Brancati F - Search Results

1

Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I. Katzaki E, et al. Among authors: brancati f. J Hum Genet. 2008 Mar;53(3):285. doi: 10.1007/s10038-007-0239-x. J Hum Genet. 2008. PMID: 32041378

2

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.

Brancati F, Defazio G, Caputo V, Valente EM, Pizzuti A, Livrea P, Berardelli A, Dallapiccola B. Brancati F, et al. Mov Disord. 2002 Mar;17(2):392-7. doi: 10.1002/mds.10077. Mov Disord. 2002. PMID: 11921130

3

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Valente EM, et al. Among authors: brancati f. Ann Neurol. 2002 Jun;51(6):681-5. doi: 10.1002/ana.10204. Ann Neurol. 2002. PMID: 12112072

4

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

Sarkozy A, Mingarelli R, Brancati F, Dallapiccola B. Sarkozy A, et al. Among authors: brancati f. Am J Med Genet. 2002 Sep 1;111(4):412-4. doi: 10.1002/ajmg.10577. Am J Med Genet. 2002. PMID: 12210302

5

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. Valente EM, et al. Among authors: brancati f. Am J Hum Genet. 2003 Sep;73(3):663-70. doi: 10.1086/378241. Epub 2003 Aug 7. Am J Hum Genet. 2003. PMID: 12908130 Free PMC article.

6

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Brancati F, et al. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41. doi: 10.1136/jnnp.74.9.1339. J Neurol Neurosurg Psychiatry. 2003. PMID: 12933953 Free PMC article.

7

Recurrent triploidy of maternal origin.

Brancati F, Mingarelli R, Dallapiccola B. Brancati F, et al. Eur J Hum Genet. 2003 Dec;11(12):972-4. doi: 10.1038/sj.ejhg.5201076. Eur J Hum Genet. 2003. PMID: 14508508

8

Ablepharon-macrostomia syndrome in a 46-year-old woman.

Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Brancati F, et al. Am J Med Genet A. 2004 May 15;127A(1):96-98. doi: 10.1002/ajmg.a.20658. Am J Med Genet A. 2004. PMID: 15103726

9

A novel family with an unusual early-onset generalized dystonia.

Fabbrini G, Brancati F, Vacca L, Valente EM, Nemeth A, Meesaq A, Sykes N, Dallapiccola B, Berardelli A. Fabbrini G, et al. Among authors: brancati f. Mov Disord. 2005 Jan;20(1):81-6. doi: 10.1002/mds.20267. Mov Disord. 2005. PMID: 15390042

10

KBG syndrome in a cohort of Italian patients.

Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B. Brancati F, et al. Am J Med Genet A. 2004 Dec 1;131(2):144-9. doi: 10.1002/ajmg.a.30292. Am J Med Genet A. 2004. PMID: 15523620

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