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

Upsala journal of medical sciences, 2024, Vol.129, p.e10228-7

2024

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

Neuromuscular disorders : NMD, 2022-01, Vol.32 (1), p.80-83

2022

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

Frontiers in genetics, 2023-09, Vol.14

2023

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Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

Journal of human genetics, 2010-12, Vol.55 (12), p.834-837

2010

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

Gene, 2015-05, Vol.563 (1), p.10-16

2015

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

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-07, Vol.141B (5), p.463-467

2006

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

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1871-1874

2018

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

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.333-341

2024

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A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy

Clinical genetics, 2017-11, Vol.92 (5), p.510-516

2017

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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1676-1687

2022

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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

American journal of physiology. Renal physiology, 2020-12, Vol.319 (6), p.F988-F999

2020

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

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-01, Vol.177 (1), p.10-20

2018

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

Nephrology, dialysis, transplantation, 2013-03, Vol.28 (3), p.585-591

2013

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

Prenatal diagnosis, 2017-11, Vol.37 (11), p.1146-1154

2017

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Osler's disease - a disease with a wide variety of clinical manifestations deserving multidisciplinary competence

Läkartidningen, 2022-08, Vol.119

2022

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

Hormone research in paediatrics, 2016-01, Vol.85 (3), p.213-218

2016

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Renal consequences of megalin deficiency in humans

NEPHROLOGY DIALYSIS TRANSPLANTATION, 2012, Vol.27 (S2), p.326

2012

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Familial Ménière's disease in five generations

Otology & neurotology, 2006-08, Vol.27 (5), p.681-686

2006

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Clinical and genetic studies of hearing impairment

Frykholm, Carina

2007

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

Neuromuscular disorders : NMD, 2022, Vol.32 (1), p.80-83

2022

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

Frontiers in genetics, 2023, Vol.14, p.1226766-1226766

2023

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

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

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

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

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

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

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

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

A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

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

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

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

Osler's disease - a disease with a wide variety of clinical manifestations deserving multidisciplinary competence

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

Renal consequences of megalin deficiency in humans

Familial Ménière's disease in five generations

Clinical and genetic studies of hearing impairment

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

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

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