Publications by authors named "Sixto García-Miñaúr"

72Publications

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Eur J Hum Genet 2020 Sep 2. Epub 2020 Sep 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.

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http://dx.doi.org/10.1038/s41431-020-00718-4DOI Listing
September 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

Correction to: Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy.

Graefes Arch Clin Exp Ophthalmol 2019 05;257(5):1059

Department of Ophthalmology, La Paz University Hospital, idiPaz, Sor Ángela de la Cruz road, number 9, 7A door, 28020, Madrid, Spain.

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http://dx.doi.org/10.1007/s00417-019-04276-4DOI Listing
May 2019

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Clin Genet 2019 06 29;95(6):726-731. Epub 2019 Apr 29.

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.

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http://doi.wiley.com/10.1111/cge.13504
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http://dx.doi.org/10.1111/cge.13504DOI Listing
June 2019

Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy.

Graefes Arch Clin Exp Ophthalmol 2018 09 4;256(9):1661-1667. Epub 2018 May 4.

Department of Ophthalmology, La Paz University Hospital, idiPaz, Sor Ángela de la Cruz road, number 9, 7A door, 28020, Madrid, Spain.

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http://dx.doi.org/10.1007/s00417-018-3993-xDOI Listing
September 2018

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

Eur J Med Genet 2018 Jul 22;61(7):393-398. Epub 2018 Feb 22.

Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173068
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http://dx.doi.org/10.1016/j.ejmg.2018.02.007DOI Listing
July 2018

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Rev Esp Cardiol (Engl Ed) 2018 Jul 14;71(7):545-552. Epub 2017 Nov 14.

Instituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Unidad de Genética Clínica, Hospital Universitario HM Montepríncipe, Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2017.10.013DOI Listing
July 2018

Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain.

J Genet Couns 2018 06 25;27(3):732-743. Epub 2017 Sep 25.

Centre for Medical Education, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1007/s10897-017-0154-zDOI Listing
June 2018

Keratoconus associated with Williams-Beuren syndrome: a new case report.

Int J Ophthalmol 2017 18;10(4):658-660. Epub 2017 Apr 18.

Department of Genetics, La Paz University Hospital, Madrid 28046, Spain.

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http://dx.doi.org/10.18240/ijo.2017.04.26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406649PMC
April 2017

[Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years].

An Pediatr (Barc) 2016 Aug 28;85(2):104-105. Epub 2016 Feb 28.

Genética Clínica, INGEMM, Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, España; Unidad 753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2016.01.011DOI Listing
August 2016

Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Genet Med 2015 Aug 8;17(8):599-609. Epub 2015 Jan 8.

1] The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada [2] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [3] Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada [4] Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada [5] Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada [6] Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [7] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526275PMC
August 2015

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Med Clin (Barc) 2015 Jan 4;144(2):67-72. Epub 2014 Sep 4.

Centro de Investigación Biomédica en Red en enfermedades raras (CIBERER); Laboratorio Diagnóstico Molecular, Servicio de Bioquímica, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2014.06.009DOI Listing
January 2015

New microdeletion and microduplication syndromes: A comprehensive review.

Genet Mol Biol 2014 Mar;37(1 Suppl):210-9

Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain . ; Section of Molecular Endocrinology, Overgrowth Disordes Laboratory, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983590PMC
http://dx.doi.org/10.1590/s1415-47572014000200007DOI Listing
March 2014

Chondrodysplasia punctata associated with maternal Sjögren syndrome.

Am J Med Genet A 2014 Jun 25;164A(6):1606-10. Epub 2014 Mar 25.

Neonatology Department, Hospital Universitario La Paz, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36470DOI Listing
June 2014

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023223PMC
June 2014

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Am J Med Genet A 2013 Aug 24;161A(8):1950-60. Epub 2013 Jun 24.

Section of Functional and Structural Genomics of Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35960DOI Listing
August 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

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.

Am J Med Genet A 2012 Nov 17;158A(11):2963-8. Epub 2012 Sep 17.

Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35595DOI Listing
November 2012

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

Rev Esp Cardiol (Engl Ed) 2012 May 31;65(5):447-55. Epub 2012 Mar 31.

Laboratorio de Diagnóstico Molecular, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.1016/j.recesp.2011.12.016DOI Listing
May 2012

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

Am J Med Genet A 2011 Dec 28;155A(12):3050-3. Epub 2011 Oct 28.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.34199DOI Listing
December 2011

Myeloproliferative disorder in Noonan syndrome.

J Pediatr Hematol Oncol 2011 Jan;33(1):e43-5

Department of Pediatric Oncology and Hematology, Hospital Universitario Materno-Infantil Vall d'Hebron, Barcelona, Spain.

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https://insights.ovid.com/crossref?an=00043426-201101000-000
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http://dx.doi.org/10.1097/MPH.0b013e3181e7571eDOI Listing
January 2011

The development of a psychoeducational intervention for women living with an increased risk of breast cancer.

Patient Educ Couns 2004 Oct;55(1):99-104

Cancer Research UK, Edinburgh Cancer Research Centre, Western General Hospital, Crewe Road South, Edinburgh, Scotland, UK.

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http://dx.doi.org/10.1016/j.pec.2003.08.004DOI Listing
October 2004

Toward the effective surveillance of hypospadias.

Environ Health Perspect 2004 Mar;112(3):398-402

EUROCAT Central Registry, University of Ulster, Room 15E12, Newtownabbey, County Antrim, Northern Ireland BT37 0QB, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1241874PMC
http://dx.doi.org/10.1289/ehp.6398DOI Listing
March 2004

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.

Eur J Hum Genet 2003 Nov;11(11):892-5

South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201062DOI Listing
November 2003