Search Results - "Espino, Mar"

De novo SEC61A1 mutation in autosomal dominant tubulo‐interstitial kidney disease: Phenotype expansion and review of literature by Espino‐Hernández, Mar, Palma Milla, Carmen, Vara‐Martín, Julia, González‐Granado, Luis I

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Tumor‐induced osteomalacia in an adolescent with an undifferentiated embryonal sarcoma of the liver by Olivas‐Mazón, Raquel, Martín‐Cazaña, María, Pérez‐Mohand, Patricia, Garzón‐Lorenzo, Lucía, Espino‐Hernández, Mar, Baro‐Fernández, María, Pérez‐Alonso, Vanesa

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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome by García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Madrid, Álvaro, Chocrón, Sara, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, García Nieto, Víctor, Barajas de Frutos, David, Loza, Reyner, Pintos, Guillem, Castaño, Luis, Ariceta, Gema

“…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…”
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Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis by Claverie-Martín, Félix, García-Nieto, Víctor, Loris, Cesar, Ariceta, Gema, Nadal, Inmaculada, Espinosa, Laura, Fernández-Maseda, Ángeles, Antón-Gamero, Montserrat, Avila, Africa, Madrid, Álvaro, González-Acosta, Hilaria, Córdoba-Lanus, Elizabeth, Santos, Fernando, Gil-Calvo, Marta, Espino, Mar, García-Martinez, Elena, Sanchez, Ana, Muley, Rafael

“…Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and…”
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Consensus document of the Spanish Group for the Study of the Glomerular Diseases (GLOSEN) for the diagnosis and treatment of lupus nephritis by Rojas-Rivera, Jorge E., García-Carro, Clara, Ávila, Ana I., Espino, Mar, Espinosa, Mario, Fernández-Juárez, Gema, Fulladosa, Xavier, Goicoechea, Marian, Macía, Manuel, Morales, Enrique, Porras, Luis F. Quintana, Praga, Manuel

“…A significant number of patients with systemic lupus erythematosus (between 20% and 60% according to different reported series) develop lupus nephritis in the…”
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Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm by García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Madrid, Alvaro, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, Castaño, Luis, Ariceta, Gema

“…The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic…”
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry by Gil-Peña, Helena, Coto, Eliecer, Santos, Fernando, Espino, Mar, Cea Crespo, Jose Mª, Chantzopoulos, Giannis, Komianou, Filadelfia, Gómez, Juan, Alonso, Belén, Iglesias, Sara, Treard, Cyrielle, Vargas-Poussou, Rosa

“…Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis,…”
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Documento de consenso del Grupo de Estudio de Enfermedades Glomerulares de la Sociedad Española de Nefrología (GLOSEN) para el diagnóstico y tratamiento de la nefritis lúpica by Rojas-Rivera, Jorge E., García-Carro, Clara, Ávila, Ana I., Espino, Mar, Espinosa, Mario, Fernández-Juárez, Gema, Fulladosa, Xavier, Goicoechea, Marian, Macía, Manuel, Morales, Enrique, Quintana Porras, Luis F., Praga, Manuel

“…Un número importante de pacientes con lupus eritematoso sistémico (entre 20 a 60%, según diferentes series) desarrolla nefritis lúpica en el curso de su…”
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Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis by Claverie-Martín, Félix, García-Nieto, Víctor, Loris, Cesar, Ariceta, Gema, Nadal, Inmaculada, Espinosa, Laura, Fernández-Maseda, Ángeles, Antón-Gamero, Montserrat, Avila, África, Madrid, Álvaro, González-Acosta, Hilaria, Córdoba-Lanus, Elizabeth, Santos, Fernando, Gil-Calvo, Marta, Espino, Mar, García-Martinez, Elena, Sanchez, Ana, Muley, Rafael

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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry by Gil-Peña, Helena, Coto, Eliecer, Santos, Fernando, Espino, Mar, Cea Crespo, Jose Mª, Chantzopoulos, Giannis, Komianou, Filadelfia, Gómez, Juan, Alonso, Belén, Iglesias, Sara, Treard, Cyrielle, Vargas-Poussou, Rosa

“…Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic…”
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Abdominal aortic coarctation, renovascular, hypertension, and neurofibromatosis by Criado, Enrique, Izquierdo, Luis, Luján, Salvador, Puras, Enrique, del Mar Espino, M

“…Abdominal aortic coarctation and renal artery stenosis associated with neurofibromatosis is an unusual cause of renovascular hypertension in children and young…”
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Poliquistosis renal autosómica recesiva en el siglo xxi: seguimiento y evolución a largo plazo by Rubio San Simón, Alba, Carbayo Jiménez, Tania, Vara Martín, Julia, Alonso Díaz, Clara, Espino Hernández, Mar

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Autosomal recessive polycystic kidney disease in the 21st century: Long-term follow up and outcomes by Rubio San Simón, Alba, Carbayo Jiménez, Tania, Vara Martín, Julia, Alonso Díaz, Clara, Espino Hernández, Mar

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The horizon of the 21st century in pediatric nephrology: Clinical trials and personalized medicine by Mar Espino Hernández

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Diagnosis and treatment of lupus nephritis: a summary of the Consensus Document of the Spanish Group for the Study of Glomerular Diseases (GLOSEN) by Rojas-Rivera, Jorge E, García-Carro, Clara, Ávila, Ana I, Espino, Mar, Espinosa, Mario, Fernández-Juárez, Gema, Fulladosa, Xavier, Goicoechea, Marian, Macía, Manuel, Morales, Enrique, Quintana, Luis F, Praga, Manuel

“…Lupus nephritis (LN) is the most frequent serious manifestation of patients with systemic lupus erythematosus (SLE). Up to 60% of SLE patients develop LN,…”
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Aetiology, course and treatment of acute tubulointerstitial nephritis in paediatric patients: a cross-sectional web-based survey by Wente-Schulz, Sarah, Aksenova, Marina, Awan, Atif, Ambarsari, Cahyani Gita, Becherucci, Francesca, Emma, Francesco, Fila, Marc, Francisco, Telma, Gokce, Ibrahim, Gülhan, Bora, Hansen, Matthias, Jahnukainen, Timo, Kallash, Mahmoud, Kamperis, Konstantinos, Mason, Sherene, Mastrangelo, Antonio, Mencarelli, Francesca, Niwinska-Faryna, Bogna, Riordan, Michael, Rus, Rina R, Saygili, Seha, Serdaroglu, Erkin, Taner, Sevgin, Topaloglu, Rezan, Vidal, Enrico, Woroniecki, Robert, Yel, Sibel, Zieg, Jakub, Pape, Lars

“…BackgroundAcute tubulointerstitial nephritis (TIN) is a significant cause of acute renal failure in paediatric and adult patients. There are no large…”
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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study by García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Chocron, Sara, Madrid, Alvaro, Lafita Tejedor, Francisco Javier, Gil Campos, Mercedes, Sánchez del Pozo, Jaime, Ruiz Cano, Rafael, Espino, Mar, Gomez Vida, Jose Maria, Santos, Fernando, García Nieto, Victor Manuel, Loza, Reyner, Rodríguez, Luis Miguel, Hidalgo Barquero, Emilia, Printza, Nikoleta, Camacho, Juan Antonio, Castaño, Luis, Ariceta, Gema

“…Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to…”
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The horizon of the 21st century in pediatric nephrology: Clinical trials and personalized medicine by Espino Hernández, Mar

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Diversity of kidney care referral pathways in national child health systems of 48 European countries by Tasic, Velibor, Edvardsson, Vidar O, Preka, Evgenia, Prikhodina, Larisa, Stefanidis, Constantinos J, Topaloglu, Rezan, Shtiza, Diamant, Sarkissian, Ashot, Mueller-Sacherer, Thomas, Fataliyeva, Rena, Kazyra, Ina, Levtchenko, Elena, Pokrajac, Danka, Roussinov, Dimitar, Milošević, Danko, Elia, Avraam, Seeman, Tomas, Faerch, Mia, Vainumae, Inga, Kataja, Janne, Tsimaratos, Michel, Rtskhiladze, Irakli, Hoyer, Peter F, Reusz, George, Awan, Atif, Lotan, Danny, Peruzzi, Licia, Nigmatullina, Nazim, Beishebaeva, Nasira, Jeruma, Edite, Jankauskiene, Augustina, Niel, Olivier, Said-Conti, Valerie, Ciuntu, Angela, Pavićević, Snežana, Oosterveld, Michiel, Bjerre, Anna, Tkaczyk, Marcin, Teixeira, Ana, Lungu, Adrian C, Tsygin, Alexey, Stojanović, Vesna, Podracka, Ludmila, Kersnik Levart, Tanja, Espino-Hernández, Mar, Brandström, Per, Sparta, Giuseppina, Alpay, Harika, Ivanov, Dmytro, Dudley, Jan, Khamzaev, Komiljon, Haffner, Dieter, Ehrich, Jochen

“…Primary, secondary and tertiary healthcare services in Europe create complex networks covering pediatric subspecialties, sociology, economics and politics. Two…”
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El horizonte del siglo xxi en nefrología pediátrica: ensayos clínicos y medicina personalizada by Espino Hernández, Mar

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