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Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733
Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research
LB1763 Combinatorial BRD9 and SMO targeting synergistically suppress UV-induced BCC tumor burden in a murine model of Gorlin syndrome (GS)
Hedgehog (Hh)-targeted drugs drive tumor regression in GS patients. The efficacy of Hh inhibitors (HHi) is limited by tumor resistance/regrowth following drug discontinuation supporting the need to search for novel druggable treatment pathways. Bromodomain-containing protein 9 (BRD9) is a component of non-canonical BAF of SWI/SNF chromatin remodeling complexes. Protein kinase B/AKT enhances cell survival and drives BCC growth. Using murine ASZ001 BCC cells and Ptch1+/-/SKH1 mice, we show persistent elevation of BRD9 and AKT activity in HHi-resistant BCC cells and in tumor allografts.
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: A. Kim, Y. Zhu, D. Chen, M. Elmais, M. Athar, D.R. Bickers Source Type: research
Clinical utility gene card for: Gorlin syndrome - update 2013
p; Giovanna Bianchi Scarra
Source: European Journal of Human Genetics - January 30, 2013 Category: Genetics & Stem Cells Authors: Lorenzo Lo MuzioLorenza PastorinoSonja LevanatVesna MusaniMima SitumGiovanni PontiGiovanna Bianchi Scarra Source Type: research
Gorlin syndrome
Basanti Devi, Binodini Behera, Sibasish Patro, Subhransu S Pattnaik, Manas R PuhanIndian Journal of Dermatology 2013 58(3):241-241Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.
Source: Indian Journal of Dermatology - April 20, 2013 Category: Dermatology Authors: Basanti DeviBinodini BeheraSibasish PatroSubhransu S PattnaikManas R Puhan Source Type: research
Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly
We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. © 2013 Wiley Periodicals, Inc.
Source: American Journal of Medical Genetics Part A - May 21, 2013 Category: Genetics & Stem Cells Authors: Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Gustavo Savino, Marco Pavanello, Rudolf Happle, Sheila Unger, An Tags: Clinical Report Source Type: research
Molecular evidence of type 2 mosaicism in Gorlin syndrome
This article is protected by copyright. All rights reserved.
Source: British Journal of Dermatology - June 1, 2013 Category: Dermatology Authors: A. Torrelo, A. Hernández‐Martín, E. Bueno, I. Colmenero, I. Rivera, L. Requena, R. Happle, R. González‐Sarmiento Tags: case report Source Type: research
Psychological Impact Of Multiple Cancer Surgeries For Gorlin Syndrome Patients Highlighted By New Patient Group Research
The Gorlin Syndrome Group, campaigning to help people with a rare genetic skin cancer, today launched new research highlighting the significant impact of multiple surgeries on patients' wellbeing. The survey, presented today at the European Association of Dermato Oncology (EADO) Congress, revealed that almost half (48%) of patients endure more than 20 surgical procedures although only 15% are offered counselling throughout diagnosis and treatment...
Source: Health News from Medical News Today - July 18, 2013 Category: Consumer Health News Tags: Cancer / Oncology Source Type: news
Green plasma in female blood donors on estrogen-containing birth control pills.
PMID: 24099340 [PubMed - as supplied by publisher]
Source: Transfusion - October 1, 2013 Category: Hematology Authors: Gorlin JB, Engblom A, Janzen M Tags: Transfusion Source Type: research
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci
We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS. © 2013 Wiley Periodicals, Inc.
Source: American Journal of Medical Genetics Part A - October 7, 2013 Category: Genetics & Stem Cells Authors: Livia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, Simonetta Rosato, Anita Wischmeijer, Chiara Gelmini, Enrico Albertini, Giuseppe Albertini, Francesca Forzano, Fabrizia Franchi, Massimo Carella, Leopoldo Zelante, Andrea Superti‐Furga Tags: Clinical Report Source Type: research
Familial multiple basal cell carcinoma (Gorlin's syndrome): A case report of a father and son
Balkrishna Nikam, Ashok Kshirsagar, Pratik Shivhare, Amitoj GargIndian Journal of Dermatology 2013 58(6):481-484Gorlin syndrome is a rare familial disorder characterized by numerous basal cell carcinomas along with facial and skeletal findings. Here, we report a father and son case, presented with features of Gorlin syndrome.
Source: Indian Journal of Dermatology - October 17, 2013 Category: Dermatology Authors: Balkrishna NikamAshok KshirsagarPratik ShivhareAmitoj Garg Source Type: research
Gorlin syndrome: case reports with extremely large odontogenic keratocysts
Background and objectives: Gorlin syndrome is an autosomal dominant, inherited cancer disease with a rare incidence. Diagnostic features are frequently missing in young patients, making the recognition difficult. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis. The odontogenic keratocyst is frequently the presenting manifestation of this syndrome. This condition may be associated with aggressive basal cell carcinomas and malignant neoplasias in 10% of the patients.
Source: International Journal of Oral and Maxillofacial Surgery - October 1, 2013 Category: ENT & OMF Authors: E. Vetro, J. Piffko, L. Seres Source Type: research
Genetic mutations in Gorlin-Goltz syndrome
This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Muthumula DaneswariMutjumula Swamy Ranga Reddy Source Type: research
