Results 61 to 70 of about 38,110 (241)

Facial Plexiform Neurofibromatosis Type I

Bengal Journal of Otolaryngology and Head Neck Surgery, 2018
Introduction  Plexiform neurofibroma is a benign tumor of peripheral nerves arising from a proliferation of all neural elements. Clinically, it presents as a subcutaneous mass which feels like a "bag of worms".
Bapan Devnath, Debraj Dey, Avinava Ghosh
doaj  

Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: a case report

Türk Kardiyoloji Derneği Arşivi, 2017
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with ...
Murathan Küçük, Can Ramazan Öncel, Mustafa Uçar, Aytül Belgi Yıldırım   +3 more
doaj   +1 more source

Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]

, 2018
Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C, Duron, Christina, Gutmann, David H, Hardin, Johanna, Ma, Yu, Pan, Yuan, Radunskaya, Ami, Sims, Peter A   +7 more
core   +5 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping

Frontiers in Genetics, 2021
Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much ...
Pengzhen Jin, Kai Yan, Kai Yan, Shaofen Ye, Yeqing Qian, Yeqing Qian, Zaigui Wu, Miaomiao Wang, Yuqing Xu, Yanfei Xu, Minyue Dong, Minyue Dong, Minyue Dong   +12 more
doaj   +1 more source

A conserved circadian function for the Neurofibromatosis 1 gene [PDF]

, 2018
Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Bai, Lei, Cavanaugh, Daniel, Gutmann, David H, Haynes, Paula, Hsu, Cynthia T, Lee, Yool, Sehgal, Amita, Stein, Carly, Wang, Han, Williams, Julie A, Zheng, Xiangzhong   +10 more
core   +3 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]

, 2016
Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B, Anselmi, G, Calafiore, S, Lambiase, A, Mannino, C, Mannino, G   +5 more
core   +2 more sources

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Neurofibromatosis Type I - A Pigmentary Anomaly

Indian Journal of Dermatology, 2004
We describe two cases of neurofibromatosis type I with innumerable pigmented macules involving whole integument including palms and soles with only occasional neurofibromas and seek to differentiate the condition from other genodermatoses with pigmentary
Khandpur Sujay, Sharma Vinod K
doaj