Migone N - Search Results

1

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.

Janssens K, Gershoni-Baruch R, Guañabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W. Janssens K, et al. Among authors: migone n. Nat Genet. 2000 Nov;26(3):273-5. doi: 10.1038/81563. Nat Genet. 2000. PMID: 11062463

2

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.

Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guañabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W. Janssens K, et al. Among authors: migone n. J Med Genet. 2000 Apr;37(4):245-9. doi: 10.1136/jmg.37.4.245. J Med Genet. 2000. PMID: 10745041 Free PMC article.

3

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Janssens K, et al. Among authors: migone n. J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13. J Med Genet. 2006. PMID: 15894597 Free PMC article. Review.

4

The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met.

Petrelli A, Gilestro GF, Lanzardo S, Comoglio PM, Migone N, Giordano S. Petrelli A, et al. Among authors: migone n. Nature. 2002 Mar 14;416(6877):187-90. doi: 10.1038/416187a. Nature. 2002. PMID: 11894096

5

Mutations in the lamin B1 gene are not present in multiple sclerosis.

Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Brussino A, et al. Among authors: migone n. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623

6

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. Cavalieri S, et al. Among authors: migone n. Ann Hum Genet. 2008 Jan;72(Pt 1):10-8. doi: 10.1111/j.1469-1809.2007.00399.x. Epub 2007 Oct 3. Ann Hum Genet. 2008. PMID: 17910737

7

Juvenile vertebrobasilar ischaemic stroke in a patient with Camurati-Engelmann disease.

Cerrato P, Baima C, Bergui M, Grasso M, Lentini A, Azzaro C, Bosco G, Imperiale D, Migone N, Allavena A, Bergamasco B. Cerrato P, et al. Among authors: migone n. Cerebrovasc Dis. 2005;20(4):283-4. doi: 10.1159/000087712. Epub 2005 Aug 25. Cerebrovasc Dis. 2005. PMID: 16127272 No abstract available.

8

CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert AK, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WF, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M. von Lowtzow C, et al. Among authors: migone n. BMC Med Genet. 2016 Apr 30;17(1):35. doi: 10.1186/s12881-016-0299-x. BMC Med Genet. 2016. PMID: 27138190 Free PMC article.

9

Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.

Ruggieri M, Carbonara C, Magro G, Migone N, Grasso S, Tinè A, Pavone L, Gomez MR. Ruggieri M, et al. Among authors: migone n. J Med Genet. 1997 Mar;34(3):256-60. doi: 10.1136/jmg.34.3.256. J Med Genet. 1997. PMID: 9132502 Free PMC article.

10

The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.

Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmüller U, Schneider-Mergener J, Cesareni G. Cestra G, et al. Among authors: migone n. J Biol Chem. 1999 Nov 5;274(45):32001-7. doi: 10.1074/jbc.274.45.32001. J Biol Chem. 1999. PMID: 10542231 Free article.

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