Brancati F - Search Results

1

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. Louie CM, et al. Among authors: brancati f. Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17. Nat Genet. 2010. PMID: 20081859 Free PMC article.

2

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

3

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.

4

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

5

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.

Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B. Brancati F, et al. J Med Genet. 2003 Nov;40(11):849-53. doi: 10.1136/jmg.40.11.849. J Med Genet. 2003. PMID: 14627680 Free PMC article. No abstract available.

6

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. Brancati F, et al. J Med Genet. 2004 Mar;41(3):188-92. doi: 10.1136/jmg.2003.012872. J Med Genet. 2004. PMID: 14985379 Free PMC article. No abstract available.

7

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

8

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

9

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

10

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.

Castori M, Valente EM, Clementi M, Tormene AP, Brancati F, Caputo V, Dallapiccola B. Castori M, et al. Among authors: brancati f. Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3539-44. doi: 10.1167/iovs.05-0331. Invest Ophthalmol Vis Sci. 2005. PMID: 16186331

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