Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant-Reference-Cited by-同舟云学术

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant

Published:2008-04-23 Issue:6 Volume:47 Page:281-284
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Grifa Anna,Piemontese Maria Rosaria,Melchionda Salvatore,Origone Paola,Zelante Leopoldo,Coviello Domenico,Fratta Giovanni,Dallapiccola Bruno,Balestrazzi Paolo,Ajmar Franco,Gasparini Paolo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb03965.x/fullpdf

Reference19 articles.

1. Development of RnaSSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations;Bisceglia;Hum Mutat,1994

2. A major segment of the neurofibromatosis type 1 gene; cDNA sequence genomic structure, and point mutations;Cawthon;Cell,1990

3. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular distrophy families, using dinucleotide repeat polymorphisms;Clemens;Am J Hum Genet,1991

4. Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases;Gasparini;Mol Cell Probes,1993

5. An Rsa I polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene;Hoffmeyer;Hum Genet,1994

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Germline Variation in the Progesterone Receptor Gene Increases Transcriptional Activity and May Modify Ovarian Cancer Risk;The Journal of Clinical Endocrinology & Metabolism;2004-12-01

2. Malignant peripheral nerve sheath tumors;Neurosurgery Clinics of North America;2004-04

3. The Genoa experience of prenatal diagnosis in NF1;Prenatal Diagnosis;2000

4. Ras Activation in Astrocytomas and Neurofibromas;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;1998-11

5. Neurofibromatosis Type 1: Piecing the Puzzle Together;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;1998-08