Results 101 to 110 of about 54,719 (217)
Treatment of ADHD in Neurofibromatosis Type 1
Pediatric Neurology Briefs, 2002 The cognitive and behavioral problems and effects of treatment of attention deficit hyperactivity disorder (ADHD) in 20 children with NF1 and ADHD were compared to 26 control children with NF1, 14 controls with ADHD, and 14 controls with normal ...
J Gordon Millichap
doaj +1 more source
Clinical Genetics, EarlyView.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
An example of an alternative method of communication of a patient with neurofibro-matosis in the socio-cultural environment [PDF]
Саратовский научно-медицинский журнал, 2014 The article presents a case of severe, systemic disease neurofibromatosis type 1 inherited in an autosomal dominant pattern, the patient 62 years. Summarized data of the etiology, pathogenesis, clinical picture.
Eremina M.G., Muratova D.S., Utz S.R.
doaj
Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]
, 2016 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that is caused through loss of function mutations of a tumour suppressor gene called Neurofibromin 1.
Rad, Ellie, Tee, Andrew
core +2 more sources
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler +8 more
wiley +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 +10 more
core +3 more sources
Developmental Medicine &Child Neurology, EarlyView.This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova +6 more
wiley +1 more source
Constipation in adults with neurofibromatosis type 1
Orphanet Journal of Rare Diseases, 2017 Background Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times ...
Cecilie Ejerskov +4 more
doaj +1 more source
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, +2 more
core +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 +7 more
core +5 more sources