Genetic Counseling, Reproductive Behavior and Future Reproductive Intentions of People with Neurofibromatosis Type 1 (NF1)
نویسندگان
چکیده
منابع مشابه
Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families.
Eighty-one subjects (56 affected patients and 25 parents of isolated affected cases) from 63 families with neurofibromatosis type 1 (NF1) on the North Western Regional Genetic Family Register (NWRGFR) were interviewed. Patients were interviewed either before (n = 26) or after (n = 55) genetic counselling. In the group as a whole, knowledge of the clinical features and the genetic aspects of the...
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and polypeptides in growth, differentiation, and recognition. The information presented consists of current research in areas of contemporary interest. References are adequate for further investigation by interested readers. However, only the readers who maintain a comprehensive knowledge of central nervous system proteins will appreciate the full value of the text. The book reveals the ubiquit...
متن کاملNeurofibromatosis type 1 (NF1): diagnosis and management.
Neurofibromatosis 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 neurofibromin, the NF1 protein, controls c...
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We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
متن کاملNF1 gene and neurofibromatosis 1.
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features ...
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ژورنال
عنوان ژورنال: Journal of Genetic Counseling
سال: 1998
ISSN: 1059-7700
DOI: 10.1023/a:1022020000598