Results 61 to 70 of about 38,097 (208)
Neurofibromatose tipo 1 - uma evolução maligna em idade pediátrica.
Acta Médica Portuguesa, 2010 Neurofibromatosis type 1 is an autosomal dominant disease affecting one in 3000 to one in 4000 people, with a great variability of clinical expression.
Sérgia Soares +4 more
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Targeting KRAS for cancer therapy
British 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
ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO
Revista 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
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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
Orbitotemporal Neurofibromatosis: Case Report
Case Reports in Ophthalmological Medicine, 2012 Plexiform neurofibromas occur in about 60% of neurofibromatosis type 1(NF-1) patients and can lead to severe morbidity by disfigurement or compression of vital structures. Moreover, these tumors can undergo malignant transformation.
Mahalakshmi Balasubramanyam +2 more
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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
Accelerated long‐term forgetting in children with neurofibromatosis type 1
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib +8 more
wiley +1 more source
AteneoIntroducción: La neurofibromatosis tipo 1 o NF1 pertenece al grupo de las Rasopatías que son un grupo de enfermedades que se caracterizan por mutaciones de los genes que codifican de las vías Ras/MAPK, localizado en el cromosoma 17q11.2, provocando un ...
Javier Aquiles Hidalgo Acosta +4 more
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