L. Castaño

发表

Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA

I. Santin, S. Gaztambide, J. Bilbao, 2009, Genes and Immunity.

ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.

L. Bottolo, K. Ong, J. Radley, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Molecular Differences Based on Erythrocyte Fatty Acid Profile to Personalize Dietary Strategies between Adults and Children with Obesity

S. Gaztambide, C. Ferreri, K. Portune, 2021, Metabolites.

Urinary iodine and thyroid function in a population of healthy pregnant women in the North of Spain.

M. Espada, I. Rica, L. Castaño, 2013, Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements.

Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.

P. Santisteban, J. Bilbao, A. Carrascosa, 2006, The Journal of clinical endocrinology and metabolism.

Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization

L. Castaño, R. Martínez, A. Vela, 2017, Clinical endocrinology.

Association of insulin-dependent diabetes mellitus and celiac disease: a study based on serologic markers.

J. Bilbao, L. Castano, I. Rica, 1998, Journal of pediatric gastroenterology and nutrition.

Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis.

P. Bingley, J. Ilonen, Å. Lernmark, 2007, Tissue antigens.

Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: Comparison of IgG and IgA

J. Bilbao, L. Castaño, G. Perez de Nanclares, 2007, Autoimmunity.

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

S. Borrego, G. Antiñolo, R. Fernández, 2011, BMC Medical Genetics.

Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY

I. Urrutia, J. Bilbao, I. Rica, 2017, PloS one.

Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

G. Ariceta, L. Castaño, L. Martín-Penagos, 2021, Pediatric Nephrology.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

P. Lapunzina, M. Campo, J. Calaf, 2010, The Journal of clinical endocrinology and metabolism.

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.

C. Largo, M. Bastepe, E. Fernandez-Rebollo, 2010, The Journal of clinical endocrinology and metabolism.

Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations.

S. Ferchichi, L. Castaño, R. Martínez, 2018, Gene.

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

G. Ariceta, F. Santos, J. A. Camacho, 2015, European Journal of Pediatrics.

Long-term and acute effects of gliadin on small intestine of patients on potentially pathogenic networks in celiac disease

I. Santin, J. Bilbao, A. Castellanos-Rubio, 2010, Autoimmunity.

Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease

P. Fain, S. Gaztambide, J. Bilbao, 2006, Genes and Immunity.

Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus

J. Bilbao, L. Castaño, G. Pérez de Nanclares, 2005, Autoimmunity.

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

I. Urrutia, L. Castaño, R. Martínez, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.

I. Santin, S. Gaztambide, H. Jüppner, 2007, The Journal of clinical endocrinology and metabolism.

Specific Association of HLA-DR4 With Increased Prevalence and Level of Insulin Autoantibodies in First-Degree Relatives of Patients With Type I Diabetes

G. Eisenbarth, S. Brink, L. Castano, 1991, Diabetes.

Liver osteopontin is required to prevent the progression of age‐related nonalcoholic fatty liver disease

S. Gaztambide, M. Martínez-Chantar, Á. González-Rodríguez, 2020, Aging cell.

Influence of Sex and Age at Onset on Autoantibodies against Insulin, GAD65 and IA2 in Recent Onset Type 1 Diabetic Patients

J. Bilbao, J. Vazquez, I. Rica, 2001, Hormone Research in Paediatrics.

The Molecular Registry of Pituitary Adenomas (REMAH): A bet by Spanish Endocrinology for the future of individualized medicine and translational research

S. Gaztambide, M. Puig-Domingo, M. Marazuela, 2016 .

The Molecular Registry of Pituitary Adenomas (REMAH): A bet of Spanish Endocrinology for the future of individualized medicine and translational research.

S. Gaztambide, M. Puig-Domingo, M. Marazuela, 2016, Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion.

Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients

M. Clemente, A. Carrascosa, L. Castaño, 2018, Endocrinology, diabetes & metabolism case reports.

Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.

G. Ariceta, S. Gaztambide, L. Castaño, 2019, European journal of endocrinology.

A Novel Mutation in a Patient with Hyperparathyroidism–Jaw Tumour Syndrome

S. Gaztambide, Virginia Bellido, L. Castaño, 2016, Endocrine Pathology.

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4

I. Santin, J. Bilbao, A. Castellanos-Rubio, 2007, Genes and Immunity.

Killer cell immunoglobulin-like receptor (KIR) genes in the Basque population: association study of KIR gene contents with type 1 diabetes mellitus.

I. Santin, J. Bilbao, L. Castaño, 2006, Human immunology.

Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease.

J. Bilbao, A. Castellanos-Rubio, N. Fernandez-Jimenez, 2010, Human immunology.

Filtration is a time-efficient option to Histopaque, providing good-quality islets in mouse islet isolation

L. Castaño, M. Ramírez-Domínguez, Miriam Ramírez-Domínguez, 2015, Cytotechnology.

An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis

I. Santin, I. Urrutia, K. Garcia-Etxebarria, 2017, Diabetes.

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

J. Bilbao, L. Audí, L. Castaño, 1998, European journal of endocrinology.

HLA‐DRB1 and MICA in Autoimmunity

J. Bilbao, Federico Vázquez, L. Castaño, 2003, Annals of the New York Academy of Sciences.

No Association of CTLA4 Gene With Celiac Disease in the Basque Population

J. Bilbao, L. Castaño, Guiomar Pérez de Nanclares, 2003, Journal of pediatric gastroenterology and nutrition.

HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac disease.

J. Bilbao, L. Castaño, L. Ortiz, 2002, Tissue antigens.

5′‐Insulin Gene VNTR Polymorphism Is Specific for Type 1 Diabetes

J. Bilbao, Federico Vázquez, L. Castaño, 2003, Annals of the New York Academy of Sciences.

Analysis of Chromosome 6q in Basque Families with Type 1 Diabetes

J. Bilbao, L. Castaño, Guiomar Pérez de Nanclares, 2001, Autoimmunity.

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

E. Fernandez-Rebollo, L. Castaño, Guiomar Pérez de Nanclares, 2009, European journal of endocrinology.

MICA response to gliadin in intestinal mucosa from celiac patients

J. Bilbao, L. Castaño, L. Ortiz, 2004, Immunogenetics.

Short title: Paternal disomy in PHP patients

E. Fernandez-Rebollo, F. Goñi, L. Castaño, 2010 .

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene

J. Bilbao, L. Castaño, J. Rodríguez-soriano, 2001, Pediatric Nephrology.

The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP‐binding residue

F. Ashcroft, K. Shimomura, L. Castaño, 2010, Diabetic medicine : a journal of the British Diabetic Association.

Heterozygous glucokinase mutations and birth weight in Spanish children

I. Rica, L. Castaño, R. Martínez, 2009, Diabetic medicine : a journal of the British Diabetic Association.

Combined functional and positional gene information for the identification of susceptibility variants in celiac disease.

I. Santin, J. Bilbao, A. Aransay, 2008, Gastroenterology.

Normal intellectual development in children born from women with hypothyroxinemia during their pregnancy.

M. Espada, I. Rica, L. Castaño, 2015, Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements.

RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation.

C. Lamas, S. Gaztambide, E. Navarro, 2015, European journal of endocrinology.

Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

S. Gaztambide, L. Castaño, G. Pérez‐Nanclares, 2012, Clinical endocrinology.

Five patients with disorders of calcium metabolism presented with GCM2 gene variants

I. Urrutia, S. Gaztambide, L. Castaño, 2021, Scientific Reports.

Anti-Insulin Activity in Normal Newborn Cord-Blood Serum: Absence of IgG-Mediated Insulin Binding

I. Urrutia, J. Bilbao, L. Castano, 1997, Diabetes.

RET Cys 634 Arg mutation confers a more aggressive multiple endocrine neoplasia type 2 A phenotype than Cys 634 Tyr mutation

C. Lamas, S. Gaztambide, E. Navarro, 2015 .

Is routine endocrine evaluation necessary after paediatric traumatic brain injury?

I. Rica, L. Castaño, G. Grau, 2014, Journal of Endocrinological Investigation.

No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population

I. Santin, J. Bilbao, L. Castaño, 2006, Annals of the New York Academy of Sciences.

Thyroid hormone resistance from newborns to adults: a Spanish experience

I. Rica, L. Castaño, I. Rios, 2019, Journal of Endocrinological Investigation.

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

M. Nistal, C. Flück, A. Pandey, 2012, The Journal of clinical endocrinology and metabolism.

Excess iron storage in patients with type 2 diabetes unrelated to primary hemochromatosis.

S. Gaztambide, J. Bilbao, J. Vazquez, 2000, The New England journal of medicine.

Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus

L. Castaño, Manuela Muñoz-Torres, T. Velayos, 2015, PloS one.

Novel genes and sex differences in COVID-19 severity

Gloria L. Porras-Hurtado, M. Urioste, M. Buti, 2022, Human molecular genetics.

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

A. Hattersley, S. Ellard, L. Harries, 2010, Proceedings of the National Academy of Sciences.

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis

L. Castaño, L. Loridan, J. Ramon Bilbao, 1996, Human Genetics.

Molecular Analysis of Frasier Syndrome: Mutation in the WT1 Gene in a Girl with Gonadal Dysgenesis and Nephronophthisis

J. Bilbao, I. Rica, L. Castaño, 2002, Journal of pediatric endocrinology & metabolism : JPEM.

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

C. Flück, N. Camats, M. Fernández-Cancio, 2019, Front. Genet..

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

C. Flück, I. Esteva, L. Castaño, 2020, International journal of molecular sciences.

Simple Virilizing Congenital Adrenal Hyperplasia: A case Report of Sudanese 46, XY DSD male with G293D variant in CYP21A2

L. Castaño, M. Ellaithi, M. A. Hemaida, 2019 .

No evidence of association of chromosome 2 q with Type I diabetes in the Basque population

L. Nisticò, J. Bilbao, R. Buzzetti, 1999, Diabetologia.

Celiac Diasease–associated lncRNA Named HCG14 Regulates NOD1 Expression in Intestinal Cells

I. Santin, K. Garcia-Etxebarria, J. Bilbao, 2018, Journal of pediatric gastroenterology and nutrition.

Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease.

I. Santin, J. Bilbao, A. Castellanos-Rubio, 2007, Tissue antigens.

Short CommunicationNo Evidence of Association of CTLA4 Polymorphisms with Addison's Disease

Federico Vázquez, L. Castaño, G. Perez de Nanclares, 2004, Autoimmunity.

Mutations in GCK and HNF‐1α explain the majority of cases with clinical diagnosis of MODY in Spain

J. Bilbao, I. Rica, L. Castaño, 2007, Clinical endocrinology.

New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

R. Scharfmann, P. Froguel, M. Polak, 2007, Diabetes.

Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing

P. Froguel, M. Polak, H. Cavé, 2014, Diabetes Care.

Contribution of MIC‐A Polymorphism to Type 1 Diabetes Mellitus in Basques

J. Bilbao, L. Castaño, G. Perez de Nanclares, 2002, Annals of the New York Academy of Sciences.

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

E. Fernandez-Rebollo, I. Rica, L. Castaño, 2008, Clinical endocrinology.

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

S. Gaztambide, E. Fernandez-Rebollo, L. Castaño, 2013, The Journal of clinical endocrinology and metabolism.

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.

E. Fernandez-Rebollo, F. Goñi, L. Castaño, 2010, European journal of endocrinology.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

M. Bastepe, O. Hiort, L. Pallardo, 2009, Journal of Medical Genetics.

Genetics of pseudohypoparathyroidism: bases for proper genetic counselling.

S. Gaztambide, E. Fernandez-Rebollo, L. Castaño, 2008, Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion.

New mutation type in pseudohypoparathyroidism type Ia

E. Fernandez-Rebollo, L. Castaño, R. Barrio, 2008, Clinical endocrinology.

Prospective Population Screening for Celiac Disease: High Prevalence in the First 3 Years of Life

J. Bilbao, I. Rica, L. Castaño, 2004, Journal of pediatric gastroenterology and nutrition.

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1

J. Fernández-Toral, L. Castaño, J. López-Siguero, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

Fatty Acid Profile of Mature Red Blood Cell Membranes and Dietary Intake as a New Approach to Characterize Children with Overweight and Obesity

C. Ferreri, K. Portune, I. Rica, 2020, Nutrients.

Anomalous behaviour of the 5 ′ insulin gene polymorphism allele 814 : lack of association with Type I diabetes in Basques

I. Urrutia, J. Bilbao, L. Castaño, 1998, Diabetologia.

Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?

I. Urrutia, I. Rica, L. Castaño, 2019, PloS one.

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

G. Ariceta, L. Castaño, A. Aguayo, 2018, Clinical kidney journal.

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

G. Ariceta, E. Lucas, L. Castaño, 2013, PloS one.

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

J. Bilbao, E. Fernandez-Rebollo, I. Rica, 2007, Diabetic medicine : a journal of the British Diabetic Association.

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes

F. Ashcroft, N. Absalom, K. Shimomura, 2006, Pflügers Archiv.

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

I. Urrutia, S. Gaztambide, L. Castaño, 2018, Endocrinology, diabetes & metabolism case reports.

Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene

J. Bilbao, L. Castaño, J. Rodríguez-soriano, 2001, Pediatric Nephrology.

Ala cannot explain the phenotype of individuals with a 1 difference of sex development . 2 3

C. Flück, N. Camats, I. Esteva, 2023 .

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

A. Sinclair, Amaia Rodríguez, C. Flück, 2018, Front. Endocrinol..

Multiple endocrine neoplasia type 1 (MEN1): clinical heterogeneity in a large family with a nonsense mutation in the MEN1 gene (Trp471Stop)

V. Álvarez, E. Coto, L. Castaño, 1999, Clinical endocrinology.

Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene

L. Harries, Ó. Rubio-Cabezas, L. Castaño, 2012, PloS one.

The [HLA-B18, F1C30, DR3] Conserved Extended Haplotype Carries a Susceptibility Gene for IgD Deficiency

D. Marcus-Bagley, C. Alper, L. Castaño, 2000, Journal of Clinical Immunology.

Analysis of the Expression of MICA in Small Intestinal Mucosa of Patients with Celiac Disease

J. Bilbao, L. Castaño, L. Ortiz, 2003, Journal of Clinical Immunology.

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

S. Gaztambide, L. Hernández-Ramírez, M. I. Hernández, 2021, European journal of endocrinology.

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

F. Faucz, C. Stratakis, M. Lodish, 2020, Frontiers in Endocrinology.

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

G. Ariceta, J. Ben Chibani, L. Castaño, 2013, BMC Medical Genetics.

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.

G. Ariceta, H. Bouzidi, L. Castaño, 2014, Clinical nephrology.

Forty-one individuals with mutations in the AVP-NPII gene associated with familial neurohypophyseal diabetes insipidus.

I. Urrutia, S. Gaztambide, M. Rodríguez-Arnao, 2020, The Journal of clinical endocrinology and metabolism.

Absence of diabetes mellitus type 2 in obese children and adolescents in the north of Spain

I. Rica, L. Castaño, P. Martul, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

I. Urrutia, I. Rica, L. Castaño, 2016, European journal of endocrinology.

Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report

I. Rica, L. Castaño, A. Aguayo, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

Panhypopituitarism: Genetic Versus Acquired Etiological Factors

R. Coya, I. Rica, L. Castaño, 2007, Journal of pediatric endocrinology & metabolism : JPEM.

Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives.

L. Castaño, Leire Madariaga, Alejandro García-Castaño, 2020, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

A. Carrascosa, L. Audí, L. Castaño, 2008, European Journal of Pediatrics.

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

G. Ariceta, E. Lucas, L. Castaño, 2017, PloS one.

Accuracy in Copy Number Calling by qPCR and PRT: A Matter of DNA

J. Bilbao, A. Castellanos-Rubio, G. Gutiérrez, 2011, PloS one.

A submicroscopic deletion of 11p13 associated with the WAGR syndrome

F. Martínez, J. Bilbao, L. Castaño, 2003, Clinical genetics.

Potential of Erythrocyte Membrane Lipid Profile as a Novel Inflammatory Biomarker to Distinguish Metabolically Healthy Obesity in Children

C. Ferreri, K. Portune, I. Rica, 2021, Journal of personalized medicine.

Osteopontin regulates the cross-talk between phosphatidylcholine and cholesterol metabolism in mouse liver[S]

J. Marin, C. García-Monzón, X. Buqué, 2017, Journal of Lipid Research.

Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial

A. Borobia, A. Carcas, J. Frías, 2021, The Lancet.

Reactogenicity and Immunogenicity of BNT162b2 in Subjects Having Received a First Dose of ChAdOx1s: Initial Results of a Randomised, Adaptive, Phase 2 Trial (CombiVacS)

A. Borobia, A. Carcas, D. Lora, 2021, SSRN Electronic Journal.

DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway

D. Eizirik, I. Santin, L. Marroqui, 2018, Diabetologia.

Associations between COMTVal158Met polymorphism and cognition: direct or indirect effects?

L. Krabbendam, J. van Os, S. Papiol, 2006, European Psychiatry.

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

J. Argente, S. Shyng, L. Castaño, 2010, The Journal of clinical endocrinology and metabolism.

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

J. Argente, S. Shyng, L. Castaño, 2010 .

TH17 (and TH1) signatures of intestinal biopsies of CD patients in response to gliadin

Izortze Santin, Ainara Castellanos-Rubio, I. Santin, 2009, Autoimmunity.

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

J. Bilbao, L. Castaño, J. Rodríguez-soriano, 2005, Pediatric Nephrology.

Mutations in MAFA and IAPP are not a common cause of monogenic diabetes

L. Castaño, G. Pérez de Nanclares, R. Martínez, 2009, Diabetic medicine : a journal of the British Diabetic Association.

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients

A. Marina, M. Garcia-Gimeno, P. Sanz, 2008, Journal of Human Genetics.

Prevalence of diabetes mellitus and impaired glucose metabolism in the adult population of the Basque Country, Spain

I. Urrutia, S. Gaztambide, L. Castaño, 2017, Diabetic medicine : a journal of the British Diabetic Association.

No Association of INS‐VNTR Genotype and IAA Autoantibodies

J. Bilbao, L. Castaño, G. P. Nanclares, 2004, Annals of the New York Academy of Sciences.

The functional R620W variant of the PTPN22 gene is associated with celiac disease.

I. Santin, J. Bilbao, A. Aransay, 2008, Tissue antigens.

Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine

L. Castaño, G. Perez de Nanclares, Pilar Anton-Martin, 2011, European Journal of Pediatrics.

Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family

I. Rica, L. Castaño, G. Pérez de Nanclares, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

Genetic risk factors for thrombosis in a Basque population and its possible contribution to the analysis of a complex disease such as thrombophilia.

M. Tejada, M. Baiget, J. Fontcuberta, 2001, Haematologica.

Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain

I. Urrutia, S. Gaztambide, L. Castaño, 2021, Scientific Reports.

Evidence that the COMTVal158Met Polymorphism Moderates Subclinical Psychotic and Affective Symptoms in Unaffected First-Degree Relatives of Patients With Schizophrenia

L. Krabbendam, J. van Os, I. Myin-Germeys, 2008, European Psychiatry.

No Evidence of Pancreatic Autoimmunity among Patients with Multiple Sclerosis

P. Villoslada, J. Bilbao, L. Castaño, 2004, Annals of the New York Academy of Sciences.

A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease.

I. Santin, J. Bilbao, F. Sánchez-Valverde, 2010, Human immunology.

Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus.

I. Urrutia, S. Gaztambide, J. Bilbao, 1998, The Journal of clinical endocrinology and metabolism.

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Sarah Edkins, Cisca Wijmenga, Lude Franke, 2011, Nature Genetics.

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

L. Castaño, A. B. de la Hoz, Leire Madariaga, 2023, Scientific reports.

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

C. Flück, N. Camats, I. Esteva, 2023, PloS one.

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

I. Urrutia, S. Gaztambide, L. Castaño, 2020, PloS one.

An Infrequent Double Mutation in the MEN1 Gene

S. Gaztambide, J. Bilbao, L. Castaño, 2001 .