Pignata C - Search Results

1

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.

Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Cottrell E, et al. Among authors: pignata c. J Clin Endocrinol Metab. 2021 Jul 28:dgab550. doi: 10.1210/clinem/dgab550. Online ahead of print. J Clin Endocrinol Metab. 2021. PMID: 34453441

2

Abnormal GH receptor signaling in children with idiopathic short stature.

Salerno M, Balestrieri B, Matrecano E, Officioso A, Rosenfeld RG, Di Maio S, Fimiani G, Ursini MV, Pignata C. Salerno M, et al. Among authors: pignata c. J Clin Endocrinol Metab. 2001 Aug;86(8):3882-8. doi: 10.1210/jcem.86.8.7759. J Clin Endocrinol Metab. 2001. PMID: 11502828

3

Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.

Ursini MV, Gaetaniello L, Ambrosio R, Matrecano E, Apicella AJ, Salerno MC, Pignata C. Ursini MV, et al. Among authors: pignata c. Clin Exp Immunol. 2002 Sep;129(3):502-9. doi: 10.1046/j.1365-2249.2002.01823.x. Clin Exp Immunol. 2002. PMID: 12197892 Free PMC article.

4

Allogeneic bone marrow transplantation restores IGF-I production and linear growth in a gamma-SCID patient with abnormal growth hormone receptor signaling.

Salerno M, Busiello R, Esposito V, Cosentini E, Adriani M, Selleri C, Rotoli B, Pignata C. Salerno M, et al. Among authors: pignata c. Bone Marrow Transplant. 2004 Apr;33(7):773-5. doi: 10.1038/sj.bmt.1704421. Bone Marrow Transplant. 2004. PMID: 14767497

5

Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE.

Capalbo D, Elefante A, Spagnuolo MI, Mazza C, Betterle C, Pignata C, Salerno M. Capalbo D, et al. Among authors: pignata c. Clin Endocrinol (Oxf). 2008 Sep;69(3):511-3. doi: 10.1111/j.1365-2265.2008.03206.x. Epub 2008 Jan 31. Clin Endocrinol (Oxf). 2008. PMID: 18248641 No abstract available.

6

Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.

Capalbo D, Mazza C, Giordano R, Improda N, Arvat E, Cervato S, Morlin L, Pignata C, Betterle C, Salerno M. Capalbo D, et al. Among authors: pignata c. J Endocrinol Invest. 2012 Feb;35(2):169-73. doi: 10.3275/7677. Epub 2011 Apr 20. J Endocrinol Invest. 2012. PMID: 21508664 Free article.

7

Intergenerational anticipation of disease onset in people with multiple autoimmune syndrome.

Giardino G, Aloj G, Cirillo E, Capalbo D, Maio F, Salerno M, Franzese A, Pignata C. Giardino G, et al. Among authors: pignata c. Diabetes Res Clin Pract. 2011 Nov;94(2):e37-9. doi: 10.1016/j.diabres.2011.07.022. Epub 2011 Aug 17. Diabetes Res Clin Pract. 2011. PMID: 21852013

8

High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.

Capalbo D, Fusco A, Aloj G, Improda N, Vitiello L, Dianzani U, Betterle C, Salerno M, Pignata C. Capalbo D, et al. Among authors: pignata c. J Endocrinol Invest. 2012 Jan;35(1):77-81. doi: 10.3275/8055. Epub 2011 Nov 7. J Endocrinol Invest. 2012. PMID: 22071465

9

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.

Capalbo D, Melis D, De Martino L, Palamaro L, Riccomagno S, Bona G, Cordeddu V, Pignata C, Salerno M. Capalbo D, et al. Among authors: pignata c. Am J Med Genet A. 2012 Apr;158A(4):856-60. doi: 10.1002/ajmg.a.35234. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419608

10

A case of galactosemia misdiagnosed as cow's milk intolerance.

Della Casa R, Ungaro C, Acampora E, Pignata C, Vajro P, Salerno M, Santamaria F, Parenti G. Della Casa R, et al. Among authors: pignata c. Ital J Pediatr. 2012 Sep 19;38:47. doi: 10.1186/1824-7288-38-47. Ital J Pediatr. 2012. PMID: 22992216 Free PMC article.

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