Graziano C - Search Results

1

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.

Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Lopatkina ME, Salyukova OA, Chechetkina NN, Vorotelyak EA, Kalabusheva EP, Fishman VS, Kzhyshkowska J, Graziano C, Magini P, Romeo G, Lebedev IN. Kashevarova AA, et al. Among authors: graziano c. Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244536

2

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Spedicati B, Santin A, Nardone GG, Rubinato E, Lenarduzzi S, Graziano C, Garavelli L, Miccoli S, Bigoni S, Morgan A, Girotto G. Spedicati B, et al. Among authors: graziano c. Biomedicines. 2023 Feb 24;11(3):703. doi: 10.3390/biomedicines11030703. Biomedicines. 2023. PMID: 36979683 Free PMC article.

3

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

Turchetti D, Razzaboni E, Zomer H, Rossi C, Ferrari S, Greco D, Graziano C, Romeo G, Seri M. Turchetti D, et al. Among authors: graziano c. Prenat Diagn. 2006 Dec;26(12):1156-9. doi: 10.1002/pd.1577. Prenat Diagn. 2006. PMID: 17009341

4

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M. Graziano C, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808. Am J Med Genet A. 2007. PMID: 17595013 No abstract available.

5

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

Graziano C, Carone S, Panza E, Marino F, Magini P, Romeo G, Pession A, Seri M. Graziano C, et al. Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24. Blood. 2009. PMID: 19553636 Free article.

6

Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.

Pradella LM, Zuntini R, Magini P, Ceccarelli C, Neri I, Cerasoli S, Graziano C, Gasparre G, Turchetti D. Pradella LM, et al. Among authors: graziano c. J Med Genet. 2011 Nov;48(11):779-82. doi: 10.1136/jmedgenet-2011-100152. Epub 2011 Sep 16. J Med Genet. 2011. PMID: 21926107

7

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum.

Graziano C, David M, Magini P, Superti-Furga A, Seri M. Graziano C, et al. Am J Med Genet A. 2012 Dec;158A(12):3211-3. doi: 10.1002/ajmg.a.35656. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165915 No abstract available.

8

[Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization].

Kashevarova AA, Skryabin NA, Cheremnykh AD, Tolmacheva EN, Sazhenova EA, Salyukova OA, Chechetkina NN, Didenko LI, Sukhanova NN, Yakovleva YS, Torkhova NB, Nazarenko LP, Magini P, Graziano C, Romeo G, Lebedev IN. Kashevarova AA, et al. Among authors: graziano c. Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(9):70-4. Zh Nevrol Psikhiatr Im S S Korsakova. 2013. PMID: 24107884 Russian.

9

Array CGH analysis of a cohort of Russian patients with intellectual disability.

Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN. Kashevarova AA, et al. Among authors: graziano c. Gene. 2014 Feb 15;536(1):145-50. doi: 10.1016/j.gene.2013.11.029. Epub 2013 Nov 27. Gene. 2014. PMID: 24291026

10

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli MA, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C. Mucciolo M, et al. Among authors: graziano c. Am J Med Genet A. 2014 Mar;164A(3):685-90. doi: 10.1002/ajmg.a.36361. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24376033

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