Results 41 to 50 of about 1,927 (190)
Mécanismes et conséquences des mutations [PDF]
, 2005 L’identification des mutations à l’origine de maladies génétiques chez l’homme a pris ces dernières années un essor considérable. Il est devenu possible d’établir le spectre des mutations délétères pour une maladie génétique donnée, et des bases de ...
Hanna, Nadine +3 more
core +1 more source
Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study
Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4
Kristina M. Haebich +6 more
wiley +1 more source
Neurofibromatose tipo 1: a propósito de um caso clínico [PDF]
, 2013 A neurofibromatose é uma doença neurocutânea, genética, autossómica dominante. crónica e progressiva. Tem sido observada em todas as raças e em ambos os sexos.
Ascensão, Ana +4 more
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GABA deficiency in NF1: a multimodal [11C]-Flumazenil and spectroscopy study [PDF]
, 2016 Objective: To provide a comprehensive investigation of the GABA system in patients with Neurofibromatosis type 1 (NF1) that allows understanding the nature of the GABA imbalance in humans at pre- and post-synaptic levels. Methods: In this cross-sectional
Abrunhosa, AJ +6 more
core +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 489-500, April 2026.This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder +7 more
wiley +1 more source
L'atteinte vésicale au cours de la neurofibromatose de Von Recklinghausen
The Pan African Medical Journal, 2014 La neurofibromatose de type 1 ou maladie de Von Recklinghausen est une maladie génétique autosomique dominante en rapport avec des mutations dans le gène suppresseur de tumeur NF1. L'atteinte uro-génitale au cours de cette maladie est rare et moins de 80
Mohamed Hicham Benazzouz +6 more
doaj +1 more source
, 2011 O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de +4 more
core +3 more sources
Cognitive deficits in children with neurofibromatosis Type I: from recognition to treatment [PDF]
, 2008 __Abstract__ Over the past few years, mouse models have significantly contributed to our understanding of the molecular mechanisms underlying cognitive dysfunction in genetic disorders.
Krab, L.C. (Lianne)
core
Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen
The Pan African Medical Journal, 2015 La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelé phacomatose. C'est une affection autosomique dominante relativement rare.
Anass Es seddiki +4 more
doaj +1 more source
Angewandte Chemie, Volume 137, Issue 48, November 24, 2025.Wir präsentieren eine Nanodroplet‐Array‐Plattform, die die Integration von Festphasensynthese, MALDI‐MS‐Analyse und zellbasiertem Screening von 325 potenziellen MEK‐Inhibitoren (Mitogen‐aktivierte‐Proteinkinase‐Kinase) in Nanoliter‐Volumina ermöglicht.
Maximilian Seifermann +10 more
wiley +1 more source