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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34349-8
By:
- Grange, Laura J.;
- Reynolds, John J.;
- Ullah, Farid;
- Isidor, Bertrand;
- Shearer, Robert F.;
- Latypova, Xenia;
- Baxley, Ryan M.;
- Oliver, Antony W.;
- Ganesh, Anil;
- Cooke, Sophie L.;
- Jhujh, Satpal S.;
- McNee, Gavin S.;
- Hollingworth, Robert;
- Higgs, Martin R.;
- Natsume, Toyoaki;
- Khan, Tahir;
- Martos-Moreno, Gabriel Á.;
- Chupp, Sharon;
- Mathew, Christopher G.;
- Parry, David
Publication type:
Article
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 9, p. 1, doi. 10.15252/emmm.202013133
By:
- Argente, Jesús;
- Flores, Raquel;
- Gutiérrez‐Arumí, Armand;
- Verma, Bhupendra;
- Martos‐Moreno, Gabriel Á;
- Cuscó, Ivon;
- Oghabian, Ali;
- Chowen, Julie A;
- Frilander, Mikko J;
- Pérez‐Jurado, Luis A
Publication type:
Article
Response to growth hormone in patients with RNPC3 mutations.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 9, p. 1, doi. 10.15252/emmm.202013132
By:
- Martos‐Moreno, Gabriel Á;
- Travieso‐Suárez, Lourdes;
- Pozo‐Román, Jesús;
- Muñoz‐Calvo, María T;
- Chowen, Julie A;
- Frilander, Mikko J;
- Pérez‐Jurado, Luis A;
- Hawkins, Federico G;
- Argente, Jesús
Publication type:
Article
Response to growth hormone in patients with RNPC3 mutations.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 7, p. 1, doi. 10.15252/emmm.201809143
By:
- Martos‐Moreno, Gabriel Á;
- Travieso‐Suárez, Lourdes;
- Pozo‐Román, Jesús;
- Muñoz‐Calvo, María T.;
- Chowen, Julie A.;
- Frilander, Mikko J.;
- Pérez‐Jurado, Luis A.;
- Hawkins, Federico G.;
- Argente, Jesús
Publication type:
Article
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
Published in:
EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 363, doi. 10.15252/emmm.201506106
By:
- Dauber, Andrew;
- Muñoz‐Calvo, María T;
- Barrios, Vicente;
- Domené, Horacio M;
- Kloverpris, Soren;
- Serra‐Juhé, Clara;
- Desikan, Vardhini;
- Pozo, Jesús;
- Muzumdar, Radhika;
- Martos‐Moreno, Gabriel Á;
- Hawkins, Federico;
- Jasper, Héctor G;
- Conover, Cheryl A;
- Frystyk, Jan;
- Yakar, Shoshana;
- Hwa, Vivian;
- Chowen, Julie A;
- Oxvig, Claus;
- Rosenfeld, Ron G;
- Pérez‐Jurado, Luis A
Publication type:
Article
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
Published in:
EMBO Molecular Medicine, 2014, v. 6, n. 3, p. 299, doi. 10.1002/emmm.201303573
By:
- Argente, Jesús;
- Flores, Raquel;
- Gutiérrez‐Arumí, Armand;
- Verma, Bhupendra;
- Martos‐Moreno, Gabriel Á;
- Cuscó, Ivon;
- Oghabian, Ali;
- Chowen, Julie A;
- Frilander, Mikko J;
- Pérez‐Jurado, Luis A
Publication type:
Article
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
By:
- Gutierrez, Mariana;
- Thiffault, Isabelle;
- Guerrero, Kether;
- Martos-Moreno, Gabriel Á.;
- Tran, Luan T.;
- Benko, William;
- van der Knaap, Marjo S.;
- van Spaendonk, Rosalina M. L.;
- Wolf, Nicole I.;
- Bernard, Geneviève
Publication type:
Article
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
By:
- Gutierrez, Mariana;
- Thiffault, Isabelle;
- Guerrero, Kether;
- Martos-Moreno, Gabriel Á.;
- Tran, Luan T.;
- Benko, William;
- van der Knaap, Marjo S.;
- van Spaendonk, Rosalina M. L.;
- Wolf, Nicole I.;
- Bernard, Geneviève
Publication type:
Article
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Published in:
2015
By:
- Gutierrez, Mariana;
- Thiffault, Isabelle;
- Guerrero, Kether;
- Martos-Moreno, Gabriel A;
- Tran, Luan T;
- Benko, William;
- van der Knaap, Marjo S;
- van Spaendonk, Rosalina M L;
- Wolf, Nicole I;
- Bernard, Geneviève;
- Martos-Moreno, Gabriel Á
Publication type:
journal article
Increased IGFBP Proteolysis, IGF-I Bioavailability, and Pappalysin Levels in Children With Prader-Willi Syndrome.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. e1776, doi. 10.1210/clinem/dgad754
By:
- Barrios, Vicente;
- Martín-Rivada, Álvaro;
- Martos-Moreno, Gabriel Á;
- Canelles, Sandra;
- Moreno-Macián, Francisca;
- Mingo-Alemany, Carmen De;
- Delvecchio, Maurizio;
- Pajno, Roberta;
- Fintini, Danilo;
- Chowen, Julie A;
- Argente, Jesús
Publication type:
Article
Pappalysins and Stanniocalcins and Their Relationship With the Peripheral IGF Axis in Newborns and During Development.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 10, p. 2912, doi. 10.1210/clinem/dgac453
By:
- Martín-Rivada, Álvaro;
- Guerra-Cantera, Santiago;
- Campillo-Calatayud, Ana;
- Andrés-Esteban, Eva María;
- Holgado, María Sánchez;
- Martos-Moreno, Gabriel Á.;
- Pozo, Jesús;
- Güemes, María;
- Soriano-Guillén, Leandro;
- Pellicer, Adelina;
- Oxvig, Claus;
- Frystyk, Jan;
- Chowen, Julie A.;
- Barrios, Vicente;
- Argente, Jesús
Publication type:
Article
Evaluation of a multiplex assay for adipokine concentrations in obese children.
Published in:
Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 10, p. 1439, doi. 10.1515/CCLM.2010.276
By:
- Martos-Moreno, Gabriel Á.;
- Burgos-Ramos, Emma;
- Canelles, Sandra;
- Argente, Jesús;
- Barrios, Vicente
Publication type:
Article
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 601, doi. 10.1002/ajmg.a.37991
By:
- Tenorio, Jair;
- Álvarez, Ignacio;
- Riancho‐Zarrabeitia, Leyre;
- Martos‐Moreno, Gabriel Á.;
- Mandrile, Giorgia;
- de la Flor Crespo, Monserrat;
- Sukchev, Mikhail;
- Sherif, Mostafa;
- Kramer, Iza;
- Darnaude‐Ortiz, María T.;
- Arias, Pedro;
- Gordo, Gema;
- Dapía, Irene;
- Martinez‐Villanueva, Julián;
- Gómez, Rubén;
- Iturzaeta, José Manuel;
- Otaify, Ghada;
- García‐Unzueta, Mayte;
- Rubinacci, Alessandro;
- Riancho, José A.
Publication type:
Article
Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.
Published in:
2016
By:
- Teresa Muñoz-Calvo, María;
- Barrios, Vicente;
- Pozo, Jesús;
- Chowen, Julie A;
- Martos-Moreno, Gabriel Á;
- Hawkins, Federico;
- Dauber, Andrew;
- Domené, Horacio M;
- Yakar, Shoshana;
- Rosenfeld, Ron G;
- Pérez-Jurado, Luis A;
- Oxvig, Claus;
- Frystyk, Jan;
- Argente, Jesús;
- Muñoz-Calvo, María T
Publication type:
journal article
Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.
Published in:
PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006657
By:
- Serra-Juhé, Clara;
- Martos-Moreno, Gabriel Á.;
- Bou de Pieri, Francesc;
- Flores, Raquel;
- González, Juan R.;
- Rodríguez-Santiago, Benjamín;
- Argente, Jesús;
- Pérez-Jurado, Luis A.
Publication type:
Article
A Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding.
Published in:
PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0050894
By:
- Granell, Susana;
- Serra-Juhe, Clara;
- Martos-Moreno, Gabriel Á.;
- Díaz, Francisca;
- Pérez-Jurado, Luis A.;
- Baldini, Giulia;
- Argente, Jesús
Publication type:
Article
ACTUALIZACIÓN EN EL DIAGNÓSTICO Y TRATAMIENTO DE LAS OBESIDADES INFANTILES.
Published in:
Anales de la Real Academia Nacional de Medicina, 2024, v. 141, n. 2, p. 155, doi. 10.32440/ar.2024.141.02.rev07
By:
- Martos-Moreno, Gabriel Á.;
- Argente, Jesús
Publication type:
Article
MEDICINA DE PRECISIÓN EN LAS OBESIDADES INFANTILES.
Published in:
Anales de la Real Academia Nacional de Medicina, 2021, v. 138, n. 3, p. 221, doi. 10.32440/ar.2021.138.03.rev03
By:
- Martos-Moreno, Gabriel Á.;
- Argente, Jesús
Publication type:
Article
A combination of circulating chemokines as biomarkers of obesity‐induced insulin resistance at puberty.
Published in:
Pediatric Obesity, 2021, v. 16, n. 2, p. 1, doi. 10.1111/ijpo.12711
By:
- Rivera, Patricia;
- Martos‐Moreno, Gabriel Á.;
- Barrios, Vicente;
- Suárez, Juan;
- Pavón, Francisco J.;
- Chowen, Julie A.;
- Rodríguez de Fonseca, Fernando;
- Argente, Jesús
Publication type:
Article
Sex, puberty, and ethnicity have a strong influence on growth and metabolic comorbidities in children and adolescents with obesity: Report on 1300 patients (the Madrid Cohort).
Published in:
Pediatric Obesity, 2019, v. 14, n. 12, p. N.PAG, doi. 10.1111/ijpo.12565
By:
- Martos‐Moreno, Gabriel Á.;
- Martínez‐Villanueva, Julián;
- González‐Leal, Rocío;
- Chowen, Julie A.;
- Argente, Jesús
Publication type:
Article
Influence of prematurity and growth restriction on the adipokine profile, IGF1, and ghrelin levels in cord blood: relationship with glucose metabolism.
Published in:
European Journal of Endocrinology, 2009, v. 161, n. 3, p. 381, doi. 10.1530/EJE-09-0193
By:
- Gabriel Á Martos-Moreno
Publication type:
Article
Relationship between adiponectin levels, acylated ghrelin levels, and short-term body mass index changes in children with diabetes mellitus type 1 at diagnosis and after insulin therapy.
Published in:
European Journal of Endocrinology, 2006, v. 155, n. 5, p. 757, doi. 10.1530/eje.1.02273
By:
- Gabriel Á Martos-Moreno
Publication type:
Article
Normative data for adiponectin, resistin, interleukin 6, and leptin/receptor ratio in a healthy Spanish pediatric population: relationship with sex steroids.
Published in:
European Journal of Endocrinology, 2006, v. 155, n. 3, p. 429, doi. 10.1530/eje.1.02227
By:
- Gabriel Á Martos-Moreno
Publication type:
Article
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-022-02602-4
By:
- Forsythe, Elizabeth;
- Haws, Robert M.;
- Argente, Jesús;
- Beales, Philip;
- Martos-Moreno, Gabriel Á.;
- Dollfus, Hélène;
- Chirila, Costel;
- Gnanasakthy, Ari;
- Buckley, Brieana C.;
- Mallya, Usha G.;
- Clément, Karine;
- Haqq, Andrea M.
Publication type:
Article
A proteomic approach to obesity and type 2 diabetes.
Published in:
Journal of Cellular & Molecular Medicine, 2015, v. 19, n. 7, p. 1455, doi. 10.1111/jcmm.12600
By:
- López‐Villar, Elena;
- Martos‐Moreno, Gabriel Á.;
- Chowen, Julie A.;
- Okada, Shigeru;
- Kopchick, John J.;
- Argente, Jesús
Publication type:
Article
rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency.
Published in:
Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 200, doi. 10.1159/000486336
By:
- Hawkins-Carranza, Federico G.;
- Muñoz-Calvo, María T.;
- Martos-Moreno, Gabriel Á.;
- Allo-Miguel, Gonzalo;
- Del Río, Luis;
- Pozo, Jesús;
- Chowen, Julie A.;
- Pérez-Jurado, Luis A.;
- Argente, Jesús
Publication type:
Article
Las alteraciones metabólicas asociadas a la obesidad están ya presentes en los primeros años de vida: estudio colaborativo español.
Published in:
Nutrición Hospitalaria, 2014, v. 30, n. 4, p. 787, doi. 10.3305/nh.2014.30.4.7661
By:
- Martos-Moreno, Gabriel Á.;
- Gil-Campos, Mercedes;
- Bueno, Gloria;
- Bahillo, Pilar;
- Bernal, Susana;
- Feliu, Albert;
- Lechuga-Sancho, Alfonso M.;
- Palomo, Enrique;
- Ruiz, Rafael;
- Vela, Amaia
Publication type:
Article
Las alteraciones metabólicas asociadas a la obesidad están ya presentes en los primeros años de vida: estudio colaborativo español.
Published in:
2014
By:
- Martos-Moreno, Gabriel A;
- Gil-Campos, Mercedes;
- Bueno, Gloria;
- Bahillo, Pilar;
- Bernal, Susana;
- Feliu, Albert;
- Lechuga-Sancho, Alfonso M;
- Palomo, Enrique;
- Ruiz, Rafael;
- Vela, Amaia;
- Martos-Moreno, Gabriel Á;
- Grupo de Trabajo de Obesidad de la Sociedad Española de Endocrinología Pediátrica (SEEP)
Publication type:
journal article
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 7, p. 2735, doi. 10.1210/jc.2018-02335
By:
- Hofmann, Christine E.;
- Harmatz, Paul;
- Vockley, Jerry;
- Högler, Wolfgang;
- Hideki Nakayama;
- Bishop, Nick;
- Martos-Moreno, Gabriel Á.;
- Moseley, Scott;
- Fujita, Kenji P.;
- Liese, Johannes;
- Rockman-Greenberg, Cheryl
Publication type:
Article
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.
Published in:
2019
By:
- Hofmann, Christine E;
- Harmatz, Paul;
- Vockley, Jerry;
- Högler, Wolfgang;
- Nakayama, Hideki;
- Bishop, Nick;
- Martos-Moreno, Gabriel Á;
- Moseley, Scott;
- Fujita, Kenji P;
- Liese, Johannes;
- Rockman-Greenberg, Cheryl;
- ENB-010-10 Study Group
Publication type:
journal article
Effect of Weight Loss on High-Molecular Weight Adiponectin in Obese Children.
Published in:
Obesity (19307381), 2010, v. 18, n. 12, p. 2288, doi. 10.1038/oby.2010.68
By:
- Martos-Moreno, Gabriel Á.;
- Barrios, Vicente;
- Martínez, Guillermo;
- Hawkins, Federico;
- Argente, Jesús
Publication type:
Article
Unveiling Metabolic Phenotype Alterations in Anorexia Nervosa through Metabolomics.
Published in:
Nutrients, 2021, v. 13, n. 12, p. 4249, doi. 10.3390/nu13124249
By:
- Mayo-Martínez, Laura;
- Rupérez, Francisco J.;
- Martos-Moreno, Gabriel Á.;
- Graell, Montserrat;
- Barbas, Coral;
- Argente, Jesús;
- García, Antonia
Publication type:
Article
Conservative Treatment for Childhood and Adolescent Obesity: Real World Follow-Up Profiling and Clinical Evolution in 1300 Patients.
Published in:
Nutrients, 2021, v. 13, n. 11, p. 3847, doi. 10.3390/nu13113847
By:
- Martos-Moreno, Gabriel Á.;
- Martínez-Villanueva Fernández, Julián;
- Frías-Herrero, Alicia;
- Martín-Rivada, Álvaro;
- Argente, Jesús
Publication type:
Article
Bone Mineral Density, Body Composition, and Metabolic Health of Very Low Birth Weight Infants Fed in Hospital Following Current Macronutrient Recommendations during the First 3 Years of Life.
Published in:
Nutrients, 2021, v. 13, n. 3, p. 1005, doi. 10.3390/nu13031005
By:
- Mihatsch, Walter;
- Dorronsoro Martín, Izaskun;
- Barrios-Sabador, Vicente;
- Couce, María L.;
- Martos-Moreno, Gabriel Á.;
- Argente, Jesús;
- Quero, José;
- Saenz de Pipaon, Miguel;
- Weaver, Connie
Publication type:
Article
Insulin Resistance in Obese Children: What Can Metabolomics and Adipokine Modelling Contribute?
Published in:
Nutrients, 2020, v. 12, n. 11, p. 3310, doi. 10.3390/nu12113310
By:
- Rupérez, Francisco J.;
- Martos-Moreno, Gabriel Á.;
- Chamoso-Sánchez, David;
- Barbas, Coral;
- Argente, Jesús
Publication type:
Article
Proteomic analysis allows for early detection of potential markers of metabolic impairment in very young obese children.
Published in:
International Journal of Pediatric Endocrinology, 2014, v. 2014, n. 1, p. 1, doi. 10.1186/1687-9856-2014-9
By:
- Martos-Moreno, Gabriel Á;
- Sackmann-Sala, Lucila;
- Barrios, Vicente;
- Berrymann, Darlene E.;
- Okada, Shigeru;
- Argente, Jesús;
- Kopchick, John J.
Publication type:
Article

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