Chiarelli F - Search Results

1

De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.

Alfonsi M, Palka C, Morizio E, Gatta V, Antonucci I, Ruggeri G, Chiarelli F, Stuppia L, Palka G, Calabrese G. Alfonsi M, et al. Among authors: chiarelli f. Clin Dysmorphol. 2013 Jul;22(3):132-134. doi: 10.1097/MCD.0b013e328363023b. Clin Dysmorphol. 2013. PMID: 23722703 No abstract available.

2

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.

Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G. Palka G, et al. Among authors: chiarelli f. Clin Genet. 2000 Jun;57(6):449-53. doi: 10.1034/j.1399-0004.2000.570609.x. Clin Genet. 2000. PMID: 10905666

3

SHOX mutations detected by FISH and direct sequencing in patients with short stature.

Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Petreschi F, Anzellotti MT, Pomilio M, Chiarelli F, Tumini S, Palka G. Stuppia L, et al. Among authors: chiarelli f. J Med Genet. 2003 Feb;40(2):E11. doi: 10.1136/jmg.40.2.e11. J Med Genet. 2003. PMID: 12566529 Free PMC article. No abstract available.

4

Deletion of the SHOX gene in patients with short stature of unknown cause.

Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G. Morizio E, et al. Among authors: chiarelli f. Am J Med Genet A. 2003 Jun 15;119A(3):293-6. doi: 10.1002/ajmg.a.20198. Am J Med Genet A. 2003. PMID: 12784295

5

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.

Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L. Palka C, et al. Among authors: chiarelli f. Clin Genet. 2010 Mar;77(3):298-301. doi: 10.1111/j.1399-0004.2009.01348.x. Clin Genet. 2010. PMID: 20447142 No abstract available.

6

Genital sanguineous discharge in prepuberty: a case of mullerian papilloma of vagina in a nine-year-old girl.

Tumini S, Carinci S, Anzellotti MT, Chiesa PL, Rossi C, Stuppia L, Bertelloni S, Chiarelli F. Tumini S, et al. Among authors: chiarelli f. J Pediatr Endocrinol Metab. 2010 Aug;23(8):831-2. doi: 10.1515/jpem.2010.133. J Pediatr Endocrinol Metab. 2010. PMID: 21073126

7

Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.

Palka C, Alfonsi M, Morizio E, Soranno A, La Rovere D, Matarrelli B, Rullo AL, Zori R, Chiarelli F, Calabrese G. Palka C, et al. Among authors: chiarelli f. Eur J Med Genet. 2011 May-Jun;54(3):333-6. doi: 10.1016/j.ejmg.2011.02.003. Epub 2011 Feb 24. Eur J Med Genet. 2011. PMID: 21354345

8

A new case of pure partial 7q duplication.

Alfonsi M, Palka C, Morizio E, Gatta V, Franchi S, Guanciali Franchi P, Zori R, Calabrese G, Palka G, Chiarelli F. Alfonsi M, et al. Among authors: chiarelli f. Cytogenet Genome Res. 2012;136(1):1-5. doi: 10.1159/000334111. Epub 2011 Nov 12. Cytogenet Genome Res. 2012. PMID: 22086126

9

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.

Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, Morizio E, Stuppia L, Calabrese G, Zori R, Chiarelli F, Palka G. Palka C, et al. Among authors: chiarelli f. Pediatrics. 2012 Jan;129(1):e183-8. doi: 10.1542/peds.2010-2094. Epub 2011 Dec 5. Pediatrics. 2012. PMID: 22144704

10

16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer.

Palka Bayard de Volo C, Alfonsi M, Gatta V, Novelli A, Bernardini L, Fantasia D, Antonucci I, Angelucci D, Zori R, Stuppia L, Chiarelli F, Calabrese G. Palka Bayard de Volo C, et al. Among authors: chiarelli f. Gene. 2012 May 1;498(2):328-31. doi: 10.1016/j.gene.2012.01.028. Epub 2012 Feb 3. Gene. 2012. PMID: 22326525

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