Brancati F - Search Results

1

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F. Parri V, et al. Among authors: brancati f. Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461111 Free PMC article.

2

A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.

Semprini S, Tacconelli A, Capon F, Brancati F, Dallapiccola B, Novelli G. Semprini S, et al. Among authors: brancati f. Genet Test. 2001 Spring;5(1):33-7. doi: 10.1089/109065701750168662. Genet Test. 2001. PMID: 11336398

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

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

Defazio G, Brancati F, Valente EM, Caputo V, Pizzuti A, Martino D, Abbruzzese G, Livrea P, Berardelli A, Dallapiccola B. Defazio G, et al. Among authors: brancati f. Mov Disord. 2003 Feb;18(2):207-12. doi: 10.1002/mds.10314. Mov Disord. 2003. PMID: 12539217

6

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.

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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