M. Caimarí

发表

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.

ACTYBOSS: Activity, Behavioral Therapy in Young Subjects – After-School Intervention Pilot Project on Obesity Prevention

B. Burguera, M. Couce, A. Aguiló, 2011, Obesity Facts.

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.

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

M. Dattani, F. Bilan, M. McCabe, 2013, The Journal of clinical endocrinology and metabolism.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

A. Zinn, D. Heine-Suñer, P. Lapunzina, 2011, The Journal of clinical endocrinology and metabolism.

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

C. Flück, N. Camats, M. Fernández-Cancio, 2014, PloS one.

Further observations in haemorrhagic shock and encephalopathy syndrome.

J. Reynes, J. Hervás, M. Caimarí, 1986, Helvetica paediatrica acta.

Glycated hemoglobin and sleep apnea syndrome in children: beyond the apnea–hypopnea index

M. Peña, A. Yáñez, M. de la Peña, 2018, Sleep and Breathing.

Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.

J. Argente, V. Barrios, Á. Campos-Barros, 2008, The Journal of clinical endocrinology and metabolism.

Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome

J. Carlos, A. Rosell, N. Matamoros, 2013, Pediatric dermatology.

Achievement of metabolic control among children and adolescents with type 1 diabetes in Spain

M. Clemente, I. Rica, R. Barrio, 2017, Acta Diabetologica.

Physical activity patterns in type 1 diabetes in Spain: The SED1 study

F. Tinahones, S. Gaztambide, I. Conget, 2023, BMC Sports Science, Medicine and Rehabilitation.

Pheochromocytoma and Clear-Cell Renal Carcinoma in a Child with von Hippel-Lindau Disease: A Patient Report

M. Caimarí, F. Alonso, J. Ferragut, 1999, Journal of pediatric endocrinology & metabolism : JPEM.

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

M. Dattani, F. Bilan, M. McCabe, 2013, Journal of Clinical Endocrinology and Metabolism.