Castori M - Search Results

1

Novel SMAD4 mutation causing Myhre syndrome.

Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M. Caputo V, et al. Among authors: castori m. Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715504

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

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.

4

A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma.

Castori M, Silvestri E, Nunnari J, Grammatico P, Dallapiccola B. Castori M, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1391-3. doi: 10.1002/ajmg.a.31763. Am J Med Genet A. 2007. PMID: 17497722 No abstract available.

5

Pai syndrome: first patient with agenesis of the corpus callosum and literature review.

Castori M, Rinaldi R, Bianchi A, Caponetti A, Assumma M, Grammatico P. Castori M, et al. Birth Defects Res A Clin Mol Teratol. 2007 Oct;79(10):673-9. doi: 10.1002/bdra.20392. Birth Defects Res A Clin Mol Teratol. 2007. PMID: 17803202 Review.

6

Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female.

Castori M, Majore S, Romanelli F, Didona B, Grammatico P, Zambruno G. Castori M, et al. Eur J Dermatol. 2008 Jan-Feb;18(1):22-5. doi: 10.1684/ejd.2008.0305. Epub 2007 Dec 18. Eur J Dermatol. 2008. PMID: 18086584

7

VACTERL association and maternal diabetes: a possible causal relationship?

Castori M, Rinaldi R, Capocaccia P, Roggini M, Grammatico P. Castori M, et al. Birth Defects Res A Clin Mol Teratol. 2008 Mar;82(3):169-72. doi: 10.1002/bdra.20432. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18181216

8

Phacomatosis cesioflammea with unilateral lipohypoplasia.

Castori M, Rinaldi R, Angelo C, Zambruno G, Grammatico P, Happle R. Castori M, et al. Am J Med Genet A. 2008 Feb 15;146A(4):492-5. doi: 10.1002/ajmg.a.32165. Am J Med Genet A. 2008. PMID: 18203153

9

Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association.

Castori M, Rinaldi R, Cappellacci S, Grammatico P. Castori M, et al. Am J Med Genet A. 2008 May 15;146A(10):1259-66. doi: 10.1002/ajmg.a.32288. Am J Med Genet A. 2008. PMID: 18386801 Review.

10

A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome.

Castori M, Covaciu C, Rinaldi R, Grammatico P, Paradisi M. Castori M, et al. J Am Acad Dermatol. 2008 Nov;59(5 Suppl):S92-8. doi: 10.1016/j.jaad.2008.05.016. J Am Acad Dermatol. 2008. PMID: 19119135

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