Mariëtte J V Hoffer

Mariëtte J V Hoffer

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Mariëtte J V Hoffer

Mariëtte J V Hoffer

Publications by authors named "Mariëtte J V Hoffer"

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29Publications

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

Am J Med Genet A 2016 12 29;170(12):3289-3293. Epub 2016 Aug 29.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.37934DOI Listing
December 2016

Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

Prenat Diagn 2016 Feb 3;36(2):177-85. Epub 2016 Feb 3.

Department of Obstetrics and Fetal Medicine, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1002/pd.4767DOI Listing
February 2016

Next-generation diagnostics: gene panel, exome, or whole genome?

Hum Mutat 2015 Jun 17;36(6):648-55. Epub 2015 Apr 17.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.22783DOI Listing
June 2015

Successful noninvasive trisomy 18 detection using single molecule sequencing.

Clin Chem 2013 Apr 11;59(4):705-9. Epub 2013 Jan 11.

Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis (LDGA), Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2012.196212DOI Listing
April 2013

Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.

Clin Chem 2012 Apr 25;58(4):699-706. Epub 2012 Jan 25.

Center for Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1373/clinchem.2011.174698DOI Listing
April 2012

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-1505DOI Listing
February 2011

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Eur J Med Genet 2008 Sep-Oct;51(5):479-87. Epub 2008 May 3.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, Postzone S-6-P, 2333 CZ Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.003DOI Listing
November 2008

Chromosomal region 11p15 is associated with male factor subfertility.

Mol Hum Reprod 2003 Oct;9(10):587-92

Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/molehr/gag081DOI Listing
October 2003

Partial DAZ deletions in a family with five infertile brothers.

Fertil Steril 2003 Jun;79 Suppl 3:1652-5

Center for Reproductive Medicine, Academic Medical Center, The, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/s0015-0282(03)00338-8DOI Listing
June 2003

Reduced copy number of DAZ genes in subfertile and infertile men.

Fertil Steril 2002 Jan;77(1):68-75

Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/s0015-0282(01)02935-1DOI Listing
January 2002