Results 161 to 170 of about 27,346,886 (339)

Multiple Oral and Eyelid Nodules in a Pediatric Patient

Oral Diseases, EarlyView.
Caique Mariano Pedroso, Paulo Victor Mendes Penafort, Patrícia Vitor de Souza, Fernanda M. Pascon, Regina Maria Punppin‐Rontani, Beatriz Frolini Paulo Cherve, Rachel Marinho Robim, Regina Maria Holanda de Mendonça, Marcio Ajudarte Lopes, Pablo Agustin Vargas, Alan Roger Santos‐Silva   +10 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Simultaneous Moyamoya disease and cervical spinal cord low-grade astrocytoma in a child with neurofibromatosis type 1 [PDF]

, 2013
Jeffrey J. Gold, Chris E Dory, Michael L. Levy, John R. Crawford   +3 more
openalex   +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, Gianpaolo Maggi, Francesco Ferraiuolo, Anna Sorrentino, Silverio Perrotta, Marco Carotenuto, Gabriella Santangelo, Claudia Santoro   +7 more
openalex   +1 more source

Solitary Nodule in the Hard Palate

Oral Diseases, EarlyView.
Sara Lia Gonçalves de Lima, Poliana Soares Cruz, Maria Gabriela Candido Dias, Láysa Tavares de Melo, Laura Maria dos Santos Reis Rocha de Castro, Felipe Paiva Fonseca, Brunno Santos de Freitas Silva   +6 more
wiley   +1 more source

A Biochemically “Silent” Aortocaval Paraganglioma in a 19‐Year‐Old Female Causing Intraoperative Hypertensive Crisis: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Paragangliomas may appear biochemically silent, yet still behave as functional tumors with severe intraoperative consequences. Normal preoperative catecholamine screening does not exclude the risk of hypertensive crisis during surgery.
Abdul Basit, Tooba Yaqoob, Eyman Farrukh, Abdullah Iftikhar, Muhammad Usman Ali Khan, Majeed Haq   +5 more
wiley   +1 more source

Neurofibromatosis tipos 1 y 2

Revista del Hospital Italiano de Buenos Aires
La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como ...
María Florencia Correa, Natalia Inés Pasik   +1 more
doaj  

Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley   +1 more source

Neurofibromatosis: chronological history and current issues Neurofibromatose: histórico cronológico e aspectos atuais

Anais Brasileiros de Dermatologia, 2013
Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous ...
João Roberto Antônio, Eny Maria Goloni-Bertollo, Lívia Arroyo Trídico   +2 more
doaj  

Reproducibility of cognitive endpoints in clinical trials: Lessons from neurofibromatosis type 1 [PDF]

, 2019
OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments.
et al,, Gutmann, David H, Payne, Jonathan M   +2 more
core   +1 more source