Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations A Gkourogianni, M Andrew, L Tyzinski, M Crocker, J Douglas, N Dunbar, ... The Journal of Clinical Endocrinology & Metabolism 102 (2), 460-469, 2017 | 127 | 2017 |
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature A Hisado-Oliva, A Ruzafa-Martin, L Sentchordi, MFA Funari, ... Genetics in Medicine 20 (1), 91-97, 2018 | 68 | 2018 |
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy GA Vasques, MFA Funari, FM Ferreira, M Aza-Carmona, ... The Journal of Clinical Endocrinology & Metabolism 103 (2), 604-614, 2018 | 58 | 2018 |
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism. CL Fernández-Rebollo E, Lecumberri B, Gaztambide S, Martinez-Indart L, Perez ... J Clin Endocrinol Metab 98 (5), E 996-1006, 2013 | 57 | 2013 |
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to alterations at the GNAS locus GI Zazo C, Thiele S, Martín C, Fernandez-Rebollo E, Martinez-Indart L, Werner R J Bone Miner Res 26 (8), 1864-70, 2011 | 56* | 2011 |
Enfermedad de Kawasaki SML Molina Amores C Acta Pediatrica Española, 330-332, 2009 | 52* | 2009 |
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects B Lecumberri, E Fernandez-Rebollo, L Sentchordi, P Saavedra, ... Journal of medical genetics 47 (4), 276-280, 2010 | 42 | 2010 |
Heterozygous aggrecan variants are associated with short stature and brachydactyly: description of 16 probands and a review of the literature L Sentchordi‐Montané, M Aza‐Carmona, S Benito‐Sanz, ... Clinical endocrinology 88 (6), 820-829, 2018 | 40 | 2018 |
Broadening the phenotypic spectrum of POP-1 skeletal dysplasias: identification of POP-1 mutations in a mild and severe skeletal dysplasia. HKE Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez ... Clin Genet 92 (1), 91-98, 2017 | 19 | 2017 |
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies L Sentchordi-Montané, S Benito-Sanz, M Aza-Carmona, F Díaz-González, ... European Journal of Endocrinology 185 (5), 691-705, 2021 | 16 | 2021 |
Identification of a Gypsy SHOX mutation (p. A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia V Barca-Tierno, M Aza-Carmona, E Barroso, D Heine-Suner, D Azmanov, ... European journal of human genetics 19 (12), 1218-1225, 2011 | 16 | 2011 |
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations J Barraza‐García, C Iván Rivera‐Pedroza, L Salamanca, A Belinchón, ... American Journal of Medical Genetics Part A 170 (1), 210-216, 2016 | 13 | 2016 |
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia F Díaz-González, S Wadhwa, M Rodriguez-Zabala, S Kumar, ... Journal of Medical Genetics 59 (1), 28-38, 2022 | 11 | 2022 |
Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice L Sentchordi‐Montané, F Diaz‐Gonzalez, EV Cátedra‐Vallés, KE Heath Clinical Genetics 99 (2), 309-312, 2021 | 10 | 2021 |
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported LS Montané, OR Marín, CI Rivera‐Pedroza, E Vallespín, Á Del Pozo, ... American Journal of Medical Genetics Part A 170 (6), 1595-1599, 2016 | 10 | 2016 |
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants L Sentchordi-Montané, S Benito-Sanz, M Aza-Carmona, A Pereda, ... The Journal of Clinical Endocrinology & Metabolism 105 (8), 2654-2666, 2020 | 8 | 2020 |
SHOX deficiency in Argentinean cohort: long-term auxological follow-up and a family's new mutation M Del Pino, M Aza-Carmona, D Medino-Martín, A Gomez, KE Heath, ... Journal of Pediatric Genetics 8 (03), 123-132, 2019 | 5 | 2019 |
Improvisation in times of pandemic, a reason for reflection MAA Troya J, Seijo LM, Pérez M, Sentchordi-Montane L International Journal of Infectious Diseases 96, 361-632, 2020 | 4 | 2020 |
Caracterización clínica, bioquímica y molecular de pacientes con hiperplasia suprarrenal congénita no clásica C Bezanilla, L Sentchordi Rev Esp Endocrinol Pediatr [revista en Internet] 6 (1), 2015 | 3 | 2015 |
Vello escrotal en lactantes L Sentchordi Montane, A Quintanar Rioja, L Ayala Bernardo de Quirós, ... An. pediatr.(2003, Ed. impr.), 146-148, 2008 | 3 | 2008 |