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Total 794 results found since Jan 2013.
CODY: A Study Evaluating The Safety And Efficacy Of QTORIN 3.9% Sirolimus Topical Gel For The Prevention Of Basal Cell Carcinomas (BCCs) In Patients With Gorlin Syndrome
Condition: BCCs in Gorlin Syndrome Patients Interventions: Drug: PTX-022; Drug: Vehicle comparator Sponsor: Palvella Therapeutics, Inc. Recruiting
Source: ClinicalTrials.gov - May 19, 2021 Category: Research Source Type: clinical trials
Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation
We reported a fetus diagnosed with Meier-Gorlin syndrome 7. The antenatal sonographic images were presented, and compound heterozygous mu...
Source: BMC Pregnancy and Childbirth - May 17, 2021 Category: OBGYN Authors: Xia Li, Lan-Zhen Zhang, Lin Yu, Zhao-Lua Long, An-Yun Lin and Chen-Yu Gou Tags: Case report Source Type: research
Pediatric Resident Knowledge of Transfusion Medicine: Results From the BEST-TEST3 International Education Needs Assessment
DISCUSSION: A rigorously validated exam has now been developed that can be used to assess pediatric transfusion medicine knowledge. A large international group of pediatric residents performed poorly on the exam demonstrating a pressing need for improved transfusion medicine education to ensure safe and appropriate administration of blood components to infants and children.PMID:33969906 | DOI:10.1111/trf.16439
Source: Transfusion - May 10, 2021 Category: Hematology Authors: Allison P Wheeler Meghan Delaney Mark Fung Jed Gorlin Jose Mauro Kutner Joyce Ching Mei Lam Nancy Robitaille Ben Saxon Simon J Stanworth Leo Van De Watering Ana P H Yokoyama Richard L Haspel BEST-TEST3 Investigators Source Type: research
Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma
CONCLUSION: Our results help towards finding new treatable molecular targets for these types of medulloblastomas.PMID:33893086 | DOI:10.21873/cgp.20264
Source: Genomics Proteomics ... - April 24, 2021 Category: Genetics & Stem Cells Authors: Sivan Gershanov Helen Toledano Nomi Pernicone Suzana Fichman Shalom Michowiz Albert Pinhasov Nitza Goldenberg-Cohen Tamar Listovsky Mali Salmon-Divon Source Type: research
075 PTCH1 mutations in high-frequency basal cell carcinoma patients without Gorlin stigmata
Gorlin syndrome is an autosomal dominant disorder characterized by tumor preponderance and developmental defects. Diagnosis is traditionally made based on clinical criteria, including the presence of major features, such as multiple basal cell carcinomas (BCCs), palmar and plantar pits, jaw keratocysts, and falcine calcification, as well as minor features, including skeletal and radiologic abnormalities. Gorlin syndrome is predominantly caused by mutations in patched 1 (PTCH1), a tumor suppressor gene in the hedgehog signaling pathway.
Source: Journal of Investigative Dermatology - April 19, 2021 Category: Dermatology Authors: V.J. Hua, W.H. Chan, G.H. Cho, H. Do, I. Bailey, A. Oro, J. Tang, K.Y. Sarin Tags: Carcinogenesis and Cancer Genetics Source Type: research
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)
This report summarizes genotype-based recommendations for screening patients withPTCH1 andSUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 inPTCH1, and at age 20 inSUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 forPTCH1 PV carriers only. For medulloblastomas, repeated brain MRI...
Source: Familial Cancer - April 16, 2021 Category: Cancer & Oncology Source Type: research
Multiple basal cell carcinomas in Gorlin Syndrome treated with pulsed dye laser
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Source: Journal of Cosmetic and Laser Therapy - April 14, 2021 Category: Laser Surgery Authors: Molly Marous Kelly Mueller Francisco Tausk Source Type: research
A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours
Acta Derm Venereol. 2021 Apr 13. doi: 10.2340/00015555-3797. Online ahead of print.NO ABSTRACTPMID:33846763 | DOI:10.2340/00015555-3797
Source: Acta Derm Venereol A... - April 13, 2021 Category: Dermatology Authors: Meriem Ighilahriz Sergey Nikolaev Andrey A Yurchenko Maxime Battistella Samia Mourah Fan élie Jouenne Emanuelle Bourrat Nicole Basset-Seguin Source Type: research
