Results 1 to 10 of about 44,580 (273)

Colon cancer in a patient with a mosaic monoallelic germline pathogenic NF1 gene variant [PDF]

Exploration of Neuroscience
Pathogenic variants in the tumor suppressor gene NF1 cause neurofibromatosis type 1 (NF1), one of the most common hereditary cancer predisposition syndromes. Pathogenic NF1 variants have been associated with an increased risk of several cancers; however,
Feras Alsabagh, Karam M. Chaaban, Marlene Girardo, Ehab Harahsheh, Misha B. Asif, Dusica Babovic-Vuksanovic, Mohamad Bassam Sonbol, Mayowa A. Osundiji   +7 more
doaj   +1 more source

Cerebellum-dependent associative learning is not impaired in a mouse model of neurofibromatosis type 1

Scientific Reports, 2022
Individuals with Neurofibromatosis type 1 (NF1) experience a high degree of motor problems. The cerebellum plays a pivotal role in motor functioning and the NF1 gene is highly expressed in cerebellar Purkinje cells.
M. J. Ottenhoff, S. Dijkhuizen, A. C. H. Ypelaar, N. L. de Oude, S. K. E. Koekkoek, S. S.-H. Wang, C. I. De Zeeuw, Y. Elgersma, H. J. Boele   +8 more
doaj   +1 more source

Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series

Medwave
Introduction Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor ...
Elius Paz-Cruz, Patricia Guevara-Ramirez, Arianne Llamos Paneque, Emily Onofre, Christian Rivas Iglesias, Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Viviana A. Ruiz-Pozo, Daniel Simancas-Racines, Ana Karina Zambrano   +9 more
doaj   +1 more source

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Orphanet Journal of Rare Diseases, 2019
Background Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well understood.
Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong, Haibo Mei   +11 more
doaj   +1 more source

Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia

Gazi Medical Journal
Objective: Neurofibromatosis type 1 (NF1) is a genetic disorder presenting primary with variable patterns of skin pigmentation, neurofibromas and iris Lisch nodules.
Şule Altıner, Alper Han Çebi
doaj   +1 more source

Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study

Orphanet Journal of Rare Diseases, 2018
Background Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall ...
Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen   +6 more
doaj   +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

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

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

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