Results 81 to 90 of about 55,225 (233)
Clinics, 2008 OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients.
Karin Soares Gonçalves Cunha +2 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation [PDF]
, 2010 Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF).
Bahl, A, Bansal, S, Bhagat, S, Gupta, A
core +1 more source
Neurofibromatosis type 1: Surgical Perspectives
The Annals of African Surgery, 2011 Introduction: Neurofibromatosis type 1 (NF1) affects about 1 in 3000 people. The indications for surgical intervention in patients with NF1 are not always clear-cut.
Nthumba PM, MMed(Surg),FCS(ECSA), Plastic Surgery Fellowship +1 more
doaj
Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis
Journal of Obstetric Anaesthesia and Critical Care, 2014 Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh +4 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Legius syndrome: Case report and review of literature [PDF]
, 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
Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases
Pediatric Investigation, EarlyView.Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang +3 more
wiley +1 more source
Benign retroperitoneal schwannoma presenting as colitis: A case report [PDF]
, 2007 We report a case of a patient presenting with clinical , radiological and endoscopic features of colitis due to a compressive left para-aortic mass.
Claes, Kathleen +7 more
core +2 more sources