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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Pediatric diabetes, 2018-10, Vol.19 Suppl 27 (S27), p.47-63

2018

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Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

EMBO molecular medicine, 2009-08, Vol.1 (5), p.280-287

2009

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Early diagnosis of CAPOS syndrome before acute-onset ataxia - review of the literature and a new family

Pediatric neurology, 2017-06, Vol.71, p.60-64

2017

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Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options

Hormone research in paediatrics, 2013-01, Vol.80 (3), p.137-146

2013

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The diagnosis and management of monogenic diabetes in children and adolescents

Pediatric diabetes, 2014-09, Vol.15 (S20), p.47-64

2014

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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Journal of the American Society of Nephrology, 2017-08, Vol.28 (8), p.2529-2539

2017

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

Proceedings of the National Academy of Sciences - PNAS, 2010-02, Vol.107 (7), p.3105-3110

2010

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Permanent neonatal diabetes mellitus - the importance of diabetes differential diagnosis in neonates and infants

European journal of clinical investigation, 2011-03, Vol.41 (3), p.323-333

2011

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Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

The journal of clinical endocrinology and metabolism, 2009-11, Vol.94 (11), p.4162-4170

2009

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Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

Diabetes care, 2009, Vol.32 (1), p.111-116

2009

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Diagnosing monogenic diabetes: common misinterpretations of genetic findings

Pediatric diabetes, 2009-12, Vol.10 (8), p.497-499

Rubio-Cabezas, Oscar

2009

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PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

The journal of clinical endocrinology and metabolism, 2012-12, Vol.97 (12), p.E2328-E2338

2012

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Early‐onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene

Pediatric diabetes, 2012-09, Vol.13 (6), p.e26-e29

2012

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Current Insights into the Genetic Basis of Diabetes Mellitus in Children and Adolescents

Journal of Pediatric Endocrinology and Metabolism, 2008-10, Vol.21 (10), p.917-940

2008

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Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide

Diabetes care, 2009-08, Vol.32 (8), p.1428-1430

2009

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Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

Diabetes (New York, N.Y.), 2011-04, Vol.60 (4), p.1349-1353

2011

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Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

Diabetes (New York, N.Y.), 2010-09, Vol.59 (9), p.2326-2331

2010

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Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

Cell metabolism, 2014-01, Vol.19 (1), p.146-154

2014

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Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency

The journal of clinical endocrinology and metabolism, 2016-10, Vol.101 (10), p.3555-3558

2016

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Neurogenin 3 is important but not essential for pancreatic islet development in humans

Diabetologia, 2014-11, Vol.57 (11), p.2421-2424

2014

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KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life

Pediatric diabetes, 2012-06, Vol.13 (4), p.322-325

2012

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Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

European journal of pediatrics, 2014-12, Vol.173 (12), p.1565-1568

2014

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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Pediatric diabetes, 2018-10, Vol.19, p.47-63

2018

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Diabetes mellitus en la infancia: una enfermedad heterogénea

Medicina clínica, 2007-04, Vol.128 (16), p.627-633

2007

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Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide: A previously unreported side effect

Diabetes care, 2009-08, Vol.32 (8), p.1428-1430

2009

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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

Early diagnosis of CAPOS syndrome before acute-onset ataxia - review of the literature and a new family

Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options

The diagnosis and management of monogenic diabetes in children and adolescents

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

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

Permanent neonatal diabetes mellitus - the importance of diabetes differential diagnosis in neonates and infants

Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

Diagnosing monogenic diabetes: common misinterpretations of genetic findings

PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Early‐onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene

Current Insights into the Genetic Basis of Diabetes Mellitus in Children and Adolescents

Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency

Neurogenin 3 is important but not essential for pancreatic islet development in humans

KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life

Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Diabetes mellitus en la infancia: una enfermedad heterogénea

Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide: A previously unreported side effect

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