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Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum
Child's Nervous System, 2012Neurofibromatosis type 1 (NF1), one of the most common neurocutaneous disorders, is a multisystemic disease associated with tumors in any organ of the body, especially in the central nervous system and also the peripheral nervous system. Pilocytic astrocytomas have been described in almost all intracranial regions in patients with NF1.
Ignacio, Pascual-Castroviejo +1 more
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Posterior fossa tumors in children with neurofibromatosis type 1 (NF1)
Child's Nervous System, 2010Tumours of the posterior fossa associated with neurofibromatosis type 1 (NF1) are very infrequent. Series studying this association are seldom reported.In a series of 600 NF1 patients studied during 39 years (1965-2004) only five (0.83%) had posterior fossa tumours.
Ignacio, Pascual-Castroviejo +6 more
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A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2
Human Genetics, 1997Sequences related to the neurofibromatosis type 1 (NF1) gene have been identified on several human chromosomes. In the centromeric region of chromosomes 14 and 15, two NF1 pseudogenes have been described. Sequence comparison between NF1-related exons amplified from two yeast artificial chromosome clones hybridizing to chromosomal region 15q11.2 and ...
Kehrer Sawatzki H +4 more
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Histologic correlates of “Choroidal abnormalities” in Neurofibromatosis type 1 (NF1)
Acta NeuropathologicaNeurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural crest origin. The most common manifestations are cutaneous, neurologic, skeletal and ocular. The distinction of NF1 from other syndromes with multiple café-au-lait macules may be difficult in the pediatric age group, and ocular ...
Anat O. Stemmer-Rachamimov +4 more
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Human Mutation, 1994
Neurobromatosis type 1 (NF1) is one of the commonest genetic disorders in humans. The gene for NF1 was cloned in 1990. The protein encoded by the gene (neurofibromin) has extensive sequence homology with GTPase-activating protein (GAP). Despite screening the whole coding region of the gene for large and medium size rearrangements and approximately 40 ...
M, Upadhyaya, D J, Shaw, P S, Harper
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Neurobromatosis type 1 (NF1) is one of the commonest genetic disorders in humans. The gene for NF1 was cloned in 1990. The protein encoded by the gene (neurofibromin) has extensive sequence homology with GTPase-activating protein (GAP). Despite screening the whole coding region of the gene for large and medium size rearrangements and approximately 40 ...
M, Upadhyaya, D J, Shaw, P S, Harper
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Spinal Neurofibromatosis (SNF): A Variant Phenotype of Neurofibromatosis Type 1 (NF1)
The Journal of Pediatrics, 2023David S. Rogawski +2 more
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Neurofibromatosis type 1 (NF1): diagnosis and management.
Handbook of clinical neurology, 2014Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on chromosome 17q11.2 and
Rosalie E, Ferner, David H, Gutmann
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Neurofibromatosis type 1 (NF1): as a cause of hypertension
2015Nörofibromatozis tip 1 otozomal dominant geçiş gösteren nöroektodermal ve mezodermal dokuların displazisi sonucu ortaya çıkan klinik bulgular ile karekterizedir. Cafe-au-lait denilen karekteristik pigmente deri lezyonu, aksiller ve inguinal çillenme, deri nörofibromaları, Lisch nodülleri denilen pigmente iris hamartomaları, merkezi sinir sistemi ...
Secil Conkar +5 more
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