Maria Soller

article

Malignant hyperthermia safety – A nationwide survey of publicly funded Swedish healthcare

Anna Hellblom, William Pettersson Miller, Maria Soller, Carolina Samuelsson

Acta Anaesthesiologica Scandinavica > 68 > 6 > 788 - 793

Background Malignant hyperthermia (MH) is a rare pharmacogenetic disorder that can lead to a life‐threatening reaction during general anaesthesia with triggering agents. Prompt life‐saving treatment includes the immediate administration of the antidote dantrolene. This study investigated Swedish healthcare providers' awareness and adherence to guidelines and recommendations with respect to MH and...

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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, more

Orphanet Journal of Rare Diseases > 2017 > 12 > 1 > 1-14

Background Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a process for which BCS1L protein is indispensable. Mutations in the BCS1L gene constitute the most common diagnosed cause of CIII deficiency, and the phenotypic spectrum arising from...

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, more

Human Genetics > 2017 > 136 > 4 > 463-479

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed...

article

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Antoinette Hollestelle, Frederieke H. van der Baan, Andrew Berchuck, Sharon E. Johnatty, more

Gynecologic Oncology > 2016 > 141 > 2 > 386-401

Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as...

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The gynecological surveillance of women with Lynch syndrome in Sweden

Gerasimos Tzortzatos, Emil Andersson, Maria Soller, Marie Stenmark Askmalm, more

Gynecologic Oncology > 2015 > 138 > 3 > 717-722

Women with Lynch syndrome (LS) have up to a 60% lifetime risk of endometrial cancer (EC) and up to a 24% risk of ovarian cancer (OC). Gynecological surveillance is recommended, but the benefit and how it should be performed remain unclear. The purpose of this study was to assess diagnostic modalities for gynecological screening of LS patients in Sweden and clinical outcome.A retrospective nationwide...

article

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, more

Orphanet Journal of Rare Diseases > 2015 > 10 > 1 > 1-11

Background Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation...

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Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, more

Parkinsonism & Related Disorders > 2014 > 20 > 8 > 919-923

Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).We identified three Swedish FRDA patients with an FXN p.R165P missense mutation and compared their clinical features with six homozygote trinucleotide repeat expansion carriers. Patients were assessed clinically. Trinucleotide expansion length was determined...

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Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

Klas Wictorin, Björn Brådvik, Karin Nilsson, Maria Soller, more

Parkinsonism and Related Disorders > 2014 > 20 > 7 > 748-754

We describe the clinical characteristics of a Swedish family with autosomal dominant cerebellar ataxia, sensory and autonomic neuropathy, additional neurological features and unknown genetic cause.Fourteen affected family members were identified. Their disorder was characterized by neurological examination, MRI, electroneurography, electromyography, MIBG-scintigraphy, and tilt-testing.The disorder...

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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Anna Marie Mulligan, Fergus J Couch, Daniel Barrowdale, Susan M Domchek, more

Breast Cancer Research > 2011 > 13 > 6 > 1-20

Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...

article

Mutation update for the PORCN gene

Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, more

Human Mutation > 32 > 7 > 723 - 728

Mutations in the PORCN gene were first identified in Goltz‐Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz‐Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb‐Body Wall Complex. Here we present a review of the published mutations...

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Amor, more

Human Mutation > 31 > 10 > 1142 - 1154

A range of phenotypes including Greig cephalopolysyndactyly and Pallister‐Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty‐one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands...

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Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

Carlo Castellani, Milan Macek, Jean-Jacques Cassiman, Alistair Duff, more

Journal of Cystic Fibrosis > 2010 > 9 > 3 > 165-178

This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies who are considering or planning its establishment...

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Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases

Josef Davidsson, Anna Collin, Mia Engman Olsson, Johan Lundgren, more

Epilepsy Research > 2008 > 81 > 1 > 69-79

To characterize a deletion of chromosome 2q at the molecular level in a patient suffering from severe epilepsy resembling severe myoclonic epilepsy of infancy/Dravet's syndrome (SMEI/DS) and to correlate other cases harboring deletions in the same region to morphological and clinical data.Array-based comparative genomic hybridization (array CGH) was performed on DNA from the patient. Forty-three previously...

article

The BRCA1 exon 13 duplication in the Swedish population

Barbara Kremeyer, Maria Soller, Kristina Lagerstedt, Paula Maguire, more

Familial Cancer > 2005 > 4 > 2 > 191-194

article

Dissecting karyotypic patterns in renal cell carcinoma: an analysis of the accumulated cytogenetic data

Mattias Höglund, David Gisselsson, Maria Soller, Gunnar B. Hansen, more

Cancer Genetics and Cytogenetics > 2004 > 153 > 1 > 1-9

Renal cell carcinoma (RCC) is one of the most frequent malignancies in Western societies. The most common subtypes are conventional (clear-cell) and papillary carcinomas, which account for about 75 and 10% of cases, respectively. Cytogenetically, conventional RCC is the best-studied subtype and is characterized by chromosomal losses: loss of the short arm of chromosome 3 being the most common. Papillary...

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Cytogenetic findings and clinical course in a consecutive series of Wilms tumors

Carl-Magnus Kullendorff, Maria Soller, Thomas Wiebe, Fredrik Mertens

Cancer Genetics and Cytogenetics > 2003 > 140 > 1 > 82-87

Wilms tumor (WT) is characterized by a nonrandom pattern of chromosome aberrations, but the clinical significance of different cytogenetic patterns is unknown. The present study describes the cytogenetic findings and the clinical course in a cohort of 39 children with WT. Samples for short-term culturing and cytogenetic analysis were obtained during a 15-year period. Clonal chromosome aberrations...

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Search results for: Maria Soller

Malignant hyperthermia safety – A nationwide survey of publicly funded Swedish healthcare

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

The gynecological surveillance of women with Lynch syndrome in Sweden

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Mutation update for the PORCN gene

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases

The BRCA1 exon 13 duplication in the Swedish population

Dissecting karyotypic patterns in renal cell carcinoma: an analysis of the accumulated cytogenetic data

Cytogenetic findings and clinical course in a consecutive series of Wilms tumors

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