Miriam Aza‐Carmona

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

Sara Benito‐Sanz, N. Simon Thomas, Céline Huber et al. · The American Journal of Human Genetics · 2005 · 133 citations · Full text

Pathogenesis, Histopathology, Pathology +7

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Gabriela A. Vasques, Mariana F.A. Funari, Frederico Moraes Ferreira et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 72 citations · Full text

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi et al. · Genetics in Medicine · 2017 · 66 citations · Full text

Human Growth, Novel Cause, Genetics +4

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Sara Benito‐Sanz, Miriam Aza‐Carmona, Amaya Rodríguez-Estevez et al. · European Journal of Human Genetics · 2011 · 51 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +8