List of works - Intza Garin

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

scientific article published on 18 May 2018

Brachydactyly E: isolated or as a feature of a syndrome

scientific article published on 12 September 2013

Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype–genotype correlations ⬇️

scientific article published on 01 November 2010

Clinical utility gene card for: pseudohypoparathyroidism

scientific article published on 12 September 2012

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

scientific article published on 4 April 2012

Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas

scientific article published on 14 March 2013

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

scientific article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

article published in 2015

Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report

scientific article published on August 2010

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

scientific article

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

scientific article published on 26 January 2016

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes

scientific article published on 19 February 2013

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

article

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

scientific article

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

scientific article published on 05 January 2012

Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome

article

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 1B.

scientific article

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 1B

scientific article

Multilocus methylation defects in imprinting disorders.

scientific article published on March 2015

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels.

scientific article

Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels

scientific article

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

scientific article published on 13 September 2010

New mutation type in pseudohypoparathyroidism type Ia.

scientific article published on 3 April 2008

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

scientific article published on 16 January 2015

Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

scientific article

Progressive osseous heteroplasia caused by a mosaic gnas mutation.

scientific article published on 21 February 2018

Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification

scientific article published in November 2014

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

scientific article

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

scientific article published on 6 December 2015

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations

scientific article published on 01 November 2017

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

scientific article published on 18 July 2016

The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation.

scientific article

The p.R56* mutation in PTHLH causes variable brachydactyly type E.

scientific article

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

scientific article published in April 2009

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

scientific article

[Glucose and galactose malabsorption: A new case in Spain]

scientific article published on 18 January 2019

List of works by Intza Garin

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

Brachydactyly E: isolated or as a feature of a syndrome

Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype–genotype correlations ⬇️

Clinical utility gene card for: pseudohypoparathyroidism

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome

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 1B.

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 1B

Multilocus methylation defects in imprinting disorders.

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels.

Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

New mutation type in pseudohypoparathyroidism type Ia.

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

Progressive osseous heteroplasia caused by a mosaic gnas mutation.

Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

The Use of Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification for Quantification of Imprinted Methylation.

The p.R56* mutation in PTHLH causes variable brachydactyly type E.

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

[Glucose and galactose malabsorption: A new case in Spain]