Balestri P - Search Results

1

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. Botta E, et al. Among authors: balestri p. Hum Mutat. 2007 Jan;28(1):92-6. doi: 10.1002/humu.20419. Hum Mutat. 2007. PMID: 16977596

2

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

Fois A, Balestri P, Calvieri S, Zampetti M, Giustini S, Stefanini M, Lagomarsini P. Fois A, et al. Among authors: balestri p. Eur J Pediatr. 1988 May;147(4):439-41. doi: 10.1007/BF00496431. Eur J Pediatr. 1988. PMID: 3396600

3

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D. Diodato D, et al. Among authors: balestri p. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24. Hum Mutat. 2014. PMID: 24827421 Free PMC article.

4

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Pramparo T, Grosso S, Messa J, Zatterale A, Bonaglia MC, Chessa L, Balestri P, Rocchi M, Zuffardi O, Giorda R. Pramparo T, et al. Among authors: balestri p. Hum Genet. 2005 Oct;118(1):76-81. doi: 10.1007/s00439-005-0004-1. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16001262

5

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.

Sestini R, Vivarelli R, Balestri P, Ammannati F, Montali E, Papi L. Sestini R, et al. Among authors: balestri p. Hum Genet. 2000 Oct;107(4):366-71. doi: 10.1007/s004390000378. Hum Genet. 2000. PMID: 11129337

6

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. Mari F, et al. Among authors: balestri p. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271

7

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Mari F, et al. Among authors: balestri p. Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22. Brain Dev. 2015. PMID: 25249037

8

Craniofacial dyssynostosis: case report and review.

Grosso S, Vivarelli R, Muraca MC, Berardi R, Marconcini S, Morgese G, Balestri P. Grosso S, et al. Among authors: balestri p. Am J Med Genet A. 2004 Sep 1;129A(3):300-2. doi: 10.1002/ajmg.a.30186. Am J Med Genet A. 2004. PMID: 15326632

9

Giant axonal neuropathy. Endocrinological and histological studies.

Fois A, Balestri P, Farnetani MA, Berardi R, Mattei R, Laurenzi E, Alessandrini C, Gerli R, Ribuffo A, Calvieri S. Fois A, et al. Among authors: balestri p. Eur J Pediatr. 1985 Sep;144(3):274-80. doi: 10.1007/BF00451961. Eur J Pediatr. 1985. PMID: 4054168

10

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): a follow-up study.

Fois A, Calistri L, Balestri P, Vivarelli R, Bartalini G, Mancini L, Berardi A, Vanni M. Fois A, et al. Among authors: balestri p. Eur J Pediatr. 1993 Jun;152(6):500-4. doi: 10.1007/BF01955059. Eur J Pediatr. 1993. PMID: 8335018

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

178 results

Search Page

Filters