Renieri A - Search Results

1

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. Garavelli L, et al. Among authors: renieri a. Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Am J Med Genet A. 2009. PMID: 19215041 Review.

2

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Renieri A, Seri M, Myers JC, Pihlajaniemi T, Massella L, Rizzoni G, De Marchi M. Renieri A, et al. Hum Mol Genet. 1992 May;1(2):127-9. doi: 10.1093/hmg/1.2.127. Hum Mol Genet. 1992. PMID: 1363780

3

Alport syndrome caused by a 5' deletion within the COL4A5 gene.

Renieri A, Seri M, Myers JC, Pihlajaniemi T, Sessa A, Rizzoni G, De Marchi M. Renieri A, et al. Hum Genet. 1992 Apr;89(1):120-1. doi: 10.1007/BF00207059. Hum Genet. 1992. PMID: 1577459

4

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massella L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, et al. Renieri A, et al. Hum Genet. 1993 Oct;92(4):417-20. doi: 10.1007/BF01247348. Hum Genet. 1993. PMID: 8225325

5

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A. Meloni I, et al. Among authors: renieri a. Am J Hum Genet. 2000 Oct;67(4):982-5. doi: 10.1086/303078. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986043 Free PMC article.

6

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli AM, Williamson K, van Heyningen V, Renieri A. Malandrini A, et al. Among authors: renieri a. Clin Genet. 2001 Aug;60(2):151-4. doi: 10.1034/j.1399-0004.2001.600210.x. Clin Genet. 2001. PMID: 11553050

7

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Zappella M, et al. Among authors: renieri a. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7. doi: 10.1002/ajmg.b.10070. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707946

8

Rett syndrome: the complex nature of a monogenic disease.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F. Renieri A, et al. J Mol Med (Berl). 2003 Jun;81(6):346-54. doi: 10.1007/s00109-003-0444-9. Epub 2003 May 16. J Mol Med (Berl). 2003. PMID: 12750821 Review.

9

Type-IV collagen related diseases.

Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Pescucci C, et al. Among authors: renieri a. J Nephrol. 2003 Mar-Apr;16(2):314-6. J Nephrol. 2003. PMID: 12768082 Review.

10

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.

Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A, Schwarze U, Byers PH, Renieri A. Palmeri S, et al. Among authors: renieri a. Clin Genet. 2003 Jun;63(6):510-5. doi: 10.1034/j.1399-0004.2003.00075.x. Clin Genet. 2003. PMID: 12786757

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