Castori M - Search Results

1

De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.

Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Häberle J, Kornak U, Brancati F. Zampatti S, et al. Among authors: castori m. Am J Med Genet A. 2012 Apr;158A(4):927-31. doi: 10.1002/ajmg.a.35231. Epub 2012 Mar 12. Am J Med Genet A. 2012. PMID: 22411858 No abstract available.

2

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. Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3539-44. doi: 10.1167/iovs.05-0331. Invest Ophthalmol Vis Sci. 2005. PMID: 16186331

3

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.

Brancati F, Castori M, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: castori m. Am J Med Genet A. 2005 Dec 15;139(3):212-5. doi: 10.1002/ajmg.a.31009. Am J Med Genet A. 2005. PMID: 16278902 Review.

4

Hypochondrogenesis.

Castori M, Brancati F, Scanderbeg AC, Dallapiccola B. Castori M, et al. Pediatr Radiol. 2006 May;36(5):460-1. doi: 10.1007/s00247-005-0068-z. Epub 2006 Jan 24. Pediatr Radiol. 2006. PMID: 16432703 No abstract available.

5

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).

Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B. Castori M, et al. Am J Med Genet A. 2006 Jul 15;140(14):1573-9. doi: 10.1002/ajmg.a.31290. Am J Med Genet A. 2006. PMID: 16761296 Review.

6

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

Castori M, Brancati F, Mingarelli R, Mundlos S, Dallapiccola B. Castori M, et al. Am J Med Genet A. 2007 Jan 15;143A(2):195-9. doi: 10.1002/ajmg.a.31433. Am J Med Genet A. 2007. PMID: 17163524

7

Reticulate vascular lesions and a large head.

Castori M, Palka C, Brancati F, Mingarelli R, Dallapiccola B. Castori M, et al. Pediatr Dermatol. 2007 Sep-Oct;24(5):555-6. doi: 10.1111/j.1525-1470.2007.00519.x. Pediatr Dermatol. 2007. PMID: 17958809 No abstract available.

8

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Among authors: castori m. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636

9

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P. Castori M, et al. Am J Med Genet A. 2014 Feb;164A(2):528-34. doi: 10.1002/ajmg.a.36301. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311540 Review.

10

Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.

Ghibellini G, Brancati F, Castori M. Ghibellini G, et al. Among authors: castori m. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):107-16. doi: 10.1002/ajmg.c.31424. Epub 2015 Feb 5. Am J Med Genet C Semin Med Genet. 2015. PMID: 25654988 Review.

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