Publications by authors named "Isabel González-Casado"

20Publications

[Noonan syndrome: genetic and clinical update and treatment options].

An Pediatr (Barc) 2020 Jul 31;93(1):61.e1-61.e14. Epub 2020 May 31.

Servicio de Endocrinología Pediátrica, Hospital Regional Universitario de Málaga, Málaga, España. Electronic address:

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July 2020

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of .

J Endocr Soc 2019 Jan 23;3(1):119-128. Epub 2018 Nov 23.

Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain.

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January 2019

A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.

Growth Horm IGF Res 2019 02 18;44:17-19. Epub 2018 Dec 18.

Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute "La Princesa", Madrid, Spain; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain; Universidad Autónoma de Madrid, Department of Pediatrics, Madrid, Spain; IMDEA, Food Institute, CEIUAM+CSI, Crta. de Cantoblanco, 8, 28049 Cantoblanco, Madrid, Spain. Electronic address:

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February 2019

Multiple SLC26A2 mutations occurring in a three-generational family.

Eur J Med Genet 2018 Jan 10;61(1):24-28. Epub 2017 Oct 10.

Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain; Dept. of Paediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain.

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January 2018

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

J Clin Endocrinol Metab 2015 Aug 15;100(8):E1133-42. Epub 2015 Jun 15.

Institute of Medical and Molecular Genetics (A.H.-O., A.I.G.-V., F.S.-C., A.B., S.B.-S., A.C.-B., K.E.H.) and Multidisciplinary Skeletal Dysplasia Unit (A.H.-O., A.B., A.C.B.-B., I.G.-C., S.B.-S., K.E.H.), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, 28046 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras Unit 753 (A.H.-O., A.B., S.B.-S., A.C.-B., K.E.H.), Instituto de Salud Carlos III, 28029 Madrid, Spain; Department of Pediatric Endocrinology (A.C.B.-B., I.G.-C.), Hospital Universitario La Paz, Universidad Autónoma de Madrid, 28046 Madrid, Spain; Unidade de Endocrinologia Genetica (G.A.V., A.A.J.), Laboratorio de Endocrinologia Celular and Molecular LIM-25, Universidade de São Paulo, 05508-900 São Paulo, Brazil; Department of Endocrinology and Nutrition (J.R.), Hospital Universitario Príncipe de Asturias, Alcalá de Henares, 28805 Madrid, Spain; Department of Pediatric Endocrinology (C.L.), Hospital Marqués de Valdecilla, 39008 Santander, Spain; and Department of Pediatric Endocrinology (G.C.), Hospital Virgen del Puerto, 10600 Plasencia, Cáceres, Spain.

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August 2015

Plasma and urine metabolic fingerprinting of type 1 diabetic children.

Electrophoresis 2013 Oct 10;34(19):2882-90. Epub 2013 Sep 10.

Center for Metabolomics and Bioanalysis - CEMBIO, Facultad de Farmacia, Universidad CEU San Pablo, Madrid, Spain.

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October 2013

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

J Pediatr Endocrinol Metab 2011 ;24(5-6):395-7

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

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August 2011

Metabolomic approach to the nutraceutical effect of rosemary extract plus Ω-3 PUFAs in diabetic children with capillary electrophoresis.

J Pharm Biomed Anal 2010 Dec 30;53(5):1298-304. Epub 2010 Jul 30.

CEMBIO (Center for Metabolomics and Bioanalysis) Facultad de Farmacia, Universidad San Pablo-CEU, Campus Montepríncipe, Boadilla del Monte, 28668 Madrid, Spain.

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December 2010

Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population.

Diabetes Res Clin Pract 2009 Jul 1;85(1):20-3. Epub 2009 May 1.

Servicio de Bioquímica, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, CIBERER, Madrid, Spain.

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July 2009

Optimization of treatment in Turner's syndrome.

J Pediatr Endocrinol Metab 2004 Mar;17 Suppl 3:427-34

Endocrinología Pediátrica, Hospital Infantil La Paz, Madrid, Spain.

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March 2004