Miraglia Del Giudice E - 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: miraglia del giudice e. 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

Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A. Miraglia del Giudice E, et al. Eur J Hum Genet. 2000 Dec;8(12):994-7. doi: 10.1038/sj.ejhg.5200570. Eur J Hum Genet. 2000. PMID: 11175290

3

Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associated with an earlier onset of obesity.

Miraglia del Giudice E, Santoro N, Cirillo G, Raimondo P, Grandone A, D'Aniello A, Di Nardo M, Perrone L. Miraglia del Giudice E, et al. Int J Obes Relat Metab Disord. 2004 Mar;28(3):447-50. doi: 10.1038/sj.ijo.0802572. Int J Obes Relat Metab Disord. 2004. PMID: 14724664

4

Insulin gene variable number of tandem repeats (INS VNTR) genotype and metabolic syndrome in childhood obesity.

Santoro N, Cirillo G, Amato A, Luongo C, Raimondo P, D'Aniello A, Perrone L, Miraglia del Giudice E. Santoro N, et al. Among authors: miraglia del giudice e. J Clin Endocrinol Metab. 2006 Nov;91(11):4641-4. doi: 10.1210/jc.2005-2705. Epub 2006 Jul 25. J Clin Endocrinol Metab. 2006. PMID: 16868061

5

Variations of retinol binding protein 4 levels are not associated with changes in insulin resistance during puberty.

Santoro N, Perrone L, Cirillo G, Brienza C, Grandone A, Cresta N, Miraglia del Giudice E. Santoro N, et al. Among authors: miraglia del giudice e. J Endocrinol Invest. 2009 May;32(5):411-4. doi: 10.1007/BF03346477. J Endocrinol Invest. 2009. PMID: 19794289

6

Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity.

Grandone A, Perrone L, Cirillo G, Di Sessa A, Corona AM, Amato A, Cresta N, Romano T, Miraglia del Giudice E. Grandone A, et al. Among authors: miraglia del giudice e. Eur J Endocrinol. 2012 Feb;166(2):255-60. doi: 10.1530/EJE-11-0703. Epub 2011 Nov 14. Eur J Endocrinol. 2012. PMID: 22084153

7

Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration.

Grandone A, Miraglia del Giudice E, Cirillo G, Abbondanza C, Cioffi M, Romano T, Micillo F, Marzuillo P, Perrone L. Grandone A, et al. Among authors: miraglia del giudice e. Horm Res Paediatr. 2014;81(1):67-72. doi: 10.1159/000355017. Epub 2013 Dec 12. Horm Res Paediatr. 2014. PMID: 24356109

8

TM6SF2 E167K variant is associated with severe steatosis in chronic hepatitis C, regardless of PNPLA3 polymorphism.

Coppola N, Rosa Z, Cirillo G, Stanzione M, Macera M, Boemio A, Grandone A, Pisaturo M, Marrone A, Adinolfi LE, Sagnelli E, Miraglia del Giudice E. Coppola N, et al. Among authors: miraglia del giudice e. Liver Int. 2015 Aug;35(8):1959-63. doi: 10.1111/liv.12781. Epub 2015 Jan 27. Liver Int. 2015. PMID: 25581573

9

A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.

Tornese G, Marzuillo P, Pellegrin MC, Germani C, Faleschini E, Zennaro F, Grandone A, Miraglia del Giudice E, Perrone L, Ventura A. Tornese G, et al. Among authors: miraglia del giudice e. Clin Endocrinol (Oxf). 2015 Sep;83(3):437-9. doi: 10.1111/cen.12748. Epub 2015 Mar 6. Clin Endocrinol (Oxf). 2015. PMID: 25683362 No abstract available.

10

TM6SF2 Glu167Lys polymorphism is associated with low levels of LDL-cholesterol and increased liver injury in obese children.

Grandone A, Cozzolino D, Marzuillo P, Cirillo G, Di Sessa A, Ruggiero L, Di Palma MR, Perrone L, Miraglia Del Giudice E. Grandone A, et al. Among authors: miraglia del giudice e. Pediatr Obes. 2016 Apr;11(2):115-9. doi: 10.1111/ijpo.12032. Epub 2015 Apr 20. Pediatr Obes. 2016. PMID: 25893821

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