Castori M - Search Results

1

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.

2

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.

Castori M, Douzgou S, Silvestri E, Encha-Razavi F, Dallapiccola B. Castori M, et al. Am J Med Genet A. 2007 Feb 1;143A(3):277-84. doi: 10.1002/ajmg.a.31591. Am J Med Genet A. 2007. PMID: 17230485

3

Sirenomelia and VACTERL association in the offspring of a woman with diabetes.

Castori M, Silvestri E, Cappellacci S, Binni F, Sforzolini GS, Grammatico P. Castori M, et al. Am J Med Genet A. 2010 Jul;152A(7):1803-7. doi: 10.1002/ajmg.a.33460. Am J Med Genet A. 2010. PMID: 20583159

4

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.

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

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.

Castori M, Servadei F, Laino L, Pascolini G, Fabbri R, Cifani AE, Sforzolini GS, Silvestri E, Grammatico P. Castori M, et al. Am J Med Genet A. 2016 Mar;170(3):676-87. doi: 10.1002/ajmg.a.37510. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26687031

7

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

8

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: castori m. Am J Med Genet A. 2007 Dec 15;143A(24):2937-43. doi: 10.1002/ajmg.a.32092. Am J Med Genet A. 2007. PMID: 18000908

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

Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.

Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I, Torricelli F, Majore S, Grammatico P. Castori M, et al. Am J Med Genet A. 2009 Oct;149A(10):2193-9. doi: 10.1002/ajmg.a.32763. Am J Med Genet A. 2009. PMID: 19731360

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