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Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity

The Journal of biological chemistry, 2003-05, Vol.278 (19), p.17190-17197

2003

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Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe

Clinical genetics, 2013-04, Vol.83 (4), p.384-387

2013

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Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context

Endocrine pathology, 2013-12, Vol.24 (4), p.234-238

2013

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Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes

International journal of andrology, 2011-10, Vol.34 (5pt1), p.470-485

2011

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Polymorphism of the tumor necrosis factor-alpha receptor 2 gene is associated with obesity, leptin levels, and insulin resistance in young subjects and diet-treated type 2 diabetic patients

Diabetes care, 2000-06, Vol.23 (6), p.831-837

2000

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Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene

Clinical endocrinology (Oxford), 2007-07, Vol.67 (1), p.29-33

2007

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Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET

Journal of medical genetics, 2001-11, Vol.38 (11), p.784-787

2001

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138P Prevalence and characteristics of lung cancer in families harboring pathogenic germline variants in cancer predisposing genes

Annals of oncology, 2022-04, Vol.33, p.S95

2022

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Genetic testing of breast, ovarian and melanoma patients by a multigene panel: Role of moderate risk genes

Clinica chimica acta, 2019-06, Vol.493, p.S581-S582

2019

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Clinical characteristics, β-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies

Diabetic medicine, 2005-02, Vol.22 (2), p.137-143

2005

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Recomendaciones para la elaboración de informes genéticos de diagnóstico en el ámbito asistencial

Medicina clínica, 2019, Vol.153 (7), p.293-297

2019

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Screening of selected genomic areas potentially involved in thyroid neoplasms

European journal of cancer (1990), 2001-12, Vol.37 (18), p.2470-2474

2001

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The finding of a somatic deletion in RET exon 15 clarified the sporadic nature of a medullary thyroid carcinoma suspected to be familial

Journal of endocrinological investigation, 2002, Vol.25 (1), p.25-31

2002

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Collagen type Iα1 gene polymorphism in idiopathic osteoporosis in men

Rheumatology (Oxford, England), 2000-11, Vol.39 (11), p.1222-1225

2000

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Familial diabetes insipidus: early diagnostic by a molecular study

Annales d'endocrinologie, 2005-06, Vol.66 (3), p.306-306

2005

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Renin-Angiotensin System Genetic Polymorphisms and Salt Sensitivity in Essential Hypertension

Hypertension (Dallas, Tex. 1979), 2000-01, Vol.35 (1, Part 2 Suppl), p.512-512

2000

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Lack of association between ACE gene polymorphism and left ventricular hypertrophy in essential hypertension

Journal of human hypertension, 2000, Vol.14 (1), p.47-49

2000

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Adult-onset Atypical (type 1) diabetes: Additional insights and differences with type 1A diabetes in a European Mediterranean population

Diabetes care, 2004-05, Vol.27 (5), p.1108-1114

2004

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Angiotensin-converting enzyme gene polymorphism is associated with vulnerability to alcoholic cardiomyopathy

Annals of internal medicine, 2002-09, Vol.137 (5 Part 1), p.321

2002

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Angiotensin converting enzyme gene I/D polymorphism in essential hypertension and nephroangiosclerosis

Kidney international, 1998-06, Vol.53 (6), p.1743-1747

1998

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V804M RET mutation and familial medullary thyroid carcinoma: Report of a large family with expression of the disease only in the homozygous gene carriers

Surgery, 2002-05, Vol.131 (5), p.509-514

2002

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Postrenal transplant erythrocytosis and insertion/deletion polymorphism of the angiotensin converting enzyme gene

Transplantation proceedings, 1999-09, Vol.31 (6), p.2319-2320

1999

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Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder

Cirugía pediátrica, 2012-04, Vol.25 (2), p.87

2012

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Enhanced circadian rhythm of melatonin in anorexia nervosa

Acta endocrinologica (Copenhagen), 1989-05, Vol.120 (5), p.574

1989

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Young adult onset diabetes mellitus. Clinical differences between MODY-3 and type 2 diabetes mellitus

Medicina clínica, 2006-05, Vol.126 (17), p.651-652

2006

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Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity

Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe

Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context

Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes

Polymorphism of the tumor necrosis factor-alpha receptor 2 gene is associated with obesity, leptin levels, and insulin resistance in young subjects and diet-treated type 2 diabetic patients

Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene

Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET

138P Prevalence and characteristics of lung cancer in families harboring pathogenic germline variants in cancer predisposing genes

Genetic testing of breast, ovarian and melanoma patients by a multigene panel: Role of moderate risk genes

Clinical characteristics, β-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies

Recomendaciones para la elaboración de informes genéticos de diagnóstico en el ámbito asistencial

Screening of selected genomic areas potentially involved in thyroid neoplasms

The finding of a somatic deletion in RET exon 15 clarified the sporadic nature of a medullary thyroid carcinoma suspected to be familial

Collagen type Iα1 gene polymorphism in idiopathic osteoporosis in men

Familial diabetes insipidus: early diagnostic by a molecular study

Renin-Angiotensin System Genetic Polymorphisms and Salt Sensitivity in Essential Hypertension

Lack of association between ACE gene polymorphism and left ventricular hypertrophy in essential hypertension

Adult-onset Atypical (type 1) diabetes: Additional insights and differences with type 1A diabetes in a European Mediterranean population

Angiotensin-converting enzyme gene polymorphism is associated with vulnerability to alcoholic cardiomyopathy

Angiotensin converting enzyme gene I/D polymorphism in essential hypertension and nephroangiosclerosis

V804M RET mutation and familial medullary thyroid carcinoma: Report of a large family with expression of the disease only in the homozygous gene carriers

Postrenal transplant erythrocytosis and insertion/deletion polymorphism of the angiotensin converting enzyme gene

Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder

Enhanced circadian rhythm of melatonin in anorexia nervosa

Young adult onset diabetes mellitus. Clinical differences between MODY-3 and type 2 diabetes mellitus

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