Results 41 to 50 of about 34,178 (233)

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

Human Mutation, 2023
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reported, especially the pectus excavatum (PE). Over the years, several authors have suggested loss of heterozygosity (LOH)
Cristina Chelleri, Marcello Scala, Patrizia De Marco, Vittorio Guerriero, Marzia Ognibene, Francesca Madia, Sara Guerrisi, Marco Di Duca, Michele Torre, Serena Tamburro, Paolo Scudieri, Gianluca Piccolo, Girolamo Mattioli, Francesca Buffelli, Paolo Uva, Diego Vozzi, Ezio Fulcheri, Pasquale Striano, Maria Cristina Diana, Federico Zara   +19 more
openaire   +2 more sources

Design and Optimization of a Double‐Column Vapor Recompression Heat Pump Distillation Process via NSGA‐II for Separating Ternary Wide‐Boiling Mixtures

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This study proposes a novel double‐column vapor recompression heat pump (DCVRHP) distillation process for separating ternary wide‐boiling‐range mixtures under two different vapor conditions: n‐hexane/n‐heptane/n‐octane using low pressure steam and n‐hexanol/n‐octanol/n‐decanol using high pressure steam.
Zeyang Li, Xiaoxin Gao, Xiaoyu Kang, Ruijie Wang, Xiyuan Chen   +4 more
wiley   +1 more source

Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1

International Journal of Pediatrics, 2019
Aims. Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurocognitive impairments in neurofibromatosis type 1 (NF1) and a well-known risk factor for intellectual dysfunction in general.
Magdalena Heimgärtner, Sofia Granström, Karin Haas-Lude, Robert A. Leark, Victor-Felix Mautner, Karen Lidzba   +5 more
doaj   +1 more source

Retrospective Analysis of T2‐Hyperintense Lesions in Children With Neurofibromatosis Type 1

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The aim of this study is to determine whether a previously reported three‐tiered classification scheme for T2‐hyperintense brain lesions in children with neurofibromatosis type 1 (NF1) was associated with distinct radiographic or clinical characteristics after 10 years of real‐world follow‐up data were obtained.
Ariel B. Brickler, Manu S. Goyal, Robert C. McKinstry, David H. Gutmann, Jennifer L. Griffith   +4 more
wiley   +1 more source

A novel variant of NF1 gene in a patient with neurofibromatosis type 1: a case report

Сибирский онкологический журнал
Background. neurofibromatosis type 1 is a common hereditary autosomal dominant disorder caused by pathogenic genetic variants in the NF1 gene located on chromosome 17q11.2.
I. Zh. Zhalsanova, E. A. Fonova, D. N. Erburova, V. V. Petrova, T. N. Kireeva, G. N. Seitova, N. V. Zernov, N. A. Skryabin   +7 more
doaj   +1 more source

Abnormal peripheral blood cell counts in neurofibromatosis type 1

Scientific Reports, 2022
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant disease characterized by neurofibromas with infiltration of mast cells.
Yoshimasa Nobeyama, Ken-ichi Yasuda, Akihiko Asahina   +2 more
doaj   +1 more source

Case Report: Pancreatic Paraganglioma Mimicking a Well‐Differentiated Neuroendocrine Tumor: The Importance of Cytokeratin Immunohistochemistry

Diagnostic Cytopathology, EarlyView.
ABSTRACT Paragangliomas (PGLs) are uncommon neuroendocrine tumors most commonly found in the head and neck that originate from neural crest cells. Primary pancreatic paraganglioma is exceedingly rare and has largely been described in case reports and small case series. We present the case of a 79‐year‐old woman with an incidental pancreatic head lesion
Tanner Storozuk, Marc Vecchio
wiley   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Development of algorithms to identify individuals with Neurofibromatosis type 1 within administrative data and electronic medical records in Ontario, Canada

Orphanet Journal of Rare Diseases, 2022
Background There is limited population-based data on Neurofibromatosis type 1 (NF1) in North America. We aimed to develop and validate algorithms using administrative health data and electronic medical records (EMRs) to identify individuals with NF1 in ...
Carolina Barnett, Elisa Candido, Branson Chen, Priscila Pequeno, Patricia C. Parkin, Karen Tu   +5 more
doaj   +1 more source

Unilateral Yasunari nodule-like appearance in a patient without neurofibromatosis type 1

European Journal of Case Reports in Internal Medicine
Introduction: Yasunari nodules are choroidal lesions characterized by bright, poorly demarcated multiple lesions detected through near-infrared reflectance imaging and are considered diagnostic for neurofibromatosis type 1 (NF1).
Hamit Ali, Nargis Ahmadova, Özlem Ural Fatihoglu, Mehmet Kocabey, Ahmet Okay Caglayan, Ali Osman Saatci   +5 more
doaj   +1 more source