María Caimari

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index512citations25works19.52yr avg
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Research Topics

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(5), Hyperglycemia and glycemic control in critically ill and hospitalized patients(4), Diabetes Management and Research(3), Diabetes and associated disorders(3), Tracheal and airway disorders(3)

Publications25 total

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
EBioMedicine·2025· 4 citedOpen Access
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
EBioMedicine·2024· 35 citedOpen Access
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in <i>ABCC8</i>
The Journal of Clinical Endocrinology & Metabolism·2023· 9 cited
Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8-Supplemental Data
Zenodo (CERN European Organization for Nuclear Research)·2023· 1 citedOpen Access
Glycated hemoglobin and sleep apnea syndrome in children: beyond the apnea–hypopnea index
Sleep And Breathing·2017· 9 cited
Achievement of metabolic control among children and adolescents with type 1 diabetes in Spain
Acta Diabetologica·2017· 7 cited
Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis
PLoS ONE·2014· 44 citedOpen Access
Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, <scp>X</scp>‐Linked Syndrome
Pediatric Dermatology·2013· 19 cited
Structural Pituitary Abnormalities Associated With CHARGE Syndrome
The Journal of Clinical Endocrinology & Metabolism·2013· 44 citedOpen Access
Guidelines for Authors
Obesity Facts·2011Open Access
Vol. 4, Issue 5, October 2011
Obesity Facts·2011Open Access
ACTYBOSS: Activity, Behavioral Therapy in Young Subjects – After-School Intervention Pilot Project on Obesity Prevention
Obesity Facts·2011· 15 citedOpen Access
Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)
The Journal of Clinical Endocrinology & Metabolism·2010· 74 citedOpen Access
Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development
The Journal of Clinical Endocrinology & Metabolism·2010· 145 citedOpen Access
The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP‐binding residue
Diabetic Medicine·2009· 17 citedOpen Access
Primary Acid-Labile Subunit Deficiency due to Recessive<i>IGFALS</i>Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia
The Journal of Clinical Endocrinology & Metabolism·2008· 70 citedOpen Access
Pheochromocytoma and Clear-Cell Renal Carcinoma in a Child with von Hippel-Lindau Disease: A Patient Report
Journal of Pediatric Endocrinology and Metabolism·1999· 9 cited
Fístula broncoesofágica tuberculosa en edad pediátrica: presentación de un caso y revisión de la literatura
Medicina balear·1990
Síndrome de megavejiga, microcolon e hipoperistaltismo intestinal: A propósito de un caso
Anales de Pediatría·1988
Hernia hiatal gigante congénita: A propósito de dos casos
Anales de Pediatría·1988
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Frequent Co-authors

Núria Camats(5), Mónica Fernández‐Cancio(4), Luís Castaño(4), Ariadna Campos-Martorell(4), Aina M. Yáñez(4), Laura Audí(3), Diego Yeste(3), Emilio García García(3), Karen E. Heath(3), Jana Malíková(3), Christa E. Flück(3), Bartolomé Burguera(3), Antoni Colom(3), Estefanía Piñero(3), Juan Tur(3), Marga Frontera(3), Marta Couce(3), Esther Cardo(3), Antoni Aguiló(3), Antoni Burguera(3)