[HTML][HTML] Genetics and genomics in Peru: Clinical and research perspective

H Guio, JA Poterico, KS Levano… - Molecular Genetics & …, 2018 - ncbi.nlm.nih.gov
Genetics and genomics in Peru: Clinical and research perspective - PMC Back to Top Skip to
main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main Content …

[HTML][HTML] Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in PDGFRB

A Howaldt, S Lenglez, C Velmans, AM Schultheis… - Ophthalmology …, 2024 - Elsevier
Purpose To investigate the genetic cause, clinical characteristics, and potential therapeutic
targets of infantile corneal myofibromatosis. Design Case series with genetic and functional …

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions

C Bredrup, I Cristea, LA Safieh… - Human molecular …, 2021 - academic.oup.com
Ocular pterygium-digital keloid dysplasia (OPDKD) presents in childhood with ingrowth of
vascularized connective tissue on the cornea leading to severely reduced vision. Later the …

A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia

I Cristea, H Abarca, AE Christensen Mellgren… - FEBS …, 2023 - Wiley Online Library
Ocular pterygium–digital keloid dysplasia (OPDKD) is a rare hereditary disease
characterized by corneal ingrowth of vascularized conjunctival tissue early in life. Later …

Tumors of the nail apparatus and adjacent tissues

M Pasch, E Haneke, R Baran… - Baran & Dawber's …, 2019 - Wiley Online Library
The clinical differential diagnosis of many tumors in the nail area is difficult. The nail plate
both covers the lesions and may influence the pattern of invasion. Most benign tumors cause …

Frontometaphyseal dysplasia and keloid formation without FLNA mutations

H Basart, A van de Kar, L Adès, TJ Cho… - American Journal of …, 2015 - Wiley Online Library
Frontometaphyseal dysplasia (FMD) is a distinctive sclerosing skeletal dysplasia associated
with a number of non‐skeletal manifestations including hearing loss, cardiac malformations …

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome

H Iznardo, C Bredrup, S Bernal… - American Journal of …, 2022 - Wiley Online Library
Penttinen type of premature aging syndrome is an autosomal‐dominant disorder that can be
caused by the c. 1994T> A pVal665Ala pathogenic variant in platelet‐derived growth factor …

Clinical and molecular investigation of rare genetic overgrowth disorders

AC Foster - 2023 - etheses.bham.ac.uk
Genetic overgrowth disorders are a group of rare conditions characterised by generalised
and/or regional overgrowth. They are associated with a wide spectrum of clinical features …

Pellino-2 intracellular localization and inflammasome overactivation in skin and corneal disease

I Cristea - 2021 - bora.uib.no
Background: Ocular pterygium-digital keloids dysplasia (OPDKD) is a rare, genetic disorder
characterized by early onset corneal overgrowth and later development of keloids on distal …

Treatment of corneal vascularisation

C Bredrup, O Bruland, E Rødahl… - US Patent App. 17 …, 2024 - Google Patents
US20240216370A1 - Treatment of corneal vascularisation - Google Patents US20240216370A1
- Treatment of corneal vascularisation - Google Patents Treatment of corneal vascularisation Info …