Results 71 to 80 of about 1,501 (178)

Features of the course of stis associated with HIV infection [PDF]

, 2023
The purpose of the study. Compare the number of cases and the incidence rate depending on gender and age in the early 2000s and in 2020 in some developed countries and demonstrate a clinical case of multiple chancre.Цель исследования. Сравнить количество
Gurkovskaya, E. P., Mohamed, M. H., Savchenko, N. V., Sin, A. V., Гурковская, Е. П., Мохамед, М. Х., Савченко, Н. В., Син, А. В.   +7 more
core  

A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with Mutation [PDF]

, 2023
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP is related to
Hyun-Seung Jin, Seong Hee Oh, Yoon-Myung Kim, Young Mi Park   +3 more
core   +1 more source

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

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, Marta Ivars, Nicole Revencu, Marie‐Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M. Boon, Eulalia Baselga, Miikka Vikkula   +12 more
wiley   +1 more source

Cutis Marmorata Telangiectatica and Chiari Type I

Pediatric Neurology Briefs, 2003
A 10-year-old girl born with telangiectasias of the lip, trunk, extremities, palms, and soles was found to have an asymptomatic Chiari I malformation without syringomyelia on MRI, and is reported from Children’s Hospital, Alabama.
J Gordon Millichap
doaj   +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, Rui He, Riga Wu, Zhou Yang, Man Hu, Nan Zhang, Wu Guo, Zigang Xu, Lin Ma   +8 more
wiley   +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, A. James Barkovich, AJ Barkovich, AJ Barkovich, AJ Barkovich, AJ Barkovich, AJ Barkovich, AJ Barkovich, AJ Barkovich, AJ Barkovich, AJ Barkovich, AL Gropman, AS Brooks, B Chang, BS Chang, C Englund, C Moore, C Raybaud, DE Michele, EPM Oliveira, F Giuliano, G Mirzaa, G Wieck, I Pascual-Castroviejo, I Pascual-Castroviejo, IA Aligianis, J Aicardi, J Aicardi, J Hallervorden, J Takanashi, JM Graham Jr, KW Gripp, L Baala, L Garavelli, L Villard, M Nassogne, M Warburg, MG Norman, MM Guerreiro, N Hayashi, N Robin, P Evrard, P Roll, PM Bingham, PS Becker, R Borgatti, R Guerrini, R Guerrini, R Guerrini, R Guerrini, R Guerrini, R Kuzniecky, R Kuzniecky, R Wright, RH Caraballo, RJ Leventer, S Ferdinandusse, S Li, SA Moore, U Moog, WB Dobyns, X Piao, XH Jaglin, Y Rolland   +63 more
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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, Sudip Kumar Ghosh, Debabrata Bandyopadhyay, Dibyendu Bikash Bhanja, Surajit Kumar Biswas   +4 more
doaj   +1 more source

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  

Adenosine deaminase 2 deficiency in a Chinese patient: Report of one novel mutation and literature review

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

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