Search Results - "Fodstad, Heidi"

Genotype–phenotype correlations in recessive titinopathies by Savarese, Marco, Vihola, Anna, Oates, Emily C., Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Díaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-García, Ricardo, Sáenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Välipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo López, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vílchez, Juan J., Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne

“…Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire titin ( TTN ) coding sequence. This has resulted in the…”
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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature by Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien

“…A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of…”
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Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy by Guzzo, Gabriella, Sadallah, Salima, Fodstad, Heidi, Venetz, Jean-Pierre, Rotman, Samuel, Teta, Daniel, Gauthier, Thierry, Pantaleo, Giuseppe, Superti-Furga, Andrea, Pascual, Manuel

“…IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Despite appropriate therapy, 20–40% of affected-patients evolve toward…”
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Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug–associated torsades de pointes by Lehtonen, Annukka, MD, Fodstad, Heidi, PhD, Laitinen-Forsblom, Päivi, PhD, Toivonen, Lauri, MD, PhD, Kontula, Kimmo, MD, PhD, Swan, Heikki, MD, PhD

“…Background Pathophysiologically significant ion-channel mutations have been detected in only a minority of cases of acquired long QT syndrome (LQTS). Objective…”
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Common genetic variation of β1- and β2-adrenergic receptor and response to four classes of antihypertensive treatment by Suonsyrjä, Timo, Donner, Kati, Hannila-Handelberg, Tuula, Fodstad, Heidi, Kontula, Kimmo, Hiltunen, Timo P

“…Varying results have been reported on the association of β-adrenergic receptor polymorphisms with blood pressure (BP) response to β-blockers. We investigated…”
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Effects of mineralocorticoid and K+ concentration on K+ secretion and ROMK channel expression in a mouse cortical collecting duct cell line by Fodstad, Heidi, Gonzalez-Rodriguez, Elena, Bron, Sylvian, Gaeggeler, Hanspeter, Guisan, Barbara, Rossier, Bernard C, Horisberger, Jean-Daniel

“…The cortical collecting duct (CCD) plays a key role in regulated K(+) secretion, which is mediated mainly through renal outer medullary K(+) (ROMK) channels…”
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Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland by Fodstad, Heidi, Swan, Heikki, Laitinen, Päivi, Piippo, Kirsi, Paavonen, Kristian, Viitasalo, Matti, Toivonen, Lauri, Kontula, Kimmo

“…Mutations in five cardiac voltage-gated ion channel genes, including KCNQ1, HERG, SCN5A, KCNE1 and KCNE2, constitute the principal cause of inherited long-QT…”
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association between HERG K897T polymorphism and QT interval in middle-aged finnish women by Pietilä, Eeva, Fodstad, Heidi, Niskasaari, Elmo, Laitinen, P.äivi J, Swan, Heikki, Savolainen, Markku, Kesäniemi, Y.Antero, Kontula, Kimmo, Huikuri, Heikki V

“…The aim of this study was to test whether a recently reported polymorphism in the HERG gene coding for the rapidly activating delayed rectifier K+ channel has…”
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Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients by Fodstad, Heidi, Bendahhou, Saïd, Rougier, Jean-Sébastien, Laitinen-Forsblom, Päivi J, Barhanin, Jacques, Abriel, Hugues, Schild, Laurent, Kontula, Kimmo, Swan, Heikki

“…Mutations of at least six different genes have been found to cause long QT syndrome (LQTS), an inherited arrhythmic disorder characterized by a prolonged QT…”
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β1-Adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome by Paavonen, Kristian J, Swan, Heikki, Piippo, Kirsi, Laitinen, Päivi, Fodstad, Heidi, Sarna, Seppo, Toivonen, Lauri, Kontula, Kimmo, Viitasalo, Matti

“…Abstract Background The most prevalent LQT1 form of inherited long QT syndrome is caused by mutations of the KCNQ1 gene resulting repolarizing IKs potassium…”
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension by Hannila-Handelberg, Tuula, Kontula, Kimmo, Tikkanen, Ilkka, Tikkanen, Tuula, Fyhrquist, Frej, Helin, Karri, Fodstad, Heidi, Piippo, Kirsi, Miettinen, Helena E, Virtamo, Jarmo, Krusius, Tom, Sarna, Seppo, Gautschi, Ivan, Schild, Laurent, Hiltunen, Timo P

“…Rare mutations of the epithelial sodium channel (ENaC) result in the monogenic hypertension form of Liddle's syndrome. We decided to screen for common variants…”
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Multiplex genotyping of the human β2-adrenergic receptor gene using solid-phase capturable dideoxynucleotides and mass spectrometry by Kim, Sobin, Shi, Shundi, Bonome, Tomás, Ulz, Michael E., Edwards, John R., Fodstad, Heidi, Russo, James J., Ju, Jingyue

“…Previously, we established the feasibility of using solid phase capturable (SPC) dideoxynucleotides to generate single base extension (SBE) products which were…”
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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations by Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

“…To assess the potential of detecting copy number variations (CNVs) directly from exome sequencing (ES) data in diagnostic settings, we developed a…”
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Combined Lung and Liver Transplantation for Short Telomere Syndrome by Moschouri, Eleni, Vionnet, Julien, Giostra, Emiliano, Daccord, Cécile, Lazor, Romain, Sciarra, Amedeo, Letovanec, Igor, Sempoux, Christine, Gonzalez, Michel, Unger, Sheila, Fodstad, Heidi, Haubitz, Monika, Baerlocher, Gabriela Maria, Voruz, Sophie, Naveiras, Olaia, Jacquemin, Emmanuel, Moradpour, Darius, Fraga, Montserrat

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant by Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde

“…Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder…”
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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother by Royer‐Bertrand, Beryl, Lebon, Sébastien, Craig, Ailsa, Maeder, Johanna, Mittaz‐Crettol, Laureane, Fodstad, Heidi, Superti‐Furga, Andrea, Good, Jean‐Marc

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Management of genetic renal disorders: local experience and importance of the network by Bonny, Olivier, Ketterer, Alexandre, Hermida, Sofia, Superti-Furga, Andrea, Venetz, Jean-Pierre, Chehade, Hassib, Fodstad, Heidi, Cina, Viviane, Parvex, Paloma, Paoloni-Giacobino, Ariane, De Seigneux, Sophie, Fakhouri, Fadi

“…In nephrology, rare disorders are frequently encountered. In children, about 60% of the renal disorders are rare, with congenital abnormalities of the kidney…”
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Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis by Pollazzon, Marzia, Caraffi, Stefano Giuseppe, Faccioli, Silvia, Rosato, Simonetta, Fodstad, Heidi, Campos-Xavier, Belinda, Soncini, Emanuele, Comitini, Giuseppina, Frattini, Daniele, Grimaldi, Teresa, Marinelli, Maria, Martorana, Davide, Percesepe, Antonio, Sassi, Silvia, Fusco, Carlo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia

“…The term "arthrogryposis" is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an…”
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Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly by El Mouatani, Ahmed, Van Winckel, Géraldine, Zaafrane‐Khachnaoui, Khaoula, Whalen, Sandra, Achaiaa, Amale, Kaltenbach, Sophie, Superti‐Furga, Andrea, Vekemans, Michel, Fodstad, Heidi, Giuliano, Fabienne, Attie‐Bitach, Tania

“…Polydactyly is a hallmark of GLI3 pathogenic variants, with Greig cephalopolysyndactyly syndrome and Pallister‐Hall syndrome being the two main associated…”
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Chronic potassium depletion increases adrenal progesterone production that is necessary for efficient renal retention of potassium by Elabida, Boutaïna, Edwards, Aurélie, Salhi, Amel, Azroyan, Anie, Fodstad, Heidi, Meneton, Pierre, Doucet, Alain, Bloch-Faure, May, Crambert, Gilles

“…Modern dietary habits are characterized by high-sodium and low-potassium intakes, each of which was correlated with a higher risk for hypertension. In this…”
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