Rinaldi R - Search Results

1

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

Striano P, Malacarne M, Cavani S, Pierluigi M, Rinaldi R, Cavaliere ML, Rinaldi MM, De Bernardo C, Coppola A, Pintaudi M, Gaggero R, Grammatico P, Striano S, Dallapiccola B, Zara F, Faravelli F. Striano P, et al. Among authors: rinaldi r, rinaldi mm. Am J Med Genet A. 2006 Sep 15;140(18):1944-9. doi: 10.1002/ajmg.a.31435. Am J Med Genet A. 2006. PMID: 16906558

2

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. Among authors: rinaldi r. 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.

3

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype.

Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P. Rinaldi R, et al. Am J Med Genet A. 2003 Apr 15;118A(2):122-6. doi: 10.1002/ajmg.a.10093. Am J Med Genet A. 2003. PMID: 12655492 Review.

4

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

Cecconi M, Forzano F, Rinaldi R, Cappellacci S, Grammatico P, Faravelli F, Dagna Bricarelli F, Di Maria E, Grasso M. Cecconi M, et al. Among authors: rinaldi r. J Mol Diagn. 2008 May;10(3):272-5. doi: 10.2353/jmoldx.2008.070163. Epub 2008 Apr 10. J Mol Diagn. 2008. PMID: 18403614 Free PMC article.

5

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

Cappellacci S, Martinelli S, Rinaldi R, Martinelli E, Parisi P, Mancini B, Pescosolido R, Grammatico P. Cappellacci S, et al. Among authors: rinaldi r. Am J Med Genet A. 2006 Jun 1;140(11):1203-7. doi: 10.1002/ajmg.a.31219. Am J Med Genet A. 2006. PMID: 16652357

6

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. Among authors: rinaldi r. 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.

7

Phacomatosis cesioflammea with unilateral lipohypoplasia.

Castori M, Rinaldi R, Angelo C, Zambruno G, Grammatico P, Happle R. Castori M, et al. Among authors: rinaldi r. 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

8

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

Castori M, Covaciu C, Rinaldi R, Grammatico P, Paradisi M. Castori M, et al. Among authors: rinaldi r. 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

9

Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection.

Grammatico P, Roccella M, De Bernardo C, Roccella F, Grammatico B, Rinaldi R, Del Porto G. Grammatico P, et al. Among authors: rinaldi r. Genet Couns. 1998;9(4):259-64. Genet Couns. 1998. PMID: 9894162

10

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. Among authors: rinaldi r. 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.

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