A. Cattani

发表

A Unique Insertion/Substitution in Helix H1 of the Vitamin D Receptor Ligand Binding Domain in a Patient With Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets

P. Malloy, D. Feldman, M. L. Reyes, 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia.

M. Lagos, N. Rojas, A. Martínez-Aguayo, 2007, The Journal of clinical endocrinology and metabolism.

Bone metabolism in children with epidermolysis bullosa.

J. McGrath, F. Palisson, M. L. Reyes, 2002, The Journal of pediatrics.

Mutations in the CYP21B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia

C. Fardella, J. Soto, A. Foradori, 2000 .

Breast US in children and adolescents.

A. Daneman, O. Navarro, C. García, 2000, Radiographics : a review publication of the Radiological Society of North America, Inc.

Y Chromosome Sequences in Turner's Syndrome: Association with Virilization and Gonadoblastoma

G. Repetto, A. Foradori, H. Poggi, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.

C. Fardella, P. Pineda, J. Soto, 1998, The Journal of clinical endocrinology and metabolism.

A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.

Tomas Pérez-Acle, T. Pérez-Acle, Angel González, 2008, The Journal of clinical endocrinology and metabolism.

[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].

G. Repetto, A. Foradori, Cristián García, 2003, Revista medica de Chile.

[Clinical and molecular study of Chilean patients with McCune-Albright syndrome].

V. Mericq, E. Codner, R. Schneider, 2001, Revista medica de Chile.

[Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation].

C. Carvajal, L. Mosso, C. Fardella, 2008, Revista medica de Chile.

[Measurement of 17 OH progesterone in blood in Chilean newborns: antecedents for implementing a grogram for the neonatal detection of congenital adrenal hyperplasia].

M. L. Reyes, J. Soto, A. Foradori, 2000, Revista medica de Chile.

[Persistent neonatal hyperinsulinism. Analysis of the differential diagnosis. Report of two cases].

M. I. Hodgson, A. Cattani, M. Hernández, 2004, Revista médica de Chile (Impresa).

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects

V. Mericq, H. García, M. Lagos, 2015, Hormone Research in Paediatrics.

[Bone turnover in lactating adolescent: evaluation at the end of pregnancy, during and after the weaning period].

L. Mosso, T. Zubarew, A. Cattani, 2000, Revista medica de Chile.

A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I

M. Lagos, A. Martínez-Aguayo, H. Poggi, 2014, Journal of pediatric endocrinology & metabolism : JPEM.