Search

for
Search:

Sort by

Research

990-1000 / 1000+ results

Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

1 citations , April 2023 in “Frontiers in Genetics”

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children

3 citations , November 2021 in “Applied Microscopy”

Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.

research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification

66 citations , October 2002 in “Human molecular genetics online/Human molecular genetics”

A gene mutation in mice causes skin defects and early death.

research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans

56 citations , September 2010 in “Veterinary pathology”

Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.

research A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.

September 2022 in “JAMC. Journal of Ayub Medical College, Abbotabad, Pakistan/Journal of Ayub Medical College”

A boy with a rare skin condition improved quickly after starting zinc supplements.

Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

8 citations , January 2012 in “JIMD reports”

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

research LB918 Analysis of National Inpatient Sample to characterize admissions for pediatric patients with dystrophic epidermolysis bullosa

July 2024 in “Journal of Investigative Dermatology”

Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.

research A forgotten and hidden disease

1 citations , September 2017 in “BMJ”

The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.

research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease

2 citations , October 2018 in “Skin appendage disorders”

A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.

research Central Diabetes Insipidus and Hypothalamic Type of Hypopituitarism Associated with Atypical Location of Rathke's Cleft Cyst

3 citations , January 2012 in “Internal Medicine”

A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.

← Previous page