Renieri A - Search Results

1

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.

Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Mari F, et al. Among authors: renieri a. Eur J Hum Genet. 2009 Sep;17(9):1141-7. doi: 10.1038/ejhg.2009.27. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277063 Free PMC article.

2

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.

3

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.

Giordano N, Gennari L, Bruttini M, Mari F, Meloni I, Baldi C, Capoccia S, Geraci S, Merlotti D, Amendola A, Martini G, Nuti R, Gennari C, Renieri A. Giordano N, et al. Among authors: renieri a. J Med Genet. 2003 Feb;40(2):132-5. doi: 10.1136/jmg.40.2.132. J Med Genet. 2003. PMID: 12566523 Free PMC article. No abstract available.

4

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.

5

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A. Pescucci C, et al. Among authors: renieri a. Clin Genet. 2003 Dec;64(6):497-501. doi: 10.1046/j.1399-0004.2003.00176.x. Clin Genet. 2003. PMID: 14986829

6

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

7

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. Mari F, et al. Among authors: renieri a. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271

8

Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Zappella M, Mari F, Renieri A. Zappella M, et al. Among authors: renieri a. Eur J Pediatr. 2005 Nov;164(11):710; author reply 711-2. doi: 10.1007/s00431-005-1717-9. Epub 2005 Jul 12. Eur J Pediatr. 2005. PMID: 16010564 No abstract available.

9

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, Manoukian S, Peissel B, Giachino D, Pasini B, Acquaviva A, Caporossi A, Frezzotti R, Renieri A, Bruttini M. Sampieri K, et al. Among authors: renieri a. J Hum Genet. 2006;51(3):209-216. doi: 10.1007/s10038-005-0348-3. Epub 2006 Feb 4. J Hum Genet. 2006. PMID: 16463005

10

2q24-q31 deletion: report of a case and review of the literature.

Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. Pescucci C, et al. Among authors: renieri a. Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. doi: 10.1016/j.ejmg.2006.09.001. Epub 2006 Sep 17. Eur J Med Genet. 2007. PMID: 17088112 Review.

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