Publications by authors named "Yael Goldberg"

62Publications

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.

JCI Insight 2020 Sep 17;5(18). Epub 2020 Sep 17.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1172/jci.insight.140698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526538PMC
September 2020

The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.

Clin Genet 2020 02 4;97(2):296-304. Epub 2019 Dec 4.

The Rina Zaizov Hematology-Oncology Division, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1111/cge.13656DOI Listing
February 2020

The added benefit of transvaginal sonography in the clinical staging of cervical carcinoma.

Acta Obstet Gynecol Scand 2020 03 14;99(3):312-316. Epub 2019 Nov 14.

Department of Obstetrics and Gynecology, Carmel Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1111/aogs.13750DOI Listing
March 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

Hum Genet 2019 Oct 18;138(10):1145-1153. Epub 2019 Jul 18.

Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.

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http://dx.doi.org/10.1007/s00439-019-02048-yDOI Listing
October 2019

Update on genetic predisposition to colorectal cancer and polyposis.

Mol Aspects Med 2019 10 18;69:10-26. Epub 2019 Mar 18.

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mam.2019.03.001DOI Listing
October 2019

Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program.

Dig Liver Dis 2019 02 18;51(2):242-246. Epub 2018 Aug 18.

Gastroenterology Department, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.dld.2018.08.010DOI Listing
February 2019

Aggression and Agitation in Dementia.

Continuum (Minneap Minn) 2018 06;24(3, BEHAVIORAL NEUROLOGY AND PSYCHIATRY):783-803

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http://dx.doi.org/10.1212/CON.0000000000000605DOI Listing
June 2018

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature.

J Perinatol 2018 05 6;38(5):468-473. Epub 2018 Feb 6.

Genetics Institute, Carmel Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1038/s41372-018-0062-6DOI Listing
May 2018

Positive Correlation Between Clearance of High-Risk Human Papillomavirus and Lack of Residual Disease After Loop Excision of the Transformation Zone in Early Stage Cervical Cancer.

J Low Genit Tract Dis 2017 Oct;21(4):294-298

1Department of Obstetrics & Gynecology, Carmel Medical Center, Haifa, Israel; 2Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; 3Department of Pathology, Carmel Medical Center, Haifa, Israel; and 4Clinical Serology and Virology Laboratory, Carmel Medical Center, Haifa, Israel.

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http://Insights.ovid.com/crossref?an=00128360-201710000-0001
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http://dx.doi.org/10.1097/LGT.0000000000000327DOI Listing
October 2017

Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients.

Medicine (Baltimore) 2017 May;96(20):e6931

aSharett Institute of Oncology bLeslie and Michael Gaffin Center for Oncology, Departments of Oncology and Neurology, Hebrew University-Hadassah Medical Center cDepartment of Pediatrics, Hadassah Medical Center, Division of Pediatric Hematology and Oncology dLautenberg Center for Immunology, IMRIC, The Hebrew University-Hadassah Medical School eDepartment of Pathology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.

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http://Insights.ovid.com/crossref?an=00005792-201705190-0002
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http://dx.doi.org/10.1097/MD.0000000000006931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440149PMC
May 2017

High Incidence of Carcinosarcoma among Patients Previously Treated with Tamoxifen.

Isr Med Assoc J 2017 Mar;19(3):164-167

1Division of Gynecology Oncology, Department of Obstetrics and Gynecology, Carmel Medical Center, affiliated with Faculty Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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March 2017

Clinical course and outcome of patients with high-level microsatellite instability cancers in a real-life setting: a retrospective analysis.

Onco Targets Ther 2017 29;10:1889-1896. Epub 2017 Mar 29.

Sharett Institute of Oncology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.2147/OTT.S126905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384685PMC
March 2017

Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer.

Int J Cancer 2017 05 8;140(9):2145-2149. Epub 2017 Feb 8.

Sharett Institute of Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ijc.30616DOI Listing
May 2017

Two-Dimensional Sonographic Evaluation of Endometrial Polyps - Parameters That Are Reassuring.

Gynecol Obstet Invest 2016 4;81(4):359-62. Epub 2016 Jun 4.

Unit of Gynecological Ultrasonography, Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1159/000441779DOI Listing
April 2017

The prognostic significance of hematological parameters in women with uterine serous papillary carcinoma (USPC).

Eur J Obstet Gynecol Reprod Biol 2016 Apr 8;199:16-20. Epub 2016 Feb 8.

Division of Gynecology Oncology, Department of Obstetrics and Gynecology, Carmel Medical Center, Technion University, Rappaport Faculty of Medicine, Haifa, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S03012115163002
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http://dx.doi.org/10.1016/j.ejogrb.2016.01.043DOI Listing
April 2016

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.

Cancer Genet 2015 Dec 22;208(12):621-4. Epub 2015 Oct 22.

Department of Genetics and Metabolic Diseases, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.cancergen.2015.10.001DOI Listing
December 2015

An Unusual Uterine Cavity Phenomenon.

J Minim Invasive Gynecol 2015 Nov-Dec;22(7):1130-1. Epub 2015 Feb 10.

Department of Obstetrics and Gynecology, Carmel Medical Center, Haifa, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S15534650150014
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http://dx.doi.org/10.1016/j.jmig.2015.02.001DOI Listing
February 2016

"I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerations.

Genet Test Mol Biomarkers 2014 Jul 10;18(7):461-6. Epub 2014 Jun 10.

1 Department of Nursing, University of Haifa , Haifa, Israel .

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http://dx.doi.org/10.1089/gtmb.2013.0513DOI Listing
July 2014

Traumatic brain injury, boredom and depression.

Behav Sci (Basel) 2013 Sep 2;3(3):434-44. Epub 2013 Aug 2.

Department of Psychology, University of Waterloo, 200 University Avenue West, Waterloo, Ontario N2L 3G1, Canada; E-Mail:

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http://www.mdpi.com/2076-328X/3/3/434
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http://dx.doi.org/10.3390/bs3030434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4217597PMC
September 2013

Lynch Syndrome in high risk Ashkenazi Jews in Israel.

Fam Cancer 2014 Mar;13(1):65-73

Sharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Kyriat Hadassah, POB 12000, 91120, Jerusalem, Israel,

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http://dx.doi.org/10.1007/s10689-013-9675-2DOI Listing
March 2014

Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations.

Breast Cancer Res Treat 2013 Jul 4;140(1):207-11. Epub 2013 Jul 4.

Sharett Institute of Oncology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10549-013-2621-zDOI Listing
July 2013

Exploring the relationship between boredom and sustained attention.

Exp Brain Res 2012 Aug 23;221(1):59-67. Epub 2012 Jun 23.

Department of Psychology, University of Waterloo, 200 University Avenue West, Waterloo, ON N2L 3G1, Canada.

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http://dx.doi.org/10.1007/s00221-012-3147-zDOI Listing
August 2012

[Management of hereditary non-polyposis syndrome (Lynch syndrome)].

Harefuah 2011 Apr;150(4):392-6, 416

The Section of Gastrointestinal Oncology, the Israeli Gastroenterology Association.

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April 2011

[Guidelines for diagnosis, treatment, surveillance and prevention of cancer in patients with familial non-adenomatous polyposis].

Harefuah 2011 Jul;150(7):607-10, 615

The Section of Gastrointestinal Oncology, the Israeli Gastroenterology Association.

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July 2011

[The Israeli recommendations for diagnosis, management, follow-up and prevention of colorectal cancer (CRC) in familial adenomatous polyposis].

Harefuah 2011 Jul;150(7):603-6, 616, 615

The Section of Gastrointestinal Oncology, the Israeli Gastroenterology Association.

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July 2011

Limbic response to psychosocial stress in schizotypy: a functional magnetic resonance imaging study.

Schizophr Res 2011 Sep 25;131(1-3):184-91. Epub 2011 Jun 25.

McConnell Brain Imaging Center, Montreal Neurological Institute, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1016/j.schres.2011.05.016DOI Listing
September 2011

Complete remission, in BRCA2 mutation carrier with metastatic pancreatic adenocarcinoma, treated with cisplatin based therapy.

Cancer Biol Ther 2011 Aug 1;12(3):165-8. Epub 2011 Aug 1.

Sharett Institute of Oncology, Hadassah - Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.

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http://dx.doi.org/10.4161/cbt.12.3.16292DOI Listing
August 2011

Two BRCA1/2 founder mutations in Jews of Sephardic origin.

Fam Cancer 2011 Mar;10(1):59-63

Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1007/s10689-010-9395-9DOI Listing
March 2011

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

Fam Cancer 2010 Jun;9(2):141-50

Sharret Institute of Oncology, Hadassah-Hebrew University Medical Center, Kyriat Hadassah, POB 12000, 91120, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10689-009-9298-9DOI Listing
June 2010

Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

Fam Cancer 2009 20;8(3):187-94. Epub 2008 Dec 20.

Schneider Children's Medical Center of Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s10689-008-9227-3DOI Listing
January 2010

Pelvic splenosis mimicking an ovarian mass: a non-invasive approach.

Isr Med Assoc J 2007 Nov;9(11):819-20

Department of Obstetrics and Gynecology, Carmel Medical Center, Haifa, Israel.

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November 2007

Anagram software for cognitive research that enables specification of psycholinguistic variables.

Behav Res Methods 2006 May;38(2):196-201

School of Computer Science, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.3758/bf03192769DOI Listing
May 2006

Prenatal sonographic diagnosis of Grebe syndrome.

J Ultrasound Med 2006 Jan;25(1):115-8; quiz 119-21

Division of Reproductive Genetics, Department of Obstetrics and Gynecology, The Albert Einstein College of Medicine, Bronx, NY 10461 USA.

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http://dx.doi.org/10.7863/jum.2006.25.1.115DOI Listing
January 2006

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Eur J Hum Genet 2004 Jan;12(1):38-43

Laboratory of Human Molecular Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://www.nature.com/articles/5201087
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http://dx.doi.org/10.1038/sj.ejhg.5201087DOI Listing
January 2004

Clinical and ultrasonographic weight estimation in large for gestational age fetus.

Eur J Obstet Gynecol Reprod Biol 2002 Oct;105(1):20-4

Department of Obstetrics and Gynecology, Afula and the Rappaport Faculty of Medicine, Ha'Emek Medical Center, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1016/s0301-2115(02)00140-9DOI Listing
October 2002