Results 61 to 70 of about 24,238,809 (267)
Genes & Development, 2012 The Ras/mitogen-activated protein kinase (MAPK) pathway plays a critical role in transducing mitogenic signals from receptor tyrosine kinases. Loss-of-function mutations in one feedback regulator of Ras/MAPK signaling, SPRED1 (Sprouty-related protein ...
Irma B. Stowe +7 more
semanticscholar +1 more source
PM&R, EarlyView.Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager +4 more
wiley +1 more source
Embarazada con neurofibromatosis tipo 1
Revista de Ciencias Médicas de Pinar del Río, 2016 La neurofibromatosis tipo 1 es una enfermedad genética, de transmisión autosómica, dominante, con 100% de penetrancia y expresividad variable, correspondiendo la mitad de los casos a mutaciones de novo.
Amado Antonio García Odio +3 more
doaj
Neuroibromatosis tipo l: relación genotipo-fenotipo
Acta Neurológica Colombiana, 2020 INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas.
Mariana Teresa Gómez-López +3 more
doaj +1 more source
Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior [PDF]
, 2023 Nicola Davide Cavallo +7 more
openalex +1 more source
Orphanet Journal of Rare Diseases, 2012 BackgroundTo examine the natural growth dynamics of internal plexiform neurofibromas (PNs) in patients with neurofibromatosis 1 (NF1).MethodsTwo hundred and one NF1 patients underwent whole body MRI (WBMRI).
Rosa Nguyen +7 more
semanticscholar +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, EarlyView.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination
Case Reports in Gastrointestinal Medicine, 2012 Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix.
Tine Gregersen +5 more
doaj +1 more source
Alterations in White Matter Microstructure in Neurofibromatosis-1
PLoS ONE, 2012 Neurofibromatosis (NF1) represents the most common single gene cause of learning disabilities. NF1 patients have impairments in frontal lobe based cognitive functions such as attention, working memory, and inhibition.
Katherine H. Karlsgodt +5 more
semanticscholar +1 more source
Australian Endodontic Journal, EarlyView.ABSTRACT This report describes a rare case of alveolar rhabdomyosarcoma initially presenting with clinical features resembling an endodontic lesion. A 15‐year‐old male presented with progressive right maxillary swelling initially treated as a dental abscess.
Saliha Akçay Köprücü +3 more
wiley +1 more source