Rinaldi MM - Search Results

1

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).

Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, Musacchio A, Sorrentino V. Orrico A, et al. Among authors: rinaldi mm. FEBS Lett. 2000 Aug 4;478(3):216-20. doi: 10.1016/s0014-5793(00)01857-3. FEBS Lett. 2000. PMID: 10930571 Free article.

2

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Orrico A, et al. Among authors: rinaldi mm. Eur J Hum Genet. 2004 Jan;12(1):16-23. doi: 10.1038/sj.ejhg.5201081. Eur J Hum Genet. 2004. PMID: 14560308

3

Phenotypic variability in the chromosome 9 ring.

Cavaliere ML, Rinaldi MM, Castelluccio P, Cioffi C, Vendemmia M, Vendemmia S. Cavaliere ML, et al. Among authors: rinaldi mm. Acta Biomed Ateneo Parmense. 1997;68 Suppl 1:85-9. Acta Biomed Ateneo Parmense. 1997. PMID: 10021722 Review.

4

[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)].

Scarano G, Rinaldi MM, Cavaliere ML, Esposito M, Sicolo A, Santulli B, Stabile M, Fasano R, Ventruto V. Scarano G, et al. Among authors: rinaldi mm. Pediatr Med Chir. 1981 Jul-Aug;3(4):323-5. Pediatr Med Chir. 1981. PMID: 7343926 Italian.

5

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P. de Crecchio G, et al. Among authors: rinaldi e, rinaldi mm. Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. Clin Genet. 1998. PMID: 9831343

6

[Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases].

Ventruto V, Festa B, Renda S, Stabile M, Rinaldi A, Rinaldi MM, Cavaliere ML, Lonardo F, Garofalo S. Ventruto V, et al. Among authors: rinaldi a, rinaldi mm. Pathologica. 1983;75 Suppl:258-61. Pathologica. 1983. PMID: 6680428 Italian. No abstract available.

7

An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.

Simonell F, Testa F, Nesti A, de Crecchio G, Bifani M, Cavaliere ML, Rinaldi E, Rinaldi MM. Simonell F, et al. Among authors: rinaldi e, rinaldi mm. J Pediatr Ophthalmol Strabismus. 2002 Sep-Oct;39(5):288-92. doi: 10.3928/0191-3913-20020901-09. J Pediatr Ophthalmol Strabismus. 2002. PMID: 12353901 Review.

8

Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).

Ventruto V, Pisciotta R, Renda S, Festa B, Rinaldi MM, Stabile M, Cavaliere ML, Esposito M. Ventruto V, et al. Among authors: rinaldi mm. Am J Med Genet. 1983 Dec;16(4):589-94. doi: 10.1002/ajmg.1320160416. Am J Med Genet. 1983. PMID: 6660251

9

Ring (13),t(2;6) associated with familial fragile (16).

Ventruto V, Rinaldi A, Renda S, Stabile M, Rinaldi MM, Cavaliere ML, Conte N, Aveta V. Ventruto V, et al. Among authors: rinaldi a, rinaldi mm. J Med Genet. 1984 Jun;21(3):233. doi: 10.1136/jmg.21.3.233. J Med Genet. 1984. PMID: 6748026 Free PMC article. No abstract available.

10

[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?].

Rinaldi MM, Militerni R, Pascotto A, Scarano G, Renda S, Cavaliere ML, Santulli B, Esposito M, Ventruto V. Rinaldi MM, et al. Pediatr Med Chir. 1982 Sep-Oct;4(5):559-61. Pediatr Med Chir. 1982. PMID: 6927358 Italian.

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