Publications by authors named "Monica Rosello"

39Publications

Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without Deletion.

J Pediatr Genet 2020 Mar 3;9(1):53-57. Epub 2019 Sep 3.

Dysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.

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http://dx.doi.org/10.1055/s-0039-1694779DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976337PMC
March 2020

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

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

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

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

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.

Int J Genomics 2017 24;2017:4798474. Epub 2017 May 24.

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avenida de Fernando Abril Martorell 106, 46026 Valencia, Spain.

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http://dx.doi.org/10.1155/2017/4798474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463148PMC
May 2017

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

J Med Genet 2017 02 12;54(2):87-92. Epub 2016 Sep 12.

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2016-103964DOI Listing
February 2017

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Pediatr Res 2016 12 8;80(6):809-815. Epub 2016 Aug 8.

Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1038/pr.2016.162DOI Listing
December 2016

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.

Genet Med 2015 Aug;17(8):683-4

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1038/gim.2015.86DOI Listing
August 2015

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.

Biomed Res Int 2015 27;2015:341986. Epub 2015 May 27.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Avenida de Campanar 21, 46009 Valencia, Spain.

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http://dx.doi.org/10.1155/2015/341986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461700PMC
March 2016

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Am J Med Genet A 2015 Jun 21;167(6):1342-8. Epub 2015 Apr 21.

Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36999DOI Listing
June 2015

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Am J Med Genet A 2015 Jul 9;167(7):1614-20. Epub 2015 Apr 9.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37046DOI Listing
July 2015

Phenotype profiling of patients with intellectual disability and copy number variations.

Eur J Paediatr Neurol 2014 Sep 18;18(5):558-66. Epub 2014 Apr 18.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitari i Politècnic "La Fe", Avenida Campanar 21, 46009 Valencia, Spain.

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http://dx.doi.org/10.1016/j.ejpn.2014.04.010DOI Listing
September 2014

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Am J Med Genet A 2014 Apr 23;164A(4):918-23. Epub 2014 Jan 23.

Unidad de Genética y Diagnostico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36371DOI Listing
April 2014

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

Med Clin (Barc) 2014 Jun 20;142(12):531-7. Epub 2013 Jun 20.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2013.04.034DOI Listing
June 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Expression of aquaporins early in human pregnancy.

Early Hum Dev 2012 Aug 14;88(8):589-94. Epub 2012 Feb 14.

Neonatal Research Unit, Research Institute Hospital La Fe, Bulevar Sur s/n, Valencia, Spain.

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http://dx.doi.org/10.1016/j.earlhumdev.2012.01.009DOI Listing
August 2012

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.

BMC Med Genomics 2010 Nov 23;3:54. Epub 2010 Nov 23.

Unidad de Genética y Diagnostico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1186/1755-8794-3-54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002293PMC
November 2010

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

J Inherit Metab Dis 2009 Dec 23;32 Suppl 1:S349-53. Epub 2009 Dec 23.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avda. Campanar, 21, 46009, Valencia, Spain.

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http://dx.doi.org/10.1007/s10545-009-9014-9DOI Listing
December 2009

[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

Med Clin (Barc) 2007 Mar;128(11):419-21

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avda. Campanar 21, 46009 Valencia, Spain.

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http://dx.doi.org/10.1157/13100343DOI Listing
March 2007

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.

Am J Med Genet A 2007 Feb;143(4):382-4

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.31608DOI Listing
February 2007

Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.

Genet Test 2006 ;10(3):174-7

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1089/gte.2006.10.174DOI Listing
June 2007

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

J Lab Clin Med 2006 Jun;147(6):295-300

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1016/j.lab.2006.01.006DOI Listing
June 2006

A subtelomeric translocation apparently implied in multiple abortions.

J Assist Reprod Genet 2006 Feb 5;23(2):97-101. Epub 2006 Apr 5.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avd. Campanar 21, Valencia, 46009, Spain.

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http://link.springer.com/10.1007/s10815-006-9033-5
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http://dx.doi.org/10.1007/s10815-006-9033-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454899PMC
February 2006