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Constipation in Children With Neurofibromatosis Type 1
Journal of Pediatric Gastroenterology and Nutrition, 2013ABSTRACTBackground and Objectives:Neurofibromatosis type 1 (NF1) is a hereditary, heterogenic, and multiorganic disease. The NF1 phenotype shows great variability in expressivity and often includes symptoms from the central and peripheral nervous systems. Bowel symptoms have been reported, but gastrointestinal function in NF1 remains to be described in
Pedersen, Cecilie E; id_orcid 0000-0003-3815-0613 +4 more
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Neurofibromatosis Type 1 and Precocious Puberty
Journal of Pediatric Endocrinology and Metabolism, 2000Since neurofibromatosis type 1 (NF1) is a well known cause of precocious puberty (PP), we reviewed 412 NF1 pediatric patients to evaluate the prevalence of PP, the association with optic pathway tumors (OPT), and other clinical, auxological and hormonal data.
Virdis R. +9 more
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Archives of Neurology, 1993
Recent advances in molecular genetics have enabled researchers to more rapidly identify human disease genes. The identification of these genes by positional cloning has opened the door to a better understanding of such diseases through a more complete appreciation of the molecular biologic processes that underlie them.
D H, Gutmann, F S, Collins
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Recent advances in molecular genetics have enabled researchers to more rapidly identify human disease genes. The identification of these genes by positional cloning has opened the door to a better understanding of such diseases through a more complete appreciation of the molecular biologic processes that underlie them.
D H, Gutmann, F S, Collins
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Neurofibromatosis type 1 - an update
Seminars in Pediatric NeurologyNeurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas ...
Manikum Moodley, Karla Robles Lopez
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Epidemiology of neurofibromatosis type 1
American Journal of Medical Genetics, 1999The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalence is somewhat higher in young children than in adults, a difference that probably results at least in part from the early death of some NF1 patients.
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Anemic Nevus in Neurofibromatosis Type 1
Dermatology, 2013Anemic nevus (AN) is a congenital-vascular anomaly of the skin. Although it is a benign and asymptomatic lesion, it could be a frequent ‘cutaneous finding' in neurofibromatosis type 1 (NF1). We performed a retrospective analysis to detect the prevalence of AN in all children with a presumptive diagnosis of NF1 treated in our center.
G. Tadini +5 more
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Vasculopathy in Neurofibromatosis Type 1
Radiology, 2023Azadehsadat Esfahani, Ayaz Aghayev
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Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis
International Journal of Molecular Sciences, 2021Ryota Tamura, Tamura Ryota
exaly
Neurofibromatosis type 1 in childhood
The Journal of Pediatrics, 1990R, Listernick, J, Charrow
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