Resultats globals: 13 registres trobats en 0.02 segons.
Articles, 11 registres trobats
Documents de recerca, 2 registres trobats
Articles 11 registres trobats  1 - 10següent  anar al registre:
1.
10 p, 1.1 MB Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis / García-Castaño, Alejandro (Biocruces Bizkaia Research Institute) ; Perdomo-Ramirez, Ana (Hospital Universitario Nuestra Señora de Candelaria) ; Vall-Palomar, Mònica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ramos-Trujillo, Elena (Hospital Universitario Nuestra Señora de Candelaria) ; Madariaga, Leire (UPV/EHU. Cruces University Hospital) ; Ariceta, Gema (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Claverie-Martin, Felix (Hospital Universitario Nuestra Señora de Candelaria)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, and progressive chronic renal failure in childhood or adolescence. [...]
2020 - 10.1002/mgg3.1475
Molecular genetics & genomic medicine, Vol. 8 (september 2020)  
2.
12 p, 1.2 MB Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population / Rodríguez-Rubio, Enrique (University of Oviedo. Pediatric Research, Medicine Department) ; Gil-Peña, Helena (Hospital Universitario Central de Asturias. AGC Pediatría) ; Chocron, Sara (Hospital Universitari Vall d'Hebron) ; Madariaga, Leire (BioCruces Health Research Institute) ; de la Cerda-Ojeda, Francisco (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Fernández-Fernández, Marta (Complejo Asistencial Universitario de León. Servicio Pediatría) ; de Lucas-Collantes, Carmen (Hospital Niño Jesús. Servicio Nefrología) ; Gil, Marta (Hospital Universitario de Santiago de Compostela. Servicio Pediatría) ; Luis-Yanes, María Isabel (Hospital Universitario Nuestra Señora de Candelaria. Servicio Pediatría) ; Vergara, Inés (Complexo Hospitalario Universitario A Coruña (CHUAC). Servicio Pediatría) ; González-Rodríguez, Juan David (Hospital General Universitario Santa Lucia. Unidad de Nefrología) ; Ferrando, Susana (Hospital Clínic Universitari (València)) ; Antón-Gamero, Montserrat (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Carrasco Hidalgo-Barquero, Marta (Unidad de Nefrología Pediátrica, Hospital Universitario de Badajoz) ; Fernández-Escribano, Angustias (Hospital Gregorio Marañón (Madrid)) ; Fernández-Maseda, Mº Ángeles (Hospital Virgen de la Salud. Unidad de Nefrología Pediátrica) ; Espinosa, Laura (Hospital Universitario infantil La Paz (Madrid)) ; Oliet, Aniana (Hospital Severo Ochoa. Servicio Nefrología) ; Vicente, Antonio (Hospital Vega Baja. Servicio Pediatría) ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Santos, Fernando (Hospital Universitario Central de Asturias. AGC Pediatría) ; Universitat Autònoma de Barcelona
X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. [...]
2021 - 10.1186/s13023-021-01729-0
Orphanet Journal of Rare Diseases, Vol. 16 (february 2021)  
3.
10 p, 625.3 KB Challenges in primary focal segmental glomerulosclerosis diagnosis : from the diagnostic algorithm to novel biomarkers / Jacobs-Cachá, Conxita (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vergara, Ander (Hospital Universitari Vall d'Hebron) ; García-Carro, Clara (Red de Investigación Renal) ; Agraz Pamplona, Irene (Red de Investigación Renal) ; Toapanta-Gaibor, Nestor (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Moreso, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Serón, Daniel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; López-Hellín, Joan (Hospital Universitari Vall d'Hebron) ; Soler, María José (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Primary or idiopathic focal segmental glomerulosclerosis (FSGS) is a kidney entity that involves the podocytes, leading to heavy proteinuria and in many cases progresses to end-stage renal disease. Idiopathic FSGS has a bad prognosis, as it involves young individuals who, in a considerably high proportion (∼15%), are resistant to corticosteroids and other immunosuppressive treatments as well. [...]
2020 - 10.1093/ckj/sfaa110
Clinical Kidney Journal, Vol. 14 (august 2020) , p. 482-491  
4.
9 p, 1.7 MB Establishment of urinary exosome-like vesicles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extraction methods / Vall-Palomar, Mònica. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Arévalo, J. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ariceta, Gema. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Meseguer, A. (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Molecular and cellular pathophysiological events occurring in the majority of rare kidney diseases remain to be elucidated. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder caused by mutations in either CLDN16 or CLDN19 genes. [...]
2018 - 10.1186/s12967-018-1651-z
Journal of translational medicine, Vol. 16 (october 2018)  
5.
9 p, 631.3 KB The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves : objectives and design / Buffin-Meyer, Bénédicte (Université Toulouse III Paul-Sabatier) ; Klein, Julie (Université Toulouse III Paul-Sabatier) ; van der Zanden, Loes F M (Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center) ; Levtchenko, Elena (Department of Development & Regeneration) ; Moulos, Panogiotis (HybridStat Predictive Analytics) ; Lounis, Nadia (Unité de Recherche Clinique Pédiatrique, Module Plurithématique Pédiatrique du Centre D'Investigation Clinique Toulouse 1436) ; Conte-Auriol, Françoise (Unité de Recherche Clinique Pédiatrique, Module Plurithématique Pédiatrique du Centre D'Investigation Clinique Toulouse 1436) ; Hindryckx, An (Department of Obstetrics and Gynaecology, University Hospitals Leuven) ; Wühl, Elke (Heidelberg University Hospital (Alemanya)) ; Persico, Nicola (Sergio Bonelli Centre for the Prevention of Renal Failure from Fetal to Pediatric Age) ; Oepkes, Dick (Department of Prenatal Diagnosis and Therapy, Leiden University Medical Center) ; Schreuder, Michiel F (Department of Pediatric Nephrology, Radboudumc Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences) ; Tkaczyk, Marcin (Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute) ; Ariceta, Gema (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Fossum, Magdalena (Section of Pediatric Urology, Department of Highly Specialized Pediatric Surgery and Pediatric Medicine, Karolinska University Hospital and Department of Women's and Children's Health, Karolinska Institutet) ; Parvex, Paloma (Pediatric Nephrology, Unité Romande de Néphrologie Pédiatrique, Hôpitaux Universitaire Genève (HUG)) ; Feitz, Wout (For ERN eUROGEN, Department of Urology, Radboudumc Amalia Children's Hospital, Radboud University Medical Center) ; Olsen, Henning (For ERN eUROGEN, Paediatric Urology, Department of Urology, Aarhus University Hospital & Aarhus University) ; Montini, Giovanni (For ERN ERKNet, Pediatric Nephrology-Centro Sergio Bonelli for the Prevention and Treatment of Urinary Tract Malformations) ; Decramer, Stéphane (Centre De Référence des Maladies Rénales Rares du Sud-Ouest (SORARE)) ; Schanstra, Joost P (Université Toulouse III Paul-Sabatier) ; Universitat Autònoma de Barcelona
Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision. [...]
2019 - 10.1093/ckj/sfz107
Clinical Kidney Journal, Vol. 13 (september 2019) , p. 371-379  
6.
7 p, 387.2 KB Variable phenotype in HNF1B mutations : extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract / Madariaga, Leire (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García-Castaño, Alejandro (Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain) ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Martínez-Salazar, Rosa (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Aguayo, Aníbal (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Castaño, Luis (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Universitat Autònoma de Barcelona
Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described. [...]
2018 - 10.1093/ckj/sfy102
Clinical Kidney Journal, Vol. 12 (november 2018) , p. 373-379  
7.
8 p, 744.0 KB Effects of long-term cysteamine treatment in patients with cystinosis / Ariceta, Gema (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Giordano, Vincenzo (Orphan Europe (Puteaux, France)) ; Santos, Fernando (Hospital Universitario Central de Asturias)
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. [...]
2017 - 10.1007/s00467-017-3856-4
Pediatric Nephrology (Berlin, Germany), Vol. 34 (december 2017) , p. 571-578  
8.
11 p, 788.9 KB Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome / García Castaño, Alejandro (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Pérez de Nanclares, Gustavo (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Madariaga, Leire (Universidad del País Vasco. Departamento de Pediatría) ; Aguirre, Mireia (Hospital Universitario Cruces, Bizkaia) ; Madrid, Álvaro (Hospital Universitari Vall d'Hebron) ; Chocrón, Sara (Hospital Universitari Vall d'Hebron) ; Nadal, Inmaculada (Hospital Virgen del Camino, Pamplona) ; Navarro, Mercedes (Hospital Universitario La Paz (Madrid)) ; Lucas, Elena (Hospital de Manises, Valencia) ; Fijo, Julia (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Espino, Mar (Hospital Universitario Fundación Alcorcón) ; Espitaletta, Zilac (Hospital Universitario San Ignacio, Bogotá) ; García Nieto, Víctor (Hospital Universitario Nuestra Señora de Candelaria, Tenerife) ; Barajas de Frutos, David (Hospital Virgen de las Nieves (Granada, Andalusia)) ; Loza, Reyner (Hospital Cayetano Heredia, Lima) ; Pintos, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Castaño, Luis (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Grupo RenalTube ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. [...]
2017 - 10.1371/journal.pone.0173581
PloS one, Vol. 12 Núm. 3 (2017) , p. 1-11  
9.
5 p, 2.4 MB Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene / Clemente, María (Hospital Universitari Vall d'Hebron) ; Vargas, Alejandro (Hospital Universitari Vall d'Hebron) ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Martínez, Rosa (Hospital Universitario Cruces) ; Campos, Ariadna (Hospital Universitari Vall d'Hebron) ; Yeste, Diego (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported.
2017 - 10.1530/EDM-16-0133
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2017 (march 2017)  
10.
12 p, 1.5 MB Efficacy and safety of paricalcitol in children with stages 3 to 5 chronic kidney disease / Webb, Nicholas J. A. (Royal Manchester Children's Hospital, Manchester, UK) ; Lerner, Gary (Keck School of Medicine-Children's Hospital Los Angeles, USA) ; Warady, Bradley A. (Children's Mercy Hospital, Kansas City, USA.) ; Dell, Katherine M. (Cleveland Clinic Children's, USA) ; Greenbaum, Larry A. (Emory School of Medicine and Children's Healthcare of Atlanta, USA.) ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Hoppe, Bernd (University Hospital Bonn, Germany) ; Linde, Peter (AbbVie Inc., North Chicago, USA) ; Lee, Ho-Jin (AbbVie Inc., North Chicago, USA) ; Eldred, Ann (AbbVie Inc., North Chicago, USA) ; Dufek, Matthew B. (AbbVie Inc., North Chicago, USA) ; Universitat Autònoma de Barcelona
Elevated intact parathyroid hormone (iPTH) levels can contribute to morbidity and mortality in children with chronic kidney disease (CKD). We evaluated the pharmacokinetics, efficacy, and safety of oral paricalcitol in reducing iPTH levels in children with stages 3-5 CKD. [...]
2017 - 10.1007/s00467-017-3579-6
Pediatric Nephrology (Berlin, Germany), Vol. 32 (march 2017) , p. 1221-1232  

Articles : 11 registres trobats   1 - 10següent  anar al registre:
Documents de recerca 2 registres trobats  
1.
279 p, 5.1 MB Desarrollo de modelos celulares de la enfermedad de Dent para la identificación de los mecanismos fisiopatológicos que subyacen a la progresión de la enfermedad / Durán Fernández, Mónica ; Meseguer Navarro, Anna, dir. ; Sarró Tauler, Eduard, dir. ; Ariceta Iraola, Gema, dir.
La malaltia de Dent de tipus 1 és un trastorn hereditari por freqüent caracteritzat per proteïnúria de baix pes molecular, hipercalciúria i nefrocalcinosi que progressa a la malaltia renal terminal. [...]
La enfermedad de Dent de tipo 1 es un trastorno hereditario poco frecuente caracterizado por proteinuria de bajo peso molecular (PBPM), hipercalciuria y nefrocalcinosis que progresa a enfermedad renal terminal. [...]
Dent's disease type 1 is a rare inherited disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis that progresses to end-stage renal disease. This disease is caused by mutations in the CLCN5 gene, that codifies for CLC-5, a Cl- channel which is mainly expressed in the proximal tubule of renal cells. [...]

2020  
2.
327 p, 8.2 MB Estudi dels mecanismes genètics i moleculars associats a les diferències fenotípiques observades en pacients amb hipomagnesèmia familiar amb hipercalciúria i nefrocalcinosi (HFHNC) / Vall Palomar, Mònica ; Meseguer Navarro, Anna, dir. ; Ariceta Iraola, Gema, dir.
La hipomagnesèmia familiar amb hipercalciúria i nefrocalcinosi (HFHNC) és una tubulopatia minoritària autosòmica recessiva causada per mutacions als gens CLDN16 o CLDN19, que codifiquen per la claudina-16 i -19, respectivament, que s'expressen a la porció gruixuda de la nansa ascendent de Henle, i estan implicades en el transport iònic paracel·lular. [...]
La hipomagnesemia familiar con hipercalciuria y nefrocalcinosis (HFHNC) es una tubulopatía minoritaria autosómica recesiva causada por mutaciones en los genes CLDN16 o CLDN19, que codifican para la claudina-16 y -19, respectivamente, expresadas en la porción gruesa del asa ascendente de Henle, e implicadas en el transporte iónico paracelular. [...]
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy caused by mutations in either CLDN16 or CLDN19 genes, which encode for claudin-16 and -19, respectively, expressed in the thick ascending loop of Henle, and involved in paracellular ion transport. [...]

2020  

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