsanuddin Matthew D Seftel Rhea Vallente Sabine Mai Philip D Cotter Karine Hovanes Mercedes Gorre Shelly R Gunn

Cancer Genet 2011 Jun;204(6):344-7

Cytogenetic Laboratory, Diagnostic Services of Manitoba, Health Sciences Centre, Winnipeg, Canada.

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June 2011

The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.

Authors:
Majed J Dasouki Gerald H Lushington Karine Hovanes James Casey Mereceds Gorre

Am J Med Genet A 2011 Jul 27;155A(7):1654-60. Epub 2011 May 27.

Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA.

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July 2011

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.

Authors:
Elizabeth A Parker Karine Hovanes John Germak Forbes Porter Deborah P Merke

Am J Med Genet A 2006 Oct;140(20):2236-40

National Institutes of Health, Developmental Endocrinology Branch, NICHD, Bethesda, Maryland, USA.

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October 2006

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.

Authors:
Judith L Ross Karen Kowal Charmian A Quigley Werner F Blum Gordon B Cutler Brenda Crowe Karine Hovanes Frederick F Elder Andrew R Zinn

J Pediatr 2005 Oct;147(4):499-507

Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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October 2005

Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS.

Authors:
Anna Kiialainen Karine Hovanes Juha Paloneva Outi Kopra Leena Peltonen

Neurobiol Dis 2005 Mar;18(2):314-22

Department of Molecular Medicine, National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00290 Helsinki, Finland.

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March 2005

A new beta-catenin-dependent activation domain in T cell factor.

Authors:
Fawzia A Atcha Jesus E Munguia Tony W H Li Karine Hovanes Marian L Waterman

J Biol Chem 2003 May 11;278(18):16169-75. Epub 2003 Feb 11.

Microbiology and Molecular Genetics Department, School of Medicine, University of California, Irvine, CA 92697-4025, USA.

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May 2003

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

Authors:
Juha Paloneva Tuula Manninen Grant Christman Karine Hovanes Jami Mandelin Rolf Adolfsson Marino Bianchin Thomas Bird Roxana Miranda Andrea Salmaggi Lisbeth Tranebjaerg Yrjö Konttinen Leena Peltonen

Am J Hum Genet 2002 Sep 21;71(3):656-62. Epub 2002 Jun 21.

Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland.

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September 2002