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Lucía Sentchordi
Lucía Sentchordi
Facultativo Especialista en Pediatría, Hospital Universitario Infanta Leonor, Madrid
Verified email at salud.madrid.org
Title
Cited by
Cited by
Year
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
1272017
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
682018
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
582018
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
572013
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
422010
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
402018
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
192017
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
162021
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
162011
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
132016
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
112022
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
102021
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
102016
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
82020
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
52019
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
42020
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
32015
Vello escrotal en lactantes
L Sentchordi Montane, A Quintanar Rioja, L Ayala Bernardo de Quirós, ...
An. pediatr.(2003, Ed. impr.), 146-148, 2008
32008
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