Results 251 to 260 of about 86,851 (276)
Some of the next articles are maybe not open access.
Current Opinion in Pediatrics, 1997
Recent advances in molecular genetics and biochemistry have defined the chromosomal abnormalities present in neurofibromatosis type 1 and type 2. The protein deficiency responsible for each syndrome has been identified. Unfortunately, this rapid progress in basic science has not yet produced an effective treatment for the underlying pathology. Patients
openaire +2 more sources
Recent advances in molecular genetics and biochemistry have defined the chromosomal abnormalities present in neurofibromatosis type 1 and type 2. The protein deficiency responsible for each syndrome has been identified. Unfortunately, this rapid progress in basic science has not yet produced an effective treatment for the underlying pathology. Patients
openaire +2 more sources
Neurosurgery, 1987
Abstract Of the various forms of neurofibromatosis, the best known are peripheral neurofibromatosis (von Recklinghausen's disease) and central neurofibromatosis. There is a rare form called segmental neurofibromatosis, in which the cutaneous and neural changes are limited to one sector of the body and with which there is usually no ...
C E, Rawlings +3 more
openaire +2 more sources
Abstract Of the various forms of neurofibromatosis, the best known are peripheral neurofibromatosis (von Recklinghausen's disease) and central neurofibromatosis. There is a rare form called segmental neurofibromatosis, in which the cutaneous and neural changes are limited to one sector of the body and with which there is usually no ...
C E, Rawlings +3 more
openaire +2 more sources
2018
The mode of inheritance is autosomal dominant (AD), with about 80% penetrance, but about half of cases have spontaneous mutations with no family history.
Stephen H, Tsang, Tarun, Sharma
openaire +2 more sources
The mode of inheritance is autosomal dominant (AD), with about 80% penetrance, but about half of cases have spontaneous mutations with no family history.
Stephen H, Tsang, Tarun, Sharma
openaire +2 more sources
Seminars in Oncology Nursing, 1992
The two types of neurofibromatosis are NF-1 and NF-2. Both cause abnormal cell growth in the central and peripheral nervous system. Each disease is inherited as an autosomal dominant trait, thus each child of an affected parent has a 50% chance of inheriting the disorder.
openaire +2 more sources
The two types of neurofibromatosis are NF-1 and NF-2. Both cause abnormal cell growth in the central and peripheral nervous system. Each disease is inherited as an autosomal dominant trait, thus each child of an affected parent has a 50% chance of inheriting the disorder.
openaire +2 more sources
Annual Review of Pathology: Mechanisms of Disease, 2007
As familial cancer syndromes, the neurofibromatoses exhibit complex phenotypes, comprising a range of tumor and nontumor manifestations. Although the three recognized forms of neurofibromatosis (NF1, NF2, and schwannomatosis) all feature the development of nervous system tumors, their underlying genetic bases are clearly distinct.
openaire +2 more sources
As familial cancer syndromes, the neurofibromatoses exhibit complex phenotypes, comprising a range of tumor and nontumor manifestations. Although the three recognized forms of neurofibromatosis (NF1, NF2, and schwannomatosis) all feature the development of nervous system tumors, their underlying genetic bases are clearly distinct.
openaire +2 more sources
Gastrointestinal Neurofibromatosis
Journal of Clinical Gastroenterology, 1984Progressive anemia, melena, and sudden massive upper gastrointestinal bleeding in a man with cutaneous neurofibromatosis (von Recklinghausen's disease) since childhood prompted endoscopic demonstration of multiple gastric neurofibromas. One source of gastric bleeding removed by endoscopic electrosurgery proved to be a malignant schwannoma (spindle cell
J M, Petersen, D R, Ferguson
openaire +2 more sources
Journal of Computer Assisted Tomography, 1983
Neurofibromatosis or von Recklinghausen disease usually is a readily diagnosed entity, characterized by typical cutaneous lesions and a strong family history. In a variant of the usual disease, peripheral neurofibromatosis, these stigmata may be absent and accurate diagnosis may be elusive.
I R, Francis, G M, Glazer
openaire +2 more sources
Neurofibromatosis or von Recklinghausen disease usually is a readily diagnosed entity, characterized by typical cutaneous lesions and a strong family history. In a variant of the usual disease, peripheral neurofibromatosis, these stigmata may be absent and accurate diagnosis may be elusive.
I R, Francis, G M, Glazer
openaire +2 more sources
Clinical Neurology and Neurosurgery, 1982
Two patients with central form of neurofibromatosis are reported. Bilateral acoustic neuromas were diagnosed by computerized tomography (CT) scan in one and at autopsy in the other patient. The clinical and radiologic features in the first patient indicated associated bilateral optic nerve gliomas.
A K, Banerjee +3 more
openaire +2 more sources
Two patients with central form of neurofibromatosis are reported. Bilateral acoustic neuromas were diagnosed by computerized tomography (CT) scan in one and at autopsy in the other patient. The clinical and radiologic features in the first patient indicated associated bilateral optic nerve gliomas.
A K, Banerjee +3 more
openaire +2 more sources
Clinics in Plastic Surgery, 1987
The origin of neurofibromatosis (the neuroectoderm, the mesectoderm, or both primordia?) is not known. The protean manifestations of the disease cannot be explained, and classification of the various forms of orbital neurofibromatosis on the basis of specific neural involvement has never been attempted. Further studies of the pathogenesis are therefore
openaire +2 more sources
The origin of neurofibromatosis (the neuroectoderm, the mesectoderm, or both primordia?) is not known. The protean manifestations of the disease cannot be explained, and classification of the various forms of orbital neurofibromatosis on the basis of specific neural involvement has never been attempted. Further studies of the pathogenesis are therefore
openaire +2 more sources
Dermatology, 2002
Segmental neurofibromatosis is characterised by a limited, segmental distribution of cutaneous neurofibromatosis type 1 (NF1) lesions. It has been suggested that segmental NF results from a postzygotic <i>NF1</i> gene mutation, and, recently, this hypothesis has been proven in a patient with regionally distributed café-au-lait (CAL) spots ...
Schultz, E. +5 more
openaire +3 more sources
Segmental neurofibromatosis is characterised by a limited, segmental distribution of cutaneous neurofibromatosis type 1 (NF1) lesions. It has been suggested that segmental NF results from a postzygotic <i>NF1</i> gene mutation, and, recently, this hypothesis has been proven in a patient with regionally distributed café-au-lait (CAL) spots ...
Schultz, E. +5 more
openaire +3 more sources