Results 51 to 60 of about 1,227,280 (190)

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

Assessing the Reliability and Validity of the Catalight Family Wellbeing Scale in a Turkish Sample

Family Relations, EarlyView.
ABSTRACT Background Family well‐being is increasingly recognized as an important outcome in research and practice involving families of individuals with developmental disabilities, highlighting the need for valid assessment instruments. However, the Catalight Family Wellbeing Scale (CFWS) has only been validated in the United States, and evidence for ...
Sedat Turgut, Esra Sözer Boz, Mahir Uğurlu, Lindsey Sneed, Ben Pfingston   +4 more
wiley   +1 more source

Differential Diagnosis Performance of ChatGPT in Oral and Maxillofacial Pathology

Oral Diseases, EarlyView.
ABSTRACT Objective To evaluate ChatGPT (GPT‐5.1) for ranked differential diagnoses in oral and maxillofacial pathology, assess image effects on diagnostic performance and examine output stability across repeated runs. Methods This retrospective diagnostic accuracy study included 160 biopsy‐confirmed cases.
Sohaib Shujaat, Marryam Riaz, Jawaher Mohammed Alsubaie, Aljwhrah Abdulaziz Almuammar, Arun Pillai, Abdulmohsen Alfadley, Ali Anwar Aboalela   +6 more
wiley   +1 more source

Depicting the Immunological Landscape of Basal Cell Carcinoma Subtypes

Journal of Cutaneous Pathology, Volume 53, Issue 12, Page 1131-1141, December 2026.
ABSTRACT Background Anti‐PD‐1 response has been associated with higher PD‐1 ligand (PD‐L1) expression levels in different cancer types. Cemiplimab, an anti‐PD‐1 antibody, has been shown to induce a response rate of 31% and 22% in patients with locally advanced basal cell carcinoma (BCC) and metastatic BCC respectively, who have progressed or are ...
Isabella Dommann, Gaetana Restivo, Isabel Kolm, Federica Sella, Patrick Turko, Phil F. Cheng, Mitchell Levesque, Corina Dommann‐Scherrer, Reinhard Dummer, Egle Ramelyte   +9 more
wiley   +1 more source

Keratocystic odontogenic tumors related to Gorlin–Goltz syndrome: A clinicopathological study

Journal of Oral Biology and Craniofacial Research, 2016
Background: Assess clinicopathological features of patients with keratocystic odontogenic tumor (KCOT) associated with Gorlin–Goltz syndrome in our institution from 2004 to 2015.
Mohammed Israr Ul Khaliq, Ajaz A. Shah, Irshad Ahmad, Shahid Hasan, Sagar S. Jangam, Farah, Anwar   +6 more
doaj   +1 more source

Gorlin Syndrome and Cowden Syndrome

The Keio Journal of Medicine
Gorlin syndrome and Cowden syndrome are hereditary diseases that are characterized by multiple malignancies, cutaneous symptoms, and various other abnormalities. Both disorders are caused by a mutation of the gene that regulates cell proliferation and growth, resulting in tumorigenesis. Representative mutations are mutation in the patched 1 gene (PTCH1)
Goto, Hiroyuki, Tateishi, Chiharu, Tsuruta, Daisuke   +2 more
openaire   +2 more sources

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

Nevoid basal cell carcinoma syndrome

Indian Journal of Dental Research, 2006
Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as ...
Kannan Karthiga, Sundharam Sivapatha, Manikandan R   +2 more
doaj  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Dentofacial characteristics in a child with Meier–Gorlin syndrome: A rare case report

Saudi Dental Journal, 2018
Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema,
Rahul G. Morankar, Ashima Goyal, Krishan Gauba, Aditi Kapur   +3 more
doaj   +1 more source