Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Feb 3, 2021 | Crecimiento

Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, Beate Niesler. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 2007;44:306–313....

A Track Record on SHOX: FromBasic Research to Complex Models and Therapy

Feb 3, 2021 | Artículos

Antonio Marchini, Tsutomu Ogata, and Gudrun A. Rappold. A Track Record on SHOX: FromBasic Research to Complex Models and Therapy. Endocr Rev . 2016 Aug;37(4):417-48 Abstract: SHOX deficiency is the most frequent genetic growth disorder associated with isolated...

Impact of age at type 2 diabetes mellitus diagnosis on mortality and vascular complications: systematic review and meta-analyses

Ene 20, 2021 | Diabetes e Hipoglucemia

Natalie Nanayakkara & Andrea J. Curtis & Stephane Heritier & Adelle M. Gadowski & Meda E. Pavkov & Timothy Kenealy & David R. Owens & Rebecca L. Thomas & Soon Song & Jencia Wong & Juliana C.- N. Chan & Andrea O.-Y. Luk &...

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Ene 20, 2021 | Adrenales

Deborah P. Merke, M.D., and Richard J. Auchus, M.D., Ph.D. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. N Engl J Med 2020;383:1248-61. Abstract: Congenital adrenal hyperplasia (CAH) — one of the most common autosomal recessive disorders — is...

The Oral Glucose Tolerance Test: 100 Years Later

Ene 20, 2021 | Diabetes e Hipoglucemia

Ram Jagannathan, João Sérgio Neves, Brenda Dorcely, Stephanie T Chung,Kosuke Tamura, Mary Rhee, Michael Bergman The Oral Glucose Tolerance Test: 100 Years Later. Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2020:13 3787–3805 Abstract: For over 100...