Vanesa López-González

Vanesa López-González

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Vanesa López-González

Vanesa López-González

Publications by authors named "Vanesa López-González"

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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

[Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study].

An Pediatr (Barc) 2019 Sep 2. Epub 2019 Sep 2.

Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), Instituto Murciano de Investigación Biosanitaria (IMIB)-Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2019.07.006DOI Listing
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

[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene].

An Pediatr (Barc) 2019 May 27. Epub 2019 May 27.

Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2019.03.010DOI Listing
May 2019

Arthralgias and Articular Hyperlaxitude in Women with Ophthalmopathy and Early Deafness.

Reumatol Clin 2018 Nov 26. Epub 2018 Nov 26.

Servicio de Cardiología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España.

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http://dx.doi.org/10.1016/j.reuma.2018.10.010DOI Listing
November 2018

Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies.

Am J Med Genet A 2015 Apr 5;167A(4):786-90. Epub 2015 Feb 5.

Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain; Instituto Murciano de Investigación Biosanitaria-Arrixaca (IMIB-Arrixaca); Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de, Salud Carlos III (ISCIII), Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36949DOI Listing
April 2015

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

Am J Med Genet A 2015 Apr 18;167A(4):902-6. Epub 2015 Feb 18.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36811DOI Listing
April 2015

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

Am J Med Genet A 2014 May 29;164A(5):1136-42. Epub 2014 Jan 29.

Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain; Cátedra de Genética Médica, Universidad Católica de San Antonio (UCAM), Murcia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36409DOI Listing
May 2014

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

Genomics 2014 Apr 4;103(4):288-91. Epub 2014 Mar 4.

Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Cátedra de Genética Médica, Universidad Católica de San Antonio (UCAM), Murcia, Spain.

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http://dx.doi.org/10.1016/j.ygeno.2014.02.008DOI Listing
April 2014

Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.

Am J Med Genet A 2013 Sep 25;161A(9):2369-75. Epub 2013 Jul 25.

Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, El Palmar, Murcia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36103DOI Listing
September 2013

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.

Am J Med Genet A 2013 Aug 21;161A(8):2030-5. Epub 2013 Jun 21.

Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36007DOI Listing
August 2013

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

Gene 2012 Apr 9;497(2):292-7. Epub 2012 Feb 9.

Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, Murcia, Spain.

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http://dx.doi.org/10.1016/j.gene.2012.01.088DOI Listing
April 2012