Results 101 to 110 of about 108,120,995 (240)

Coexistence of neurofibromatosis type-1 and primary pulmonary sarcoma: a case report and review of the literature [PDF]

, 2014
Neurofibromatosis type-1 (NF1) is a genetic disorder characterized by café-au-lait spots, neurofibroma and other associated features. The risk of malignancy is approximately 2.5 to 4-fold higher as compared to general population.
Lim, Suat Yee, Chin, Pek Woon, Md Tarekh, Noor Aliza, Hoo, Fan Kee, Boo, Yang Liang   +4 more
core   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Reliability of functional outcome measures in adults with neurofibromatosis 1 [PDF]

, 2018
Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 (NF1) and to ascertain how closely objective and subjective measures align.
Williams, V., Ferner, R.E., Rebecca Smith, Thomas, M., Rebecca L Mullin, John F Golding, Mary Thomas, Mullin, R.L., Golding, J.F., Victoria Williams, Rosalie E Ferner, Smith, R.   +11 more
core   +1 more source

Familial paragangliomas

Hereditary Cancer in Clinical Practice, 2006
Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect.
Lips CJM, Lentjes EGWM, Höppener JWM, Luijt RB, Moll FL   +4 more
doaj   +1 more source

Rare complications of neurofibromatosis 1 diagnosed incidentally in two children

, 2018
Cecilia Lazea,1 Carmen Asavoaie,2 Camelia Al-Khzouz,3 Lenuta Popa1 1Department of Pediatrics I, Emergency Clinic Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, 2Department of Imaging and Radiology, Emergency ...
Lazea C, Popa L, Al-Khzouz C, Asavoaie C
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Neurofibromatosis

, 2011
Neurofibromatosis 1 and 2 have historically been grouped together. However they represent two distinct diseases separated both genetically and clinically.
George Tharakan
core   +1 more source

Neurofibromatosis tipo 1

Ateneo
Introducción: La neurofibromatosis tipo 1 o NF1 pertenece al grupo de las Rasopatías que son un grupo de enfermedades que se caracterizan por mutaciones de los genes que codifican de las vías Ras/MAPK, localizado en el cromosoma 17q11.2, provocando un ...
Javier Aquiles Hidalgo Acosta, Wagnner Ariol Intriago Zambrano, Grace Gabriela Loor Ordóñez, Israel Luis Villavicencio Quevedo, Joanna Patricia Moreno Garzón   +4 more
doaj  

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

Loose Anagen Hair Syndrome: A Scoping Review

Pediatric Dermatology, EarlyView.
ABSTRACT Loose anagen hair syndrome (LAHS) is a rare, non‐scarring alopecia that may occur sporadically or follow autosomal dominant inheritance. The objective of this study was to review the etiology, clinical presentation, diagnostic features (including trichoscopy, trichogram, and microscopy), natural history, and treatment outcomes of LAHS.
Romy Shenderey, Hailey Land, Eric McMullen, Daniela Giansante, Grace Xiong, Katya Peri, Raquel Ocvirk, Justin Trasolini, Laurence Mainville, Shireen Dumont, Narachai Julanon, Cathryn Sibbald, Jeffrey Donovan   +12 more
wiley   +1 more source

Neurofibromatosis-1

, 2001
Extensive retinal microvascular malformation involving both small and large retinal vessels. (Ref: BJO 2002:86, p282-284). Anatomy: Retina. Pathology: Retinal microvascular malformations. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
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