Results 81 to 90 of about 2,039 (202)
Verisuonianomalioiden luokittelu ja esiintyminen suuontelon ja leukaluiden alueella [PDF]
, 2022 Syventävän opinnon kirjallisuusosassa perehdyin ISSVA:n (the International Society for the Study of Vascular Anomalies) verisuonianomalioiden luokittelujärjestelmään ja käytin aineistona myös Pubmed-tietokantaa ja muuta alan kirjallisuutta.
Naamanka, Maria
core
American Journal of Medical Genetics Part A, Volume 194, Issue 6, June 2024.Abstract Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3‐kinase–protein kinase B–mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM ...
Martina De Bortoli +12 more
wiley +1 more source
Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis
Pediatric Investigation, Volume 8, Issue 2, Page 117-125, June 2024.Somatic mutations in GNA11/GNAQ are found in patients with phakomatosis pigmentovascularis (PPV). Yet, little is reported in the Chinese population. We present the clinical characteristics and genetic findings in a series of pediatric patients with PPV in the Chinese population, further confirming the pathogenic role of postzygotic GNA11/GNAQ variants ...
Bin Zhang +8 more
wiley +1 more source
Phakomatosis pigmentovascularis: A clinical profile of 11 Indian patients
Indian Journal of Dermatology, 2019 Introduction: Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi.
Abhijit Dutta +4 more
doaj +1 more source
Current concepts of polymicrogyria [PDF]
, 2010 Polymicrogyria is one of the most common malformations of cortical development. It has been known for many years and its clinical and MRI manifestations are well described.
A Jansen +63 more
core +4 more sources
Syndromic scalp defects - genotype-phenotype studies in Johanson-Blizzard syndrome and Adams-Oliver syndrome [PDF]
, 2016 von Diplom-Biologin Maja ...
Sukalo, Maja
core +1 more source
Journal of Cosmetic Dermatology, Volume 23, Issue 1, Page 68-75, January 2024.Abstract Objective Through a case of deficiency of adenosine deaminase 2 (DADA2) to improve domestic clinicians' understanding of the disease, and to review the literature, promote dermatologists for clinical secondary primary lesion diagnosis. Method Analysis of a case diagnosed with DADA2 deficiency of clinical manifestations, laboratory, imaging ...
Bai Yuxuan, Duan Yan
wiley +1 more source
An Infant With Congenital Scalp, Nail, and Limb Anomalies
Pediatric Dermatology, Volume 42, Issue 2, Page 407-409, March/April 2025.
Sabrina Yang, Joseph M. Lam
wiley +1 more source
Manchas Mongólicas Múltiplas e Sobrepostas numa Criança Caucasiana [PDF]
, 2018 Mongolian spots are common birthmarks in newborns and their incidence and prevalence vary considerably between races, being the lowest in caucasian infants.
António, Ana Marta +2 more
core +2 more sources
Cutis Marmorata Telangiectatica Congenita: A Case Report
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2014 Cutis marmorata telangiectatica congenita (CMTC) is a rare, benign, sporadic vascular abnormality of the skin of unknown aetiology. It is usually present at birth but may develop later on. Diagnosis of the disease is made clinically.
Ozden Turan +4 more
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