Preimplantation genetic diagnosis for neurofibromatosis type 1
نویسندگان
چکیده
منابع مشابه
Genetic Diagnosis of Neurofibromatosis type 2
Introduction Neurofibromatosis type 2 is an autosomal dominant disease caused by mutations in the NF2 gene on 22q12.2. Its protein product, merlin, supposedly plays an important role in connecting membrane proteins with the cytoskeleton by coordinating growth-factor signalling. The most common mutations are truncating and splice site mutations, showing a genotype-phenotype correlation. A high r...
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...
متن کاملPreimplantation Genetic Diagnosis
Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...
متن کاملPreimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...
متن کاملPreimplantation genetic diagnosis.
This article covers the rapidly advancing field of preimplantation genetic diagnosis (PGD), the molecular genetic analysis of cells taken from embryos formed through in vitro fertilization (IVF). The article focuses on current practices in patient management, relevant IVF and PGD procedures, molecular methods used in the genetic analysis, and technical difficulties that can affect test results....
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ژورنال
عنوان ژورنال: MHR: Basic science of reproductive medicine
سال: 2005
ISSN: 1460-2407,1360-9947
DOI: 10.1093/molehr/gah170