Lucia Sentchordi

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and <i>GNAS</i> imprinting defects

Beatriz Lecumberri, Eduardo Fernández‐Rebollo, Lucia Sentchordi et al. · Journal of Medical Genetics · 2009 · 38 citations · Full text

Life Sciences, Endocrinology, Genetics +15

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona et al. · European Journal of Endocrinology · 2021 · 25 citations · Full text

Life Sciences, Genetics, Pediatrics +17