Publications by authors named "Fodstad Heidi"

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Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Marie-Anne Morren, Heidi Fodstad, Hilde Brems, Nicola Bedoni, Emmanuella Guenova

J Med Genet· April 2024

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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Beryl Royer-Bertrand, Sébastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz-Crettol, Heidi Fodstad

Am J Med Genet A· June 2023

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[Management of genetic renal disorders: local experience and importance of the network].
Olivier Bonny, Alexandre Ketterer, Sofia Hermida, Andrea Superti-Furga, Jean-Pierre Venetz, Heidi Fodstad

Rev Med Suisse· June 2023

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Heidi Fodstad

Eur J Hum Genet· April 2023

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Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Ahmed El Mouatani, Géraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, Sandra Whalen, Amale Achaiaa, Heidi Fodstad

Am J Med Genet A· December 2021

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Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad

Genes (Basel)· December 2021

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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, Laureane Mittaz-Crettol, Heidi Fodstad

Genes (Basel)· September 2021

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Case Report: A Rare Truncating Variant of the Gene in IgA Nephropathy.
Gabriella Guzzo, Salima Sadallah, Heidi Fodstad, Jean-Pierre Venetz, Samuel Rotman

Front Genet· May 2021

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Genotype-phenotype correlations in recessive titinopathies.
Marco Savarese, Anna Vihola, Emily C Oates, Rita Barresi, Chiara Fiorillo, Heidi Fodstad

Genet Med· December 2020

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Combined Lung and Liver Transplantation for Short Telomere Syndrome.
Eleni Moschouri, Julien Vionnet, Emiliano Giostra, Cécile Daccord, Romain Lazor, Heidi Fodstad

Liver Transpl· June 2020

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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad

BMC Neurol· January 2020

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[Multidisciplinary cardiogenetic counselling].
Florence Fellmann, Xavier Jeanrenaud, Nicole Sekarski, Katarzyna Michaud, Deborah Hersch, Heidi Fodstad

Rev Med Suisse· May 2017

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Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Alessandra Ferrarini, Muriel Gaillard, Frederic Guerry, Gianpaolo Ramelli, Fodstad Heidi

Am J Med Genet A· February 2014

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Chronic potassium depletion increases adrenal progesterone production that is necessary for efficient renal retention of potassium.
Boutaïna Elabida, Aurélie Edwards, Amel Salhi, Anie Azroyan, Heidi Fodstad

Kidney Int· August 2011

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Common genetic variation of beta1- and beta2-adrenergic receptor and response to four classes of antihypertensive treatment.
Timo Suonsyrjä, Kati Donner, Tuula Hannila-Handelberg, Heidi Fodstad, Kimmo Kontula

Pharmacogenet Genomics· May 2010

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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.
Heidi Fodstad, Elena Gonzalez-Rodriguez, Sylvian Bron, Hanspeter Gaeggeler, Barbara Guisan

Am J Physiol Renal Physiol· May 2009

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Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study.
Timo Suonsyrjä, Tuula Hannila-Handelberg, Heidi Fodstad, Kati Donner, Kimmo Kontula

Am J Hypertens· February 2009

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Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.
Kristian J Paavonen, Heikki Swan, Kirsi Piippo, Päivi Laitinen, Heidi Fodstad

Int J Cardiol· May 2007

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Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes.
Annukka Lehtonen, Heidi Fodstad, Päivi Laitinen-Forsblom, Lauri Toivonen, Kimmo Kontula

Heart Rhythm· May 2007

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Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.
Heidi Fodstad, Saïd Bendahhou, Jean-Sébastien Rougier, Päivi J Laitinen-Forsblom, Jacques Barhanin

Ann Med· December 2006

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Ratio of late to early T-wave peak amplitude in 24-h electrocardiographic recordings as indicator of symptom history in patients with long-QT Syndrome types 1 and 2.
Matti Viitasalo, Lasse Oikarinen, Heikki Swan, Kathryn A Glatter, Heikki Väänänen, Heidi Fodstad

J Am Coll Cardiol· January 2006

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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.
Tuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, Tuula Tikkanen, Frej Fyhrquist, Heidi Fodstad

BMC Med Genet· January 2005

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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.
Heidi Fodstad, Heikki Swan, Päivi Laitinen, Kirsi Piippo, Kristian Paavonen

Ann Med· October 2004

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Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.
Heidi Fodstad, Heikki Swan, Muriel Auberson, Ivan Gautschi, Johannes Loffing

J Mol Cell Cardiol· August 2004

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Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).
Kristian J Paavonen, Hugh Chapman, Päivi J Laitinen, Heidi Fodstad, Kirsi Piippo

Cardiovasc Res· September 2003

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