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Gorlin-Goltz Syndrome: A Case Report and Literature Review with < em > PTCH1 < /em > Gene Sequencing
Arch Plast Surg. 2023 Aug 2;50(4):384-388. doi: 10.1055/a-2096-3536. eCollection 2023 Jul.ABSTRACTGorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male ...
Source: Archives of Plastic Surgery - August 11, 2023 Category: Cosmetic Surgery Authors: Hyo Seong Kim Seung Heo Kyung Sik Kim Joon Choi Jeong Yeol Yang Source Type: research
Formation of Unexpectedly Active Ni-Fe Oxygen Evolution Electrocatalysts by Physically Mixing Ni and Fe Oxyhydroxides
This article is licensed under aCreative Commons Attribution-NonCommercial 3.0 Unported Licence.Mikaela Gorlin, Petko Chernev, Paul Paciok, Cheuk-Wai Tai, Jorge Ferreira de Araujo, Tobias Reier, Marc Heggen, R Dunin-Borkowski, Peter Strasser, Holger Dau We present an unusual, yet facile, strategy towards formation of physically mixed Ni-Fe(OxHy) oxygen evolution electrocatalysts. We use in situ X-ray absorption and UV-vis spectroscopy, and high-resolution imaging to demonstrate... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - Chem. Commun. latest articles - December 12, 2018 Category: Chemistry Authors: Mikaela Gorlin Source Type: research
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
This report adds to the initial patient cohort in which several synonymous variants were also described, further highlighting the contribution of this variant type in CDC45. It also reiterates the true potential pathogenicity of synonymous variants, which is a mutation type that is commonly ignored in variant prioritization strategies.PMID:33639314 | DOI:10.1016/j.ejmg.2021.104182
Source: European Journal of Medical Genetics - February 27, 2021 Category: Genetics & Stem Cells Authors: Karen M Knapp Bridget Fellows Shagun Aggarwal Ashwin Dalal Louise S Bicknell Source Type: research
SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma
We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.PMID:36825822 | DOI:10.1111/ajd.14014
Source: The Australasian Journal of Dermatology - February 24, 2023 Category: Dermatology Authors: Marcial Álvarez-Salafranca Mar Garc ía-García Andrea Montes-Torres Ignacio Rivera-Fuertes Mar ía Teresa López-Giménez Mariano Ara Source Type: research
