126 novel mutations in Italian patients with neurofibromatosis type 1-Reference-Cited by-同舟云学术

126 novel mutations in Italian patients with neurofibromatosis type 1

Published:2015-07-07 Issue:6 Volume:3 Page:513-525
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Bianchessi Donatella¹,Morosini Sara¹,Saletti Veronica²,Ibba Maria Cristina¹,Natacci Federica³,Esposito Silvia²,Cesaretti Claudia³,Riva Daria²,Finocchiaro Gaetano¹,Eoli Marica¹

Affiliation:

1. Molecular Neuro-oncology; IRCCS Foundation, “C. Besta” Neurological Institute; Milan Italy

2. Developmental Neurology; IRCCS Foundation, “C. Besta” Neurological Institute; Milan Italy

3. Medical Genetics; IRCSS Foundation, Cà Grande-Ospedale Maggiore Policlinico; Milan Italy

Funder

Italian Ministry of Health

Associazione Italiana Tumori Cerebrali

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.161/fullpdf

Reference52 articles.

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2. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2;Bengesser;Hum. Mutat.,2010

3. Legius syndrome, an update. Molecular pathology of mutations in SPRED1;Brems;Keio J. Med.,2013

4. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype;Brems;Nat. Genet.,2007

5. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis;Burkitt Wright;J. Med. Genet.,2013

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