A5019396767- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Gender Studies in Language
- Immune Cell Function and Interaction
- Tracheal and airway disorders
- Genetic factors in colorectal cancer
- Peptidase Inhibition and Analysis
- Cancer-related molecular mechanisms research
- interferon and immune responses
- Neurofibromatosis and Schwannoma Cases
- Viral Infections and Immunology Research
- Parvovirus B19 Infection Studies
- Protein Tyrosine Phosphatases
- Virus-based gene therapy research
- Otitis Media and Relapsing Polychondritis
- Congenital Ear and Nasal Anomalies
- Congenital Heart Disease Studies
- Sexual Differentiation and Disorders
- Polyomavirus and related diseases
- Soft tissue tumor case studies
- LGBTQ Health, Identity, and Policy
- Vector-Borne Animal Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
Johns Hopkins All Children's Hospital
2014-2025
Johns Hopkins University
2014-2025
Washington Center
2015
University of Washington
2015
Neurofibromatosis type 1 (NF1), a common genetic disorder with birth incidence of 1:2,000–3,000, is characterized by highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and single amino acid deletion p.Met922del. Both variants predispose to distinct mild phenotype neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report...
Abstract Turner syndrome (TS) affects 50 per 100 000 females. TS multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics genetics, estrogen treatment, fertility, co-morbidities, neurocognition neuropsychology. Exploratory meetings were held in 2021 Europe United States culminating with a consensus meeting Aarhus, Denmark June 2023. Prior to this, eight groups addressed areas...
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification genotype-phenotype correlations challenging because wide range clinical variability, progressive nature disorder, and extreme diversity mutational spectrum. We report 136 individuals with a distinct phenotype carrying five different NF1 missense mutations p.Arg1809. Patients presented multiple café-au-lait macules (CALM) or without freckling Lisch nodules, but no...
Abstract Turner syndrome is recognized now as a familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, cardiologists, but also increasingly primary care providers, internal medicine obstetricians, reproductive specialists. In addition, the of women with may involve social services, various educational neuropsychologic therapies. This article focuses on recognition management from adolescents in transition, through adulthood, into another...
Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be severe prenatal findings, most often linked to the 45, X karyotype, majority of fetuses have no overt phenotype, resulting in delayed diagnosis and management. The objective this study assess efficacy non-invasive testing by cell-free DNA (cfNIPT) detecting different variants examine phenotypic variations clinical outcomes.Data on pregnancies confirmed or suspected from 2000 2024...
To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Syndrome Society of United States created Research Registry (TSRR), a patient‐powered registry for girls and women with TS. More than 600 participants, parents or guardians completed 33‐item foundational survey that included questions demographics, medical conditions, psychological sexuality, hormonal therapy, patient provider TS, satisfaction. The TSRR platform is engineered to allow individuals living...
Key Clinical Message We present a patient with Phelan‐McDermid syndrome, rare neurodevelopmental disorder caused by 22q13 deletion, the previously undescribed finding of progressive dilation great arteries. While congenital heart defects have been identified in patients previously, arteries has not described to our knowledge.
Key Points Constitutional mismatch repair deficiency syndrome should be considered in children with acute leukemia and characteristic skin lesions. The high mutation burden of CMMRD-related cancers contributes to treatment resistance, necessitating individualized strategies.
While SOA promises great benefits in productivity and flexibility, the tools for securing these systems continue to lag behind. The ideal of security is provide trusted containers frameworks that enforce policies established during deployment, remove logic policy from application code completely. Standards such as WS-Security address some issues, but enterprise don't stop start with Web services. In an N-tier user authenticated at client platform, this authentication will ultimately...
Constitutional mismatch repair deficiency (CMMRD) is a rare inherited cancer predisposition syndrome caused by bi-allelic mutations in one of four genes.1 Individuals with CMMRD are at increased risk for childhood-onset brain tumors, hematologic malignancies, gastrointestinal tumors and often have café-au-lait macules (CALMS).2,3 Diagnosis frequently delayed due to overlapping phenotype neurofibromatosis 1 (NF1).4,5,6 Additionally, molecular diagnosis medical management can be challenging...