Renieri A - Search Results

1

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Mari F, et al. Among authors: renieri a. Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22. Brain Dev. 2015. PMID: 25249037

2

Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions.

Fimiani M, Seri M, Rubegni P, Cusano R, De Aloe G, Forabosco P, Devoto M, Andreassi L, Renieri A. Fimiani M, et al. Among authors: renieri a. Arch Dermatol Res. 1999 Dec;291(12):637-42. doi: 10.1007/s004030050468. Arch Dermatol Res. 1999. PMID: 10651164

3

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A. Meloni I, et al. Among authors: renieri a. Hum Mutat. 2001;18(1):85. doi: 10.1002/humu.1157. Hum Mutat. 2001. PMID: 11439001

4

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

5

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

6

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.

7

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.

8

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A. Pescucci C, et al. Among authors: renieri a. Kidney Int. 2004 May;65(5):1598-603. doi: 10.1111/j.1523-1755.2004.00560.x. Kidney Int. 2004. PMID: 15086897 Free article.

9

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A. Ariani F, et al. Among authors: renieri a. Hum Mutat. 2004 Aug;24(2):172-7. doi: 10.1002/humu.20065. Hum Mutat. 2004. PMID: 15241799

10

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I. Renieri A, et al. J Cell Physiol. 2005 Jul;204(1):8-20. doi: 10.1002/jcp.20296. J Cell Physiol. 2005. PMID: 15690397 Review.

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