Zollino M - Search Results

1

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Cafiero C, et al. Among authors: zollino m. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712080 Free PMC article.

2

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

Kavamura MI, Pomponi MG, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G. Kavamura MI, et al. Among authors: zollino m. Eur J Hum Genet. 2003 Jan;11(1):64-8. doi: 10.1038/sj.ejhg.5200911. Eur J Hum Genet. 2003. PMID: 12529707 Free article.

3

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G. Zollino M, et al. Am J Hum Genet. 2003 Mar;72(3):590-7. doi: 10.1086/367925. Epub 2003 Jan 30. Am J Hum Genet. 2003. PMID: 12563561 Free PMC article.

4

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.

Kavamura MI, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G. Kavamura MI, et al. Among authors: zollino m. Am J Med Genet A. 2003 Jun 1;119A(2):177-9. doi: 10.1002/ajmg.a.10198. Am J Med Genet A. 2003. PMID: 12749059

5

Electroclinical patterns and evolution of epilepsy in the 4p- syndrome.

Battaglia D, Zampino G, Zollino M, Mariotti P, Acquafondata C, Lettori D, Pane M, Vasta I, Neri G, Dravet C, Guzzetta F. Battaglia D, et al. Among authors: zollino m. Epilepsia. 2003 Sep;44(9):1183-90. doi: 10.1046/j.1528-1157.2003.63502.x. Epilepsia. 2003. PMID: 12919390 Free article.

6

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L, Ferrarini A, Rocchi M, Opitz JM, Neri G. Zollino M, et al. Eur J Hum Genet. 2004 Oct;12(10):797-804. doi: 10.1038/sj.ejhg.5201203. Eur J Hum Genet. 2004. PMID: 15241479

7

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.

Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G. Tabolacci E, et al. Among authors: zollino m. Clin Dysmorphol. 2005 Jul;14(3):127-132. Clin Dysmorphol. 2005. PMID: 15930901

8

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

Rodríguez L, Zollino M, Climent S, Mansilla E, López-Grondona F, Martínez-Fernández ML, Murdolo M, Martínez-Frías ML. Rodríguez L, et al. Among authors: zollino m. Am J Med Genet A. 2005 Jul 15;136(2):175-8. doi: 10.1002/ajmg.a.30775. Am J Med Genet A. 2005. PMID: 15948183

9

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12.

Lecce R, Murdolo M, Gelli G, Steindl K, Coppola L, Romano A, Cupelli E, Neri G, Zollino M. Lecce R, et al. Among authors: zollino m. Hum Genet. 2006 Feb;118(6):760-6. doi: 10.1007/s00439-005-0085-x. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323011

10

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Faravelli F, et al. Among authors: zollino m. Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. doi: 10.1002/ajmg.a.31723. Am J Med Genet A. 2007. PMID: 17480006

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