Ghirri P - Search Results

1

Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.

Baldinotti F, Majore S, Fogli A, Marrocco G, Ghirri P, Vuerich M, Tumini S, Boscherini B, Vetri M, Scommegna S, Rinaldi R, Simi P, Grammatico P. Baldinotti F, et al. Among authors: ghirri p. J Androl. 2008 Jan-Feb;29(1):20-8. doi: 10.2164/jandrol.107.002592. Epub 2007 Jul 3. J Androl. 2008. PMID: 17609295 Free article.

2

Early diagnosis of 5alpha-reductase deficiency in newborns.

Bertelloni S, Scaramuzzo RT, Parrini D, Baldinotti F, Tumini S, Ghirri P. Bertelloni S, et al. Among authors: ghirri p. Sex Dev. 2007;1(3):147-51. doi: 10.1159/000102103. Sex Dev. 2007. PMID: 18391525

3

Female phenotype at birth and postnatal masculinization, during the first months of life, associated with transient 5 alpha-reductase 2 deficiency in a preterm infant. A timing defect syndrome?

Vuerich M, Ghirri P, Merusi I, Cuttano A, Baldinotti F, Simi P, Migeon CJ, Boldrini A. Vuerich M, et al. Among authors: ghirri p. Minerva Pediatr. 2003 Oct;55(5 Suppl 1):82. Minerva Pediatr. 2003. PMID: 14992191 No abstract available.

4

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

Bertelloni S, Baldinotti F, Russo G, Ghirri P, Dati E, Michelucci A, Moscuzza F, Meroni S, Colombo I, Sessa MR, Baroncelli GI. Bertelloni S, et al. Among authors: ghirri p. Sex Dev. 2016;10(1):28-36. doi: 10.1159/000445090. Epub 2016 Apr 13. Sex Dev. 2016. PMID: 27070133

5

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.

Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S. Michelucci A, et al. Among authors: ghirri p. Int J Pediatr Otorhinolaryngol. 2010 Dec;74(12):1441-4. doi: 10.1016/j.ijporl.2010.09.006. Epub 2010 Oct 12. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20943277

6

[The neonate with ambiguous genitalia: differential diagnosis and emergency therapy in the first weeks of life].

Ghirri P, Cuttano A, Vuerich M, Gentile M, Boldrini A. Ghirri P, et al. Minerva Pediatr. 2003 Oct;55(5 Suppl 1):13-8. Minerva Pediatr. 2003. PMID: 14992172 Review. Italian. No abstract available.

7

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations.

Ghirri P, Vuerich M, Ferdinandusse S, Waterham HR, Guzzetta A, Bianchi MC, Boldrini A, Wanders RJ. Ghirri P, et al. Pediatr Int. 2011 Aug;53(4):583-7. doi: 10.1111/j.1442-200X.2010.03255.x. Pediatr Int. 2011. PMID: 21851493 No abstract available.

8

A clinician looks at androgen resistance.

Balducci R, Ghirri P, Brown TR, Bradford S, Boldrini A, Boscherini B, Sciarra F, Toscano V. Balducci R, et al. Among authors: ghirri p. Steroids. 1996 Apr;61(4):205-11. doi: 10.1016/0039-128x(96)00015-3. Steroids. 1996. PMID: 8733002 Free article. Review.

9

Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.

Bertini V, Ghirri P, Bicocchi MP, Simi P, Valetto A. Bertini V, et al. Among authors: ghirri p. Fertil Steril. 2010 Aug;94(3):1097.e5-8. doi: 10.1016/j.fertnstert.2010.02.013. Epub 2010 Mar 24. Fertil Steril. 2010. PMID: 20338563 Free article.

10

Neonatal outcome in newborns from mothers with endocrinopathies.

Betti M, Ceccatelli G, Belcari F, Moscuzza F, Cuttano A, Vuerich M, Boldrini A, Ghirri P. Betti M, et al. Among authors: ghirri p. Gynecol Endocrinol. 2011 Apr;27(4):248-50. doi: 10.3109/09513590.2010.487618. Epub 2010 Jun 2. Gynecol Endocrinol. 2011. PMID: 20518638 Free article.

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