Results 101 to 110 of about 55,376 (256)

Neurofibromatosis Type 1 and Sporadic Optic Gliomas

open access: yesPediatric 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

Fatal Tension Hemothorax Combined with Exanguination: A Rare Complication of Neurofibromatosis [PDF]

open access: yes, 2019
Neurofibromatosis (NF) is a common autosomal dominant disorder that can be subdivided into type 1, type 2, and schwannomatosis. Patients with NF1 typically develop café-au-lait spots, scoliosis, and benign neurofibromas.
Bidad, Roz, Blohm, Eike, Hall, Caroline
core  

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

open access: yes, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang   +7 more
core   +2 more sources

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

open access: yesBrain Pathology, EarlyView.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato   +15 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]

open access: yesСаратовский 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  

Treatment of ADHD in Neurofibromatosis Type 1

open access: yesPediatric 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

Legius syndrome: Case report and review of literature [PDF]

open access: yes, 2015
A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous caf\ue9-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 ...
Belcaro, Chiara   +4 more
core   +2 more sources

Losartan Enhances Radiosensitivity by Reversing Immunosuppressive Tumor Microenvironment Induced by Radiotherapy in TNBC

open access: yesCancer Science, EarlyView.
Our study demonstrates that the angiotensin receptor blocker losartan enhances the efficacy of radiotherapy in triple‐negative breast cancer by reversing the immunosuppressive tumor microenvironment. Losartan reprograms tumor‐associated macrophages, inhibits myeloid‐derived suppressor cell function, and boosts CD8+ T‐cell activity.
Xu Wang   +8 more
wiley   +1 more source

Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]

open access: yes, 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

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

open access: yesClinical 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

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