Egbert Bakker
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View article: Supplementary Tables 1-5, Supplementary Figure 1 from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom
Supplementary Tables 1-5, Supplementary Figure 1 from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom Open
Supplementary Tables 1-5, Supplementary Figure 1 from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom
View article: Supplementary Tables 1-5, Supplementary Figure 1 from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom
Supplementary Tables 1-5, Supplementary Figure 1 from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom Open
Supplementary Tables 1-5, Supplementary Figure 1 from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom
View article: Data from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom
Data from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom Open
Background: Increased number of melanocytic nevi is a potent melanoma risk factor. We have carried out a large population-based case-control study to explore the environmental and genetic determinants of nevi and the relationship wi…
View article: Data from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom
Data from Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom Open
Background: Increased number of melanocytic nevi is a potent melanoma risk factor. We have carried out a large population-based case-control study to explore the environmental and genetic determinants of nevi and the relationship wi…
View article: Desmopressine is and remains the drug of first choice for clozapine-induced nocturnal enuresis or urinary incontinence
Desmopressine is and remains the drug of first choice for clozapine-induced nocturnal enuresis or urinary incontinence Open
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View article: Acknowledgments
Acknowledgments Open
The stories, images, and analysis that make up this book are the result of discussions and encounters I had with especially knowledgeable and stimulating people.Many were actively involved in an Indian or Western hobby, or in reenactment a…
View article: A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families Open
We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observ…
View article: Replication Data for Crisis Signaling: How Italy’s Coronavirus Lockdown Affected Incumbent Support in Other European Countries
Replication Data for Crisis Signaling: How Italy’s Coronavirus Lockdown Affected Incumbent Support in Other European Countries Open
The COVID-19 pandemic is an unparalleled global crisis. Yet despite the grave adversity faced by citizens, incumbents around the world experienced a boost in popularity during the onset of the outbreak. In this study, we examine how the re…
View article: Development of a comprehensive noninvasive prenatal test
Development of a comprehensive noninvasive prenatal test Open
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without …
View article: Development of a comprehensive noninvasive prenatal test
Development of a comprehensive noninvasive prenatal test Open
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without …
View article: Development of a comprehensive noninvasive prenatal test
Development of a comprehensive noninvasive prenatal test Open
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without …
View article: A novel keratin 13 variant in a four‐generation family with white sponge nevus
A novel keratin 13 variant in a four‐generation family with white sponge nevus Open
Key Clinical Message We report a novel KRT 13 germ line variant that causes white sponge nevus ( WSN ) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical …
View article: Critical points for an accurate human genome analysis
Critical points for an accurate human genome analysis Open
Next-generation sequencing is radically changing how DNA diagnostic laboratories operate. What started as a single-gene profession is now developing into gene panel sequencing and whole-exome and whole-genome sequencing (WES/WGS) analyses.…
View article: European registration process for Clinical Laboratory Geneticists in genetic healthcare
European registration process for Clinical Laboratory Geneticists in genetic healthcare Open
View article: Erratum: Guidelines for diagnostic next-generation sequencing
Erratum: Guidelines for diagnostic next-generation sequencing Open
View article: Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density Open
Background: Recessive mutations in the leptin receptor (LEPR) are a rare cause of hyperphagia and severe early-onset obesity. To date, the phenotype has only been described in 25 obese children, some of whom also had a…
View article: Guidelines for diagnostic next-generation sequencing
Guidelines for diagnostic next-generation sequencing Open
We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed b…
View article: Efficacy of octreotide long-acting repeatable in neuroendocrine tumors: RADIANT-2 placebo arm post hoc analysis
Efficacy of octreotide long-acting repeatable in neuroendocrine tumors: RADIANT-2 placebo arm post hoc analysis Open
Somatostatin analogues (SSA) have demonstrated antiproliferative activity in addition to efficacy for carcinoid symptom control in functional neuroendocrine tumors (NET). A post hoc analysis of the placebo arm of the RAD001 In Advanced Neu…
View article: A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma
A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma Open
View article: Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease
Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease Open
Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different hap…
View article: Hemizygosity for<i>SMCHD1</i>in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome
Hemizygosity for<i>SMCHD1</i>in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome Open
Facioscapulohumeral muscular dystrophy (FSHD) is most often associated with variegated expression in somatic cells of the normally repressed DUX4 gene within the D4Z4-repeat array. The most common form, FSHD1, is caused by a D4Z4-repeat ar…