H. Fodstad

发表

CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn’s disease

M. Färkkilä, M. Lappalainen, T. Heliö, 2003, Gut.

Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women.

H. Huikuri, M. Savolainen, Y. Kesäniemi, 2002, Journal of the American College of Cardiology.

Effects of mineralocorticoid and K+ concentration on K+ secretion and ROMK channel expression in a mouse cortical collecting duct cell line.

B. Rossier, S. Bron, J. Horisberger, 2009, American journal of physiology. Renal physiology.

Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes.

L. Toivonen, K. Kontula, A. Lehtonen, 2007, Heart rhythm.

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

J. Virtamo, L. Schild, I. Tikkanen, 2005, BMC Medical Genetics.

Chronic potassium depletion increases adrenal progesterone production that is necessary for efficient renal retention of potassium.

P. Meneton, A. Doucet, M. Bloch-Faure, 2011, Kidney international.

Combined Lung and Liver Transplantation for Short Telomere Syndrome

O. Naveiras, C. Sempoux, D. Moradpour, 2020, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

P atio of Late to Early T-Wave Peak mplitude in 24h Electrocardiographic ecordings as Indicator of Symptom History in atients With Long-QT Syndrome Types 1 and 2

M. Scheinman, K. Kontula, L. Oikarinen, 2016 .

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.

M. Viitasalo, L. Toivonen, M. Scheinman, 2006, Journal of the American College of Cardiology.

Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water

A. Sajantila, K. Kontula, P. Laitinen, 2003, International Journal of Legal Medicine.

unctional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH 2 ( HERG )

M. Viitasalo, L. Toivonen, K. Kontula, 2003 .

Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.

M. Viitasalo, L. Toivonen, S. Sarna, 2007, International Journal of Cardiology.

Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study.

K. Kontula, T. Hannila-Handelberg, T. Hiltunen, 2009, American journal of hypertension.

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects

J. Kaprio, M. Viitasalo, L. Toivonen, 2000, Human mutation.

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly

F. Giuliano, M. Vekemans, A. Superti-Furga, 2021, American journal of medical genetics. Part A.

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

C. Rivolta, A. Superti-Furga, É. Roulet-Perez, 2020, BMC Neurology.

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

A. Superti-Furga, B. Royer-Bertrand, Katarina Cisarova, 2021, Genes.

THREE CASES OF NON‐INFLAMMATORY ISCHEMIC OPTIC NEUROPATHY OCCURRING IN THE SAME FAMILY

W. Thorburn, H. Fodstad, L. Berggren, 1974, Acta ophthalmologica.

GENETIC AND FUNCTIONAL S OF SEVERE V ARRHYTHMIAS

H. Fodstad, 2005 .

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients

L. Schild, S. Bendahhou, J. Barhanin, 2006, Annals of medicine.

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

M. Viitasalo, L. Toivonen, K. Kontula, 2004, Annals of medicine.

Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).

M. Viitasalo, L. Toivonen, K. Kontula, 2003, Cardiovascular research.

Genetic and Functional Studies of Severe Ventricular Arrhythmias

H. Fodstad, 2005 .

β1-Adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome

M. Viitasalo, L. Toivonen, S. Sarna, 2007 .

Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy

G. Pantaleo, S. Sadallah, A. Superti-Furga, 2021, Frontiers in Genetics.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

L. Garavelli, T. Grimaldi, A. Superti-Furga, 2021, Genes.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother

A. Superti-Furga, B. Royer-Bertrand, S. Lebon, 2023, American journal of medical genetics. Part A.

Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.

L. Schild, K. Kontula, J. Loffing, 2004, Journal of molecular and cellular cardiology.

Common genetic variation of β1- and β2-adrenergic receptor and response to four classes of antihypertensive treatment

K. Kontula, T. Hannila-Handelberg, T. Hiltunen, 2010, Pharmacogenetics and genomics.

Multiplex genotyping of the human beta2-adrenergic receptor gene using solid-phase capturable dideoxynucleotides and mass spectrometry.

J. Ju, J. Russo, T. Bonome, 2003, Analytical biochemistry.

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

J. Virtamo, L. Schild, I. Tikkanen, 2005, BMC Medical Genetics.