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Research 30 of 79
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
- Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers
- Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
- Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
- RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
- Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
- Molecular studies of Hutchinson-Gilford progeria syndrome
- Hutchinson-Gilford Progeria Syndrome: Premature Aging
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
- Genetics of Progeria and Aging
- Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
- Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
- Hutchinson-Gilford progeria syndrome - A brief introduction
- Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
- Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
- Lamins in development, tissue maintenance and stress
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Progeroide Syndrome
- Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
- High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
- How to diagnose a lipodystrophy syndrome