Publications by authors named "Sixto García-Miñaur"

76Publications

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2021 01 24;185(1):119-133. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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January 2021

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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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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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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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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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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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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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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July 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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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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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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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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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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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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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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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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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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August 2013

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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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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January 2011

Mutations in HPSE2 cause urofacial syndrome.

Am J Hum Genet 2010 Jun;86(6):963-9

Genetic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), School of Biomedicine, University of Manchester, Manchester M13 9WL, UK.

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June 2010

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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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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March 2004