Results 91 to 100 of about 49,367 (248)

Caracterización epidemiológica, clínica y genética de la Neurofibromatosis 1 en la provincia Pinar del Río

open access: yes, 2017
Con el objetivo de caracterizar la Neurofibromatosis 1 (NF1) se realizó un estudio analítico y transversal en Pinar del Río, desde 2004 hasta 2007.
Orraca Castillo, Miladys
core  

Audiological Characteristics in Vestibular Schwannoma Patients

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective Vestibular schwannoma (VS) is a benign tumor that originates from the Schwann cells of the vestibular nerve sheath in the internal auditory canal. This retrospective study collected data from patients with VS who underwent surgical treatment to identify their demographic characteristics and audiometric features.
Shan Zeng   +4 more
wiley   +1 more source

Targeting KRAS for cancer therapy

open access: yesBritish Journal of Pharmacology, EarlyView.
In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia   +4 more
wiley   +1 more source

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

Surgical excision of Genitourinary neurofibromatosis complicated by enlarged scrotum and penis: A case report

open access: yesUrology Case Reports
Neurofibromatosis, the most common neurocutaneous syndrome, is characterized by numerous neural crest tumors and abnormal skin pigmentation. Genitourinary neurofibromatosis in children is extremely rare and bladder involvement is relatively common.
Jiaqi An, Jianwei Wang, Zhengqing Bao
doaj   +1 more source

Embolization of a ruptured intercostal artery aneurysm in type I neurofibromatosis [PDF]

open access: yes, 2001
We present the case of a female with history of a ruptured lumbar aneurysm years ago. She was known to have neurofibromatosis type I with the typical clinical signs. The patient was transferred to us with a hematothorax and an aortic lesion was suspected
Thierry Carrel   +7 more
core   +1 more source

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

JOINT CHANGES IN NEUROFIBROMATOSIS

open access: yes, 1952
1 . Two patients with monomelic bone and joint changes in neurofibromatosis have been described. 2. The joint changes in neurofibromatosis include dysplasias, sclerosis of the articulating bone ends and secondary osteoarthritis.
A. C. Bingold
core   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

open access: yesClinical 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

ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO

open access: yesRevista Chilena de Obstetricia y Ginecología, 2002
La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M.   +2 more
doaj  

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