AM Comi - Handbook of clinical neurology, 2015 - Elsevier
Sturge–Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20 000 live births …
AM Hammill, E Boscolo - Journal of Clinical Investigation, 2024 - Am Soc Clin Investig
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%–2% of newborns. Patients with a CM localized on the forehead …
R Fjær, K Marciniak, O Sundnes… - Human molecular …, 2021 - academic.oup.com
Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to …
JW Lee, HY Chung - Otolaryngologic Clinics of North America, 2018 - oto.theclinics.com
Capillary malformations (CMs), also known as port-wine stains or nevus flammeus, are the most common type of congenital vascular malformations. They are present at birth and …
C Bichsel, J Bischoff - Current opinion in hematology, 2019 - journals.lww.com
Several studies confirm the GNAQ R183Q mutation in 90% of nonsyndromic and Sturge– Weber syndrome (SWS) capillary malformations. The mutation is enriched in endothelial …
S Jamjanya, V Vejjabhinanta… - Journal of …, 2023 - Taylor & Francis
Background Although pulsed dye laser (PDL) is the treatment of choice for port-wine stains (PWS), clinical resistance to PDL has been observed in 20–30% of cases. Several …
J Thorpe, LP Frelin, M McCann, CA Pardo… - The Journal of …, 2021 - ncbi.nlm.nih.gov
Sturge-Weber syndrome (Online Mendelian Inheritance in Man# 185300) is a capillary malformation condition (Bichsel and Bischoff, 2019, Comi, 2015). Affected regions include …
A Diociaiuti, R Rotunno, E Pisaneschi, C Cesario… - Biomedicines, 2022 - mdpi.com
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the …
M Zhu, H Zhang, H Yang, Z Zhao… - … in Domestic Animals, 2022 - Wiley Online Library
Litter size is one of the important economic traits of livestock. Seasonal oestrus, ovulation and lambing of sheep have severely restricted the development of sheep farming in …