• "Second-Class Status?" Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome
• "Uncertain" health complaints of women--a challenge for medicine and welfare state policy
• A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
• A Rare Case of KID Syndrome: The Use of Hydrosurgery and Strategies for Antiseptic Wound Care
• A seven-month-old girl with sweaty feet
• Abuse of γ-hydroxybutyrate
• Acute Retinal Necrosis: Is The Current Valacyclovir Regimen Adequate?
• AIDS preventive work in Arusha and Kilimanjaro--health education
• Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations
• Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro
• An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
• Anaphylaxis triggered by alpha-gal allergy
• Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice
• Association Between Early Treatment With Tocilizumab and Mortality Among Critically Ill Patients With COVID-19
• Benzodiazepines to people with substance abuse problems?
• BRCAShare-Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study
• Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2
• Cancer Risks for PMS2-Associated Lynch Syndrome
• Characteristics and Outcomes of Individuals With Pre-existing Kidney Disease and COVID-19 Admitted to Intensive Care Units in the United States
• Chronic whiplash syndrome is no indication for craniocervical fixation
• Clinical, etiopathogenic, and therapeutic aspects of KID syndrome
• Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
• Concurrent follicular dysplasia and interface dermatitis in Boxer dogs
• Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act
• Convalescent plasma from Norwegian blood donors to treat COVID-19
• Counseling and HIV-testing among hospital patients in Arusha and Kilimanjaro
• COVID-19 and Asthma Onset in Children
• Development, characterization and use of monoclonal antibodies against sTRAIL: measurement of sTRAIL by ELISA
• Diagnosis of cryptic chromosome aberrations
• Diagnosis of Non-Celiac Gluten Sensitivity (NCGS): The Salerno Experts' Criteria
• Dumping syndrome following gastric surgery
• Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome
• Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors
• Extracorporeal membrane oxygenation in patients with severe respiratory failure from COVID-19
• Felty's syndrome
• Genetic counseling in congenital long QT syndrome
• Genetic testing by cancer site: colon (nonpolyposis syndromes)
• Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma
• Health care seeking behavior of patients with AIDS
• Hereditary breast and ovarian cancer syndrome: considering the complexities
• Heroin Use Is Associated with AA-Type Kidney Amyloidosis in the Pacific Northwest
• Histopathologic reassessment of melanoma and other melanocytic skin lesions excised in 2009 and 2018-2019
• Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline
• Impaired sensitivity to thyroid hormone
• Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting
• Infectious keratitis in a patient with KID syndrome
• Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies
• Inherited ichthyosis: Syndromic forms
• Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia
• Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg
• Keratoprosthesis in pediatric keratitis-icthyosiform-deafness syndrome
• KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr)
• Lasting Immunological Imprint of Primary Epstein-Barr Virus Infection With Associations to Chronic Low-Grade Inflammation and Fatigue
• Long-range PCR facilitates the identification of PMS2-specific mutations
• Long-term post-concussion symptoms
• Man with macrocephaly, learning disability and multiple basal cell carcinomas
• Melkersson-Rosenthal syndrome: a case report of a rare disease with overlapping features
• mGlu(7) potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome
• mGlu₇ potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome
• mGlu5 positive allosteric modulation normalizes synaptic plasticity defects and motor phenotypes in a mouse model of Rett syndrome
• mGluR5 Negative Modulators for Fragile X: Treatment Resistance and Persistence
• Molecular genetic diagnosis of Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
• More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
• Multiple Scalp Lesions in a Patient with Keratitis, Ichthyosis and Deafness Syndrome Mimicking Metastatic Squamous Cell Carcinoma on 18F-FDG PET/CT
• New knowledge does not always make it simpler
• No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome
• Obesity, inflammatory and thrombotic markers, and major clinical outcomes in critically ill patients with COVID-19 in the US
• Optimizing Health and Athletic Performance for Women
• Oral manifestations of KID syndrome: rare clinical case
• Orofacial granulomatosis: Clinical and therapeutic features in an Italian cohort and review of the literature
• Outcomes of critically ill solid organ transplant patients with COVID-19 in the United States
• Performance of crisis standards of care guidelines in a cohort of critically ill COVID-19 patients in the United States
• Plasma contact system activation drives anaphylaxis in severe mast cell-mediated allergic reactions
• PMS2 monoallelic mutation carriers: the known unknown
• Pregnancy in women with Hereditary Angioedema due to C1-inhibitor deficiency: Results from the ITACA cohort study on outcome of mothers and children with <em>in utero</em> exposure to plasma-derived C1-inhibitor
• Recurrent and founder mutations in the PMS2 gene
• Recurrent corneal ulcers as presenting sign of KID syndrome in a 68-year-old man
• Response to "Comment On: Acute Retinal Necrosis: Is the Current Valacyclovir Regimen Adequate?"
• Risk assessment and genetic counseling for Lynch syndrome - Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
• Risk Factors of ¹³¹I-Induced Salivary Gland Damage in Thyroid Cancer Patients
• Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome
• Routine ECG in methadone-assisted rehabilitation is wrong prioritization
• Selective inhibition of glycogen synthase kinase 3alpha corrects pathophysiology in a mouse model of fragile X syndrome
• Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome
• Senter syndrome
• Standardised detoxification in cases of polydrug use
• Successful topical cyclosporin A in the therapy of progressive vascularising keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome)
• The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
• The effect of a music-based caregiving intervention on pain intensity in nursing home patients with dementia: a cluster-randomized controlled study
• The effect of a music-based caregiving intervention on pain intensity in nursing home patients with dementia. A cluster-randomized controlled study
• The impact of a cascade testing video on recipients' knowledge, cognitive message processing, and affective reactions: A formative evaluation
• The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels
• Therapeutic complement inhibition – from experimental to clinical medicine
• Thinking outside the box
• Type 2 diabetes and metabolic syndrome before and after gastric bypass
• Urine peptide patterns in children with milder types of autism
• Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
• Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome
• Yeast metabolic products, yeast antigens and yeasts as possible triggers for irritable bowel syndrome
• β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X