Results 91 to 100 of about 39,307 (247)
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 and Sporadic Optic Gliomas
Pediatric Neurology Briefs, 2002 The natural history of sporadic optic gliomas was compared with that of optic gliomas associated with neurofibromatosis type 1 (NF1) in a study using a Children’s Tumor Registry (CTR) and an NF1 Database (NF1DB) at St Mary’s Hospital, Manchester, UK.
J Gordon Millichap
doaj +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, EarlyView.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
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
Clinical Genetics, EarlyView.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
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
Orofacial myofunctional evaluation in individuals with neurofibromatosis type 1
, 2015 PURPOSE: to describe and characterize alterations in orofacial function in individuals with neurofibromatosis type 1 and to correlate these changes with the clinical manifestations of neurofibromatosis type 1 and muscular strength.
Carla Menezes da Silva (12825128) +2 more
core +1 more source
Nevus anemicus in neurofibromatosis type 1
, 2021 Neurofibromatosis type 1 (NF-1), or von Recklinghausen’s disease, is an autosomal dominant condition with an incidence of 1:3000 and a prevalence of 1:4000 to 1:5000.
Calvieri, Stefano +3 more
core +1 more source
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
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source