Di Battista E - Search Results

1

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Gimelli G, et al. Among authors: di battista e. Eur J Hum Genet. 2007 Jan;15(1):76-80. doi: 10.1038/sj.ejhg.5201719. Epub 2006 Oct 25. Eur J Hum Genet. 2007. PMID: 17063144

2

The phenotype of a 45,X male with a Y/18 translocation.

Gimelli G, Cinti R, Varone P, Naselli A, Di Battista E, Pezzolo A. Gimelli G, et al. Among authors: di battista e. Clin Genet. 1996 Jan;49(1):37-41. doi: 10.1111/j.1399-0004.1996.tb04322.x. Clin Genet. 1996. PMID: 8721570

3

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E. Capra V, et al. Among authors: di battista e. Am J Med Genet A. 2014 Feb;164A(2):495-9. doi: 10.1002/ajmg.a.36283. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311370

4

Blood cell mitochondrial DNA content and premature ovarian aging.

Bonomi M, Somigliana E, Cacciatore C, Busnelli M, Rossetti R, Bonetti S, Paffoni A, Mari D, Ragni G, Persani L; Italian Network for the study of Ovarian Dysfunctions. Bonomi M, et al. PLoS One. 2012;7(8):e42423. doi: 10.1371/journal.pone.0042423. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22879975 Free PMC article.

5

Collectrin gene screening in Turner syndrome patients with kidney malformation.

Pasquali L, d'Annunzio G, Gastaldi R, Di Battista E, Calcaterra V, Larizza D, Lorini R, D'Amato E. Pasquali L, et al. Among authors: di battista e. J Genet. 2009 Apr;88(1):105-8. doi: 10.1007/s12041-009-0015-0. J Genet. 2009. PMID: 19417552 No abstract available.

6

Statural growth and skeletal maturation in rheumatic prepubertal children treated with a third generation glucocorticoid (deflazacort) versus prednisone. An interim study.

Vignolo M, Milani S, Imbimbo B, Naselli A, Di Battista E, Piaggio G, Leveratto L, Morreale G, Sardella ML, Corsini M, et al. Vignolo M, et al. Among authors: di battista e. Clin Exp Rheumatol. 1991 Jan-Feb;9 Suppl 6:41-5. Clin Exp Rheumatol. 1991. PMID: 2060177 Clinical Trial.

7

Use of the new US90 standards for TW-RUS skeletal maturity scores in youths from the Italian population.

Vignolo M, Naselli A, Magliano P, Di Battista E, Aicardi M, Aicardi G. Vignolo M, et al. Among authors: di battista e. Horm Res. 1999;51(4):168-72. doi: 10.1159/000023352. Horm Res. 1999. PMID: 10474017

8

Long-term follow-up of skeletal dysplasia in thalassaemia major.

Naselli A, Vignolo M, Di Battista E, Garzia P, Forni GL, Traverso T, Aicardi G. Naselli A, et al. Among authors: di battista e. J Pediatr Endocrinol Metab. 1998;11 Suppl 3:817-25. J Pediatr Endocrinol Metab. 1998. PMID: 10091152

9

Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation.

Naselli A, Vignolo M, Di Battista E, Papale V, Aicardi G, Becchetti S, Tomà P. Naselli A, et al. Among authors: di battista e. Pediatr Radiol. 1998 Nov;28(11):851-5. doi: 10.1007/s002470050481. Pediatr Radiol. 1998. PMID: 9799317 Review.

10

Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS).

Garrè ML, Capra V, Di Battista E, Giampietri L, Nozza P, Raso A, Pezzolo A, Rossi A, Milanaccio C, Pavanello M, Naselli A. Garrè ML, et al. Among authors: di battista e. Childs Nerv Syst. 2007 Feb;23(2):219-23. doi: 10.1007/s00381-006-0179-3. Epub 2006 Oct 13. Childs Nerv Syst. 2007. PMID: 17058088

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