Publications by authors named "Intza Garin"

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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares

Front Genet· October 2023

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Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Sergio Carrera, Ana Belén Rodríguez-Martínez, Intza Garin, Esther Sarasola, Cristina Martínez

Hered Cancer Clin Pract· January 2023

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[Glucose and galactose malabsorption: A new case in Spain].
Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, Ariane Calvo-Saez, Idoya Martinez-Fernandez de Pinedo

An Pediatr (Engl Ed)· February 2020

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The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation.
Ana Monteagudo-Sánchez, Intza Garin, Guiomar Perez de Nanclares, David Monk

Methods Mol Biol· May 2019

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Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.
Nadia Ayasreh, Gemma Bullich, Rosa Miquel, Mónica Furlano, Patricia Ruiz, Intza Garin

Am J Kidney Dis· September 2018

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Progressive osseous heteroplasia caused by a mosaic GNAS mutation.
Arrate Pereda, Jose Maria Martos-Tello, Intza Garin, Javier Errea-Dorronsoro, Guiomar Perez de Nanclares

Clin Endocrinol (Oxf)· June 2018

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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Arrate Pereda, Intza Garin, , Guiomar Perez de Nanclares

BMC Med Genet· March 2018

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The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.
Agnès Linglart, Giovanna Mantovani, Intza Garin, Alessia Usardi, Francesca Marta Elli

Pediatr Endocrinol Rev· November 2017

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The p.R56* mutation in PTHLH causes variable brachydactyly type E.
Arrate Pereda, Lucia Garzon-Lorenzo, Intza Garin, Jaime Cruz-Rojo, Jaime Sanchez Del Pozo

Am J Med Genet A· March 2017

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From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Susanne Thiele, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Intza Garin

Eur J Endocrinol· December 2016

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The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
Francesca Marta Elli, Agnès Linglart, Intza Garin, Luisa de Sanctis, Paolo Bordogna

J Clin Endocrinol Metab· October 2016

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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
Anne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi, Francesca Elli, Intza Garin

Clin Epigenetics· April 2016

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Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
Cecile Thomas-Teinturier, Arrate Pereda, Intza Garin, Ignacio Diez-Lopez, Agnès Linglart

Am J Med Genet A· March 2016

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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
Intza Garin, Giovanna Mantovani, Urko Aguirre, Anne Barlier, Bettina Brix

Eur J Hum Genet· April 2015

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Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
Intza Garin, Francesca M Elli, Agnes Linglart, Caroline Silve, Luisa de Sanctis

J Clin Endocrinol Metab· April 2015

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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
Intza Garin, Giovanna Mantovani, Urko Aguirre, Anne Barlier, Bettina Brix

Eur J Hum Genet· April 2015

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Multilocus methylation defects in imprinting disorders.
Deborah J G Mackay, Thomas Eggermann, Karin Buiting, Intza Garin, Irène Netchine

Biomol Concepts· March 2015

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Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
Arrate Pereda, Sharona Azriel, Mariona Bonet, Intza Garin, Blanca Gener

J Pediatr Endocrinol Metab· November 2014

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Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.
Angela Domínguez-García, Rosa Martínez, Inés Urrutia, Intza Garin, Luis Castaño

J Pediatr Endocrinol Metab· May 2014

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Brachydactyly E: isolated or as a feature of a syndrome.
Arrate Pereda, Intza Garin, Maria Garcia-Barcina, Blanca Gener, Elena Beristain

Orphanet J Rare Dis· September 2013

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Clinical utility gene card for: pseudohypoparathyroidism.
Giovanna Mantovani, Agnes Linglart, Intza Garin, Caroline Silve, Francesca M Elli

Eur J Hum Genet· June 2013

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Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas.
Elena Beristain, Maria-Angeles Vicente, Isabel Guerra, Francisco-Borja Gutiérrez-Corres, Intza Garin

J Clin Endocrinol Metab· May 2013

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Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.
Franck Court, Alex Martin-Trujillo, Valeria Romanelli, Intza Garin, Isabel Iglesias-Platas

Hum Mutat· April 2013

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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
Gustavo Perez-Nanclares, Valeria Romanelli, Sonia Mayo, Intza Garin, Celia Zazo Seco

J Clin Endocrinol Metab· June 2012

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Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.
Intza Garin, Guiomar Perez de Nanclares, Elena Gastaldo, Lorna W Harries, Oscar Rubio-Cabezas

PLoS One· May 2012

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