A5078067445- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- BRCA gene mutations in cancer
- RNA modifications and cancer
- Hernia repair and management
- Pelvic floor disorders treatments
- RNA Research and Splicing
- Cancer-related gene regulation
- Prenatal Screening and Diagnostics
- RNA regulation and disease
- Tumors and Oncological Cases
- Congenital heart defects research
- Cancer Diagnosis and Treatment
- Gestational Trophoblastic Disease Studies
- Congenital Anomalies and Fetal Surgery
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Pregnancy-related medical research
- Genomic variations and chromosomal abnormalities
- Retinoids in leukemia and cellular processes
- Ion channel regulation and function
- Autism Spectrum Disorder Research
- Pain Mechanisms and Treatments
- Anorectal Disease Treatments and Outcomes
- Congenital limb and hand anomalies
University of Amsterdam
2019-2023
Amsterdam University Medical Centers
2019-2023
Indianapolis Zoo
2023
Triangle
2023
Committee on Publication Ethics
2023
Sorbonne Université
2023
Western University
2023
Pitié-Salpêtrière Hospital
2023
University Medical Center Utrecht
2017
Abstract Pathogenic variants in components of the minor spliceosome have been associated with several human diseases. Recently, it was reported that biallelic RNPC3 lead to severe isolated growth hormone deficiency and pituitary hypoplasia. The gene codes for U11/U12‐65K protein, a component spliceosome. plays role splicing (U12‐type) introns, which are present ~700–800 genes humans represent about 0.35% all introns. Here, we report second family three siblings deficiency, central congenital...
JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial features. encodes transcriptional repressor protein regulates the activity of various histone methyltransferase complexes. However, molecular etiology not fully understood, JARID2-neurodevelopmental syndrome may vary in its typical clinical...
ABSTRACT Objectives To assess change in levator hiatal dimensions between pregnancy and different timepoints after vaginal delivery, map recovery of the hiatus order to contribute secondary prevention symptoms pelvic floor disorders. Methods Twenty nulliparous women with a singleton underwent ultrasound assessment at rest, on maximum muscle contraction (PFMC) Valsalva maneuver 12 weeks' gestation 1 day 1, 2, 3, 4, 6, 12, 18 24 weeks delivery. Dimensions were measured contractility...
Abstract 4H leukodystrophy, also known as Pol III‐related is a rare autosomal recessive neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. It caused biallelic mutations in POLR3A , POL3RB or POLR1C . So far, only two patients have been described with homozygosity for the common c.1568T>A (p.Val523Glu) POLR3B mutation, both of them showing remarkably mild clinical course. Here, we report another patient same but more severe phenotype...
JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic features. acts as transcriptional repressor protein that involved in the regulation of histone methyltransferase complexes. plays role epigenetic machinery, syndrome has an identified DNA methylation...
Verberne, Eline A.; Manshande, Meindert E.; Wagner-Buitenweg, Nadjah F.; Elhage, Wallid; Holtsema, Hilda; van Haelst, Mieke M.Author Information
Abstract Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi‐annual joint pediatric‐genetics clinic with visiting clinical geneticist the Dutch Caribbean. This retrospective study evaluates yield of diagnostic testing and utility diagnosis for patients rare diseases on these relatively isolated, resource‐limited islands. A total 331 that were referred to between November 2011 2019 had included this study. 508 tests performed patients. Microarray,...
Abstract Congenital Insensitivity to Pain (CIP) is a rare disorder that characterized by the inability perceive pain. It caused bi-allelic inactivating mutations in SCN9A gene, which encodes pore-forming α-subunit of nerve voltage-gated sodium channel (Nav1.7). Patients with CIP are unable feel pain from noxious stimuli, including heat, but all other peripheral somatosensory modalities function normally. Often anosmia present as an additional feature. We reported patient compound...
Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with largely unknown etiology. We present 6-year-old girl anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who has de novo intragenic ~403 kb deletion of the GDP-mannose 4,6-dehydratase (GMDS) gene. GMDS located on chromosome 6p25.3 encodes rate limiting enzyme in GDP-fucose synthesis, which used to fucosylate many proteins, including Notch1, plays critical role during...
Abstract Background Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital in Caribbean region are scarce lacking altogether Aruba, Bonaire Curaçao (ABC islands). Methods We performed a population‐based surveillance study to determine structural ABC islands, including all live births stillbirths between January 1, 2008 December 31, 2017 with major according EUROCAT guide 1.5. Terminations pregnancy for fetal anomaly were included as...