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Intza Garin

Showing results (21-30 of 36) with videos related to

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European Journal of Endocrinology|September 15, 2010
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidismEduardo Fernández-Rebollo, Beatriz Lecumberri, Intza Garin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 26, 2011
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locusCelia Zazo, Susanne Thiele, Cesar Martín, et al.
The Journal of Clinical Endocrinology and Metabolism|December 17, 2009
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BEduardo Fernandez-Rebollo, Beatriz García-Cuartero, Intza Garin, et al.
The Journal of Clinical Endocrinology and Metabolism|April 12, 2012
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locusGustavo Perez-Nanclares, Valeria Romanelli, Sonia Mayo, et al.
Human Mutation|January 22, 2013
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromesFranck Court, Alex Martin-Trujillo, Valeria Romanelli, et al.
European Journal of Endocrinology|April 1, 2009
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndromeEduardo Fernández-Rebollo, Olga Pérez, Cristina Martinez-Bouzas, et al.
Hereditary Cancer in Clinical Practice|January 28, 2023
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, et al.
The Journal of Clinical Endocrinology and Metabolism|July 19, 2016
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP NetworkFrancesca Marta Elli, Agnès Linglart, Intza Garin, et al.
Clinical Endocrinology|February 6, 2008
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patientsIntza Garin, Itxaso Rica, Itziar Estalella, et al.
Clinical Epigenetics|January 29, 2016
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defectsAnne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
European Journal of Endocrinology|September 15, 2010
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidismEduardo Fernández-Rebollo, Beatriz Lecumberri, Intza Garin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 26, 2011
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locusCelia Zazo, Susanne Thiele, Cesar Martín, et al.
The Journal of Clinical Endocrinology and Metabolism|December 17, 2009
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BEduardo Fernandez-Rebollo, Beatriz García-Cuartero, Intza Garin, et al.
The Journal of Clinical Endocrinology and Metabolism|April 12, 2012
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locusGustavo Perez-Nanclares, Valeria Romanelli, Sonia Mayo, et al.
Human Mutation|January 22, 2013
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromesFranck Court, Alex Martin-Trujillo, Valeria Romanelli, et al.
European Journal of Endocrinology|April 1, 2009
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndromeEduardo Fernández-Rebollo, Olga Pérez, Cristina Martinez-Bouzas, et al.
Hereditary Cancer in Clinical Practice|January 28, 2023
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, et al.
The Journal of Clinical Endocrinology and Metabolism|July 19, 2016
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP NetworkFrancesca Marta Elli, Agnès Linglart, Intza Garin, et al.
Clinical Endocrinology|February 6, 2008
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patientsIntza Garin, Itxaso Rica, Itziar Estalella, et al.
Clinical Epigenetics|January 29, 2016
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defectsAnne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi, et al.
Pageof 4