Search Results - "López-Siguero, Juan Pedro" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

by Parween, Shaheena, Fernández-Cancio, Mónica, Benito-Sanz, Sara, Camats, Núria, Rojas Velazquez, Maria Natalia, López-Siguero, Juan-Pedro, Udhane, Sameer S, Kagawa, Norio, Flück, Christa E, Audí, Laura, Pandey, Amit V
Published in The journal of clinical endocrinology and metabolism (01.04.2020)

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Social Economic Costs of Type 1 Diabetes Mellitus in Pediatric patients in Spain: CHRYSTAL Observational Study

Social Economic Costs of Type 1 Diabetes Mellitus in Pediatric patients in Spain: CHRYSTAL Observational Study

by López-Bastida, Julio, Pedro López-Siguero, Juan, Oliva-Moreno, Juan, Perez-Nieves, Magaly, RenataVilloro, Dilla, Tatiana, Merino, María, Jiang, Dingfeng, Aranda-Reneo, Isaac, Reviriego, Jesús, AlbertoVázquez, Luis
Published in Diabetes research and clinical practice (01.05.2017)

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Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

by Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Mullis, Primus E, Moreno, Francisca, González Casado, Isabel, López-Siguero, Juan Pedro, Corripio, Raquel, Bermúdez de la Vega, José Antonio, Blanco, José Antonio, Flück, Christa E
Published in PloS one (16.11.2015)

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The views of teenagers with obesity, their caregivers, and doctors: a plain language summary of the ACTION Teens global survey

The views of teenagers with obesity, their caregivers, and doctors: a plain language summary of the ACTION Teens global survey

by Mooney, Vicki, Baur, Louise A, Bereket, Abdullah, Bin-Abbas, Bassam, Chen, Walter, Fernández-Aranda, Fernando, Nieto, Nayely Garibay, López Siguero, Juan Pedro, Maffeis, Claudio, Osorto, Cynthia Karenina, Reynoso, Ricardo, Rhie, Young-Jun, Toro-Ramos, Martín, Halford, Jason Cg
Published in Journal of comparative effectiveness research (01.01.2023)

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CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

by Romanelli, Valeria, Belinchón, Alberta, Benito-Sanz, Sara, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, Heath, Karen E., Campos-Barros, Angel, García-Miñaur, Sixto, Fernandez, Luís, Meneses, Heloisa, López-Siguero, Juan Pedro, Guillén-Navarro, Encarna, Gómez-Puertas, Paulino, Wesselink, Jan-Jaap, Mercado, Graciela, Esteban-Marfil, Victoria, Palomo, Rebeca, Mena, Rocío, Sánchez, Aurora, del Campo, Miguel, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.06.2010)

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The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

by Monteagudo-Sánchez, Ana, Hernandez Mora, Jose Ramon, Simon, Carlos, Burton, Adam, Tenorio, Jair, Lapunzina, Pablo, Clark, Stephen, Esteller, Manel, Kelsey, Gavin, López-Siguero, Juan Pedro, de Nanclares, Guiomar Perez, Torres-Padilla, Maria-Elena, Monk, David
Published in Nucleic acids research (18.11.2020)

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Improvement in Growth after Two Years of Growth Hormone Therapy in Very Young Children Born Small for Gestational Age and without Spontaneous Catch-Up Growth: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial

Improvement in Growth after Two Years of Growth Hormone Therapy in Very Young Children Born Small for Gestational Age and without Spontaneous Catch-Up Growth: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial

by Argente, Jesús, Gracia, Ricardo, Ibáñez, Lourdes, Oliver, Antonio, Borrajo, Emilio, Vela, Amaya, López-Siguero, Juan Pedro, Moreno, M. Llanos, Rodríguez-Hierro, Francisco
Published in The journal of clinical endocrinology and metabolism (01.08.2007)

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Misalignment among adolescents living with obesity, caregivers, and healthcare professionals: ACTION Teens global survey study

Misalignment among adolescents living with obesity, caregivers, and healthcare professionals: ACTION Teens global survey study

by Halford, Jason C. G., Bereket, Abdullah, Bin‐Abbas, Bassam, Chen, Walter, Fernández‐Aranda, Fernando, Garibay Nieto, Nayely, López Siguero, Juan Pedro, Maffeis, Claudio, Mooney, Vicki, Osorto, Cynthia Karenina, Reynoso, Ricardo, Rhie, Young‐Jun, Toro‐Ramos, Martín, Baur, Louise A.
Published in Pediatric obesity (01.11.2022)

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Factors influencing height gain in children born small for gestational age treated with recombinant growth hormone: what extent is puberty involved?

Factors influencing height gain in children born small for gestational age treated with recombinant growth hormone: what extent is puberty involved?

by Arroyo Ruiz, Ramón, Ballester Pérez, Aránzazu, Leiva-Gea, Isabel, Martínez-Aedo, MªJosé, López-Siguero, Juan Pedro
Published in Therapeutic advances in endocrinology and metabolism (01.04.2022)

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Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH

Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH

by Arroyo-Ruiz, Ramón, Urbano-Ruiz, Cristina, García-Berrocal, María Belén, Marcos-Vadillo, Elena, Isidoro-García, María, Martín-Alonso, M. Montserrat, Bajo-Delgado, Ana Fe, Prieto-Matos, Pablo, López-Siguero, Juan Pedro
Published in Journal of clinical medicine (09.07.2024)

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Pediatric Type 1 Diabetes: Is Age at Onset a Determining Factor in Advanced Hybrid Closed-Loop Insulin Therapy?

Pediatric Type 1 Diabetes: Is Age at Onset a Determining Factor in Advanced Hybrid Closed-Loop Insulin Therapy?

by Lendínez-Jurado, Alfonso, López-Siguero, Juan Pedro, Gómez-Perea, Ana, Ariza-Jiménez, Ana B, Becerra-Paz, Icía, Tapia-Ceballos, Leopoldo, Cruces-Ponce, Carmen, Jiménez-Hinojosa, José Manuel, Morcillo, Sonsoles, Leiva-Gea, Isabel
Published in Journal of clinical medicine (01.11.2023)

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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

by Carcavilla, Atilano, Cambra, Ana, Santomé, José L, Seidel, Verónica, Cruz, Jaime, Alonso, Milagros, Pozo, Jesús, Valenzuela, Irene, Guillén-Navarro, Encarna, Santos-Simarro, Fernando, González-Casado, Isabel, Rodríguez, Amparo, Medrano, Constancio, López-Siguero, Juan Pedro, Ezquieta, Begoña
Published in Journal of clinical medicine (29.07.2023)

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

by Tartaglia, Marco, Gelb, Bruce D, Pennacchio, Len A, Zhao, Chen, Yadav, Kamlesh K, Fodale, Valentina, Sarkozy, Anna, Pandit, Bhaswati, Oishi, Kimihiko, Martinelli, Simone, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joel, Bristow, James, Carta, Claudio, Lepri, Francesca, Neri, Cinzia, Vasta, Isabella, Gibson, Kate, Curry, Cynthia J, Siguero, Juan Pedro López, Digilio, Maria Cristina, Zampino, Giuseppe, Dallapiccola, Bruno, Bar-Sagi, Dafna
Published in Nature genetics (01.01.2007)

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Ten years' clinical experience with biosimilar human growth hormone: a review of efficacy data

Ten years' clinical experience with biosimilar human growth hormone: a review of efficacy data

by López-Siguero, Juan Pedro, Pfäffle, Roland, Chanson, Philippe, Szalecki, Mieczyslaw, Höbel, Nadja, Zabransky, Markus
Published in Drug design, development and therapy (01.01.2017)

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Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns

Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns

by Yahyaoui, Raquel, Jiménez-Machado, Rocío, López Siguero, Juan Pedro
Published in Anales de Pediatría (01.01.2020)

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Monitoring of the treatment of hypogonadotropic hypogonadism in the infant

Monitoring of the treatment of hypogonadotropic hypogonadism in the infant

by Álvarez Casaño, María, López Siguero, Juan Pedro
Published in Anales de Pediatría (01.03.2019)

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Letter to the Editor From Arroyo et al: “Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone”

Letter to the Editor From Arroyo et al: “Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone”

by Arroyo Ruiz, Ramón, Leiva-Gea, Isabel, López-Siguero, Juan Pedro
Published in The journal of clinical endocrinology and metabolism (18.09.2023)

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Evidence for Genetic Heterogeneity of Pseudohypoaldosteronism Type 1: Identification of a Novel Mutation in the Human Mineralocorticoid Receptor in one Sporadic Case and No Mutations in Two Autosomal Dominant Kindreds

Evidence for Genetic Heterogeneity of Pseudohypoaldosteronism Type 1: Identification of a Novel Mutation in the Human Mineralocorticoid Receptor in one Sporadic Case and No Mutations in Two Autosomal Dominant Kindreds

by Viemann, Matthias, Peter, Michael, López-Siguero, Juan Pedro, Simic-Schleicher, Gunter, Sippell, Wolfgang G
Published in The journal of clinical endocrinology and metabolism (01.05.2001)

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A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway

A Novel Dysfunctional Growth Hormone Variant (Ile179Met) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway

by Lewis, Mark D, Horan, Martin, Millar, David S, Newsway, Vicky, Easter, Tammy E, Fryklund, Linda, Gregory, John W, Norin, Martin, Del Valle, Cristóbal-Jorge, López-Siguero, Juan Pedro, Cañete, Ramón, López-Canti, Luis Fernando, Díaz-Torrado, Nieves, Espino, Rafael, Ulied, Angels, Scanlon, Maurice F, Procter, Annie M, Cooper, David N
Published in The journal of clinical endocrinology and metabolism (01.03.2004)

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Attitudes, Behaviors, and Barriers among Adolescents Living with Obesity, Caregivers, and Healthcare Professionals in Spain: ACTION Teens Survey Study

Attitudes, Behaviors, and Barriers among Adolescents Living with Obesity, Caregivers, and Healthcare Professionals in Spain: ACTION Teens Survey Study

by López Siguero, Juan Pedro, Ramon-Krauel, Marta, Pérez López, Gilberto, Buiza Fernández, Maria Victoria, Assaf Balut, Carla, Fernández-Aranda, Fernando
Published in Nutrients (30.06.2023)

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