Results 71 to 80 of about 6,707,637 (199)

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome [PDF]

, 2018
Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues.
Paulussen, Aimee D. C., Robbert-Jan C. A. M. Gielen, van Geel, Michel, Reinders, Marieke G. H. C., Michel van Geel, Marieke G. H. C. Reinders, Aimée D. C. Paulussen, Mosterd, Klara, Klara Mosterd, Koillinen, Hannele K., Hannele K. Koillinen, Gielen, Robbert-Jan C. A. M.   +11 more
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Nevoid Basal-cell Syndrome: Literature Review And Case Report In A Family. [PDF]

, 2015
The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ...
Franco Mello Jr. E.J., Gomes Andrade R., Jose Tincani A., Santos Martins A., Camargo Bueno M.A.   +4 more
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Basal Cell Carcinoma Arising in Nevus Sebaceous during Childhood

, 2008
Nevus sebaceous usually occurs as a solitary lesion located mostly on the scalp and the face. The potential for nevus sebaceous to develop malignancy is well recognized, though it is generally thought that this transformation occurs only postpubertally ...
Özay Özkaya, Sibel Ersoy‐Evans, Aslı Altaykan, Gül Erkin, Oezkaya, ÖZAY, Erkin, Guel, Ersoy-Evans, Sibel, Altaykan, Asli   +7 more
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Basal Cell Carcinoma Nevus Syndrome: Population of patients negative for Chromosome 9 mutations [PDF]

, 2016
Patients with Basal Cell Carcinoma Nevus syndrome are assumed to have a chromosome 9 mutation, such as a PTCH1 [9q22] mutation, despite the majority of patients with BCCNS being diagnosed through the presence of major and minor diagnostic criterion.
Updyke, Katelyn, Solomon, James A, Urso, Brittany, Urso, Brittany ; Updyke, Katelyn ; Solomon, James A, Brittany Urso, James A Solomon, Katelyn Updyke   +6 more
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Medulloblastoma with Extensive Nodularity in a Child with Gorlin Syndrome - Case Report from Regional Cancer Centre

Clinical Pediatric Hematology-Oncology
Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (NBCCS), or basal cell nevus syndrome, is a rare autosomal dominant cancer predisposition disorder characterized by high penetrance and variable expressivity.
M. Vijay Krishnan, Appaji Lingegowda, Arun Kumar, Prakruthi S. Kaushik, Meena Haldorai, R. Nikila, Avinash Thummalapalli, T. M. Surekha   +7 more
doaj   +1 more source

Unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization

, 1989
A case of unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization is reported. Unlike the anodontia, the unilateral linear basal cell nevus and osteoma cutis began to appear in adulthood.
Bernengo, Maria Grazia, Isaia, Giovanni Carlo, Aloi, F. G, Grazia Bernengo, M., Isaia, G, TOMASINI, CARLO FRANCESCO   +5 more
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Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in SUFU

Dermatology Reports
Dear Editor, Germline loss-of-function variants in SUFU (MIM*607035), a component of the Hedgehog (HH) signaling pathway, have been associated with multiple hereditary infundibulocystic basal cell carcinoma (iBCC, MIM#604451).
Giulia Pascolini, Giovanna Floriddia, Luca Fania, Barbara Bellei, Laura Eibenschutz, Vito Gomes, Daniele Castiglia   +6 more
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Coexisting Basal Cell Carcinoma and Squamous Cell Carcinoma in Congenital Nevus Sebaceous

, 2018
Nevus sebaceous is a congenital epidermal hamartoma characterized by hyperplastic changes to the epidermis and adnexa. Nevus sebaceous is associated with an elevated risk of cutaneous neoplasms, most often benign; however, malignant neoplasms, most ...
Jordan Rosen, Katherine Nolan, Martin Zaiac, Noah Shaikh, Les Rosen   +4 more
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Non-syndromic bilateral dentigerous cysts associated with permanent second premolars

Clinics and Practice, 2011
The dentigerous cyst is one of the most common developmental odontogenic cysts in the jaw. Occurrence of the bilateral dentigerous cyst is uncommon, and frequently associated with syndromes like basal cell nevus syndrome or cleidocranial dysplasia. There
Shiva Shirazian, Farzaneh Agha-Hosseini
doaj   +1 more source

Basal cell carcinoma in an eyelid of a farmer with Sturge-Weber syndrome [PDF]

, 2007
The paper presents the coexistence of a nevus fl ammeus and basal cell carcinoma affecting the left upper lid of 61-year-old farmer with Sturge-Weber syndrome. The occurrence of basal cell carcinoma in nevus fl ammeus is extremely rare.
Pawlowska-Wakowicz, B., Matysik-Wozniak, A, Gerkowicz, M.   +2 more
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