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research Genetics of Vitiligo: A Review
Vitiligo is influenced by genetics and environment, and combining these factors can improve early detection and prevention.
research The inheritance of common baldness: Two B or not two B ?
Common baldness is likely inherited through multiple genes, not just one.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases
Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research First‐degree relatives of patients with systemic lupus erythematosus: Autoreactivity but not autoimmunity?
Relatives of lupus patients show signs of immune system activity but not full-blown lupus.
research Concomitant presentation of alopecia areata in siblings: A rare occurrence
Two siblings both had a rare case of alopecia areata at the same time.
research Generalized Vitiligo Associated Autoimmune Diseases in Japanese Patients Their Families
Japanese vitiligo patients and their families often have other autoimmune diseases.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
research Comparison of Androgenetic Alopecia Prevalence in Paternal and Maternal Male Family Members of Male Androgenetic Alopecia Patients
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Inherited Disorders of the Hair
research Eziopatogenesi e terapia dell'acne:studio epidemiologico delle caratteristiche cliniche di una popolazione di pazienti affetti da acne e analisi dei polimorfismi del gene codificante per il recettore degli androgeni e del gene codificante per il citocromo P-450 1A1
Hereditary factors affect acne duration, not severity, and late-onset acne in females has different causes.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Genomic Analysis of Trichotillomania
Trichotillomania may have a genetic link to psychiatric disorders.
research Alopecia Areata is associated with MICA and an extended HLA haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.