Zampino G - Search Results

1

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Sadler B, et al. Among authors: zampino g. Am J Hum Genet. 2021 Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001. Epub 2020 Dec 21. Am J Hum Genet. 2021. PMID: 33352116 Free PMC article.

2

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S. Ion A, et al. Among authors: zampino g. Hum Genet. 2002 Oct;111(4-5):421-7. doi: 10.1007/s00439-002-0803-6. Epub 2002 Aug 24. Hum Genet. 2002. PMID: 12384786 Review.

3

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: zampino g. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.

4

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Carta C, et al. Among authors: zampino g. Am J Hum Genet. 2006 Jul;79(1):129-35. doi: 10.1086/504394. Epub 2006 May 1. Am J Hum Genet. 2006. PMID: 16773572 Free PMC article.

5

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

Cesarini L, Alfieri P, Pantaleoni F, Vasta I, Cerutti M, Petrangeli V, Mariotti P, Leoni C, Ricci D, Vicari S, Selicorni A, Tartaglia M, Mercuri E, Zampino G. Cesarini L, et al. Among authors: zampino g. Am J Med Genet A. 2009 Feb;149A(2):140-6. doi: 10.1002/ajmg.a.32488. Am J Med Genet A. 2009. PMID: 19133693

6

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M. Kratz CP, et al. Among authors: zampino g. Am J Med Genet A. 2009 May;149A(5):1036-40. doi: 10.1002/ajmg.a.32786. Am J Med Genet A. 2009. PMID: 19396835

7

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

Leoni C, Cesarini L, Dittoni S, Battaglia D, Novelli A, Bernardini L, Losurdo A, Vollono C, Testani E, Della Marca G, Zampino G. Leoni C, et al. Among authors: zampino g. Am J Med Genet A. 2010 Mar;152A(3):708-12. doi: 10.1002/ajmg.a.32700. Am J Med Genet A. 2010. PMID: 20186811

8

Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.

Alfieri P, Cesarini L, Mallardi M, Piccini G, Caciolo C, Leoni C, Mirante N, Pantaleoni F, Digilio MC, Gambardella ML, Tartaglia M, Vicari S, Mercuri E, Zampino G. Alfieri P, et al. Among authors: zampino g. Behav Genet. 2011 May;41(3):423-9. doi: 10.1007/s10519-011-9446-5. Epub 2011 Jan 28. Behav Genet. 2011. PMID: 21274610

9

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G. Flex E, et al. Among authors: zampino g. J Med Genet. 2013 Aug;50(8):493-9. doi: 10.1136/jmedgenet-2012-101405. Epub 2013 May 17. J Med Genet. 2013. PMID: 23687348 Free PMC article.

10

Decreased bone mineral density in Costello syndrome.

Leoni C, Stevenson DA, Martini L, De Sanctis R, Mascolo G, Pantaleoni F, De Santis S, La Torraca I, Persichilli S, Caradonna P, Tartaglia M, Zampino G. Leoni C, et al. Among authors: zampino g. Mol Genet Metab. 2014 Jan;111(1):41-5. doi: 10.1016/j.ymgme.2013.08.007. Epub 2013 Aug 16. Mol Genet Metab. 2014. PMID: 24246682

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