Carina Frykholm

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia et al.

Ingår i American Journal of Human Genetics, 2025

• DOI för Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Johansson, Josefin; Lidéus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia et al.

Ingår i European Journal of Human Genetics, 2024

• DOI för Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
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A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis

Erkapers, Maria; Frykholm, Carina; Furuland, Hans; Segerstrom, Susanna et al.

Ingår i Upsala Journal of Medical Sciences, 2024

• DOI för A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis
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Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Ghaderi Berntsson, Shala; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter et al.

Ingår i Frontiers in Genetics, 2023

• DOI för Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
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Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report

Ehrstedt, Christoffer; Liu, Wei-Wei; Frykholm, Carina; Beeson, David et al.

Ingår i Neuromuscular Disorders, s. 80-83, 2022

• DOI för Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia et al.

Ingår i American Journal of Human Genetics, 2025

• DOI för Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
• Ladda ner fulltext (pdf) av Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Johansson, Josefin; Lidéus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia et al.

Ingår i European Journal of Human Genetics, 2024

• DOI för Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
• Ladda ner fulltext (pdf) av Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis

Erkapers, Maria; Frykholm, Carina; Furuland, Hans; Segerstrom, Susanna et al.

Ingår i Upsala Journal of Medical Sciences, 2024

• DOI för A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis
• Ladda ner fulltext (pdf) av A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Ghaderi Berntsson, Shala; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter et al.

Ingår i Frontiers in Genetics, 2023

• DOI för Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
• Ladda ner fulltext (pdf) av Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report

Ehrstedt, Christoffer; Liu, Wei-Wei; Frykholm, Carina; Beeson, David et al.

Ingår i Neuromuscular Disorders, s. 80-83, 2022

• DOI för Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Johansson, Josefin; Frykholm, Carina; Ericson, Katharina; Kazamia, Kalliopi et al.

Ingår i American Journal of Medical Genetics. Part A, s. 1676-1687, 2022

• DOI för Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
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Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Charlton, Jennifer R.; Tan, Weizhen; Daouk, Ghaleb; Teot, Lisa et al.

Ingår i American Journal of Physiology - Renal Physiology, 2020

• DOI för Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

Ingår i American Journal of Medical Genetics Part B, s. 10-20, 2018

• DOI för Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
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Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

Frykholm, Carina; Klar, Joakim; Tomanovic, Tatjana; Ameur, Adam et al.

Ingår i European Journal of Human Genetics, s. 1871-1874, 2018

• DOI för Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam et al.

Ingår i Prenatal Diagnosis, s. 1146-1154, 2017

• DOI för A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
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A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Bondeson, Marie-Louise; Ericson, Katharina; Gudmundsson, Sanna; Ameur, Adam et al.

Ingår i Clinical Genetics, s. 510-516, 2017

• DOI för A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication

Lodefalk, Maria; Frykholm, Carina; Esbjorner, Elisabeth; Ljunggren, Östen

Ingår i Hormone Research in Paediatrics, s. 213-218, 2016

• DOI för Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Frykholm, Carina; Klar, Joakim; Arnesson, Hanna; Rehnman, Anna-Carin et al.

Ingår i Gene, s. 10-16, 2015

• DOI för Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Storm, Tina; Tranebjærg, Lisbeth; Frykholm, Carina; Birn, Henrik et al.

Ingår i Nephrology, Dialysis and Transplantation, s. 585-591, 2013

• DOI för Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Renal consequences of megalin deficiency in humans

Storm, Tina; Nielsen, Rikke; Christensen, Erik; Frykholm, Carina et al.

Ingår i Nephrology, Dialysis and Transplantation, s. 326-327, 2012

Familial Meniere's disease in five generations

Frykholm, Carina; Larsen, Hans-Christian; Dahl, Niklas; Klar, Joakim et al.

Ingår i Otology and Neurotology, s. 681-686, 2006

• DOI för Familial Meniere's disease in five generations

A Meniere's disease gene linked to chromosome 12p12.3.

Klar, Joakim; Frykholm, Carina; Friberg, Ulla; Dahl, Niklas

Ingår i American Journal of Medical Genetics Part B, s. 463-467, 2006

• DOI för A Meniere's disease gene linked to chromosome 12p12.3.