Zollino M - Search Results

1

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN); Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A. Boonsawat P, et al. Among authors: zollino m. Genet Med. 2019 Sep;21(9):2043-2058. doi: 10.1038/s41436-019-0464-7. Epub 2019 Mar 7. Genet Med. 2019. PMID: 30842647 Free PMC article.

2

New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria.

Zollino M, Mastroiacovo P, Zampino G, Mariotti P, Neri G. Zollino M, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):452-7. doi: 10.1002/ajmg.1320430168. Am J Med Genet. 1992. PMID: 1605225

3

Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.

Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G. Zollino M, et al. Am J Med Genet. 1994 Sep 1;52(3):302-7. doi: 10.1002/ajmg.1320520310. Am J Med Genet. 1994. PMID: 7810561

4

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Kozák L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G. Kozák L, et al. Among authors: zollino m. J Med Genet. 1993 Oct;30(10):866-9. doi: 10.1136/jmg.30.10.866. J Med Genet. 1993. PMID: 8230164 Free PMC article.

5

Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome.

Zollino M, Tiziano F, Di Stefano C, Neri G. Zollino M, et al. Am J Med Genet. 1999 Dec 22;87(5):391-4. doi: 10.1002/(sici)1096-8628(19991222)87:5<391::aid-ajmg4>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10594876

6

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G. Zollino M, et al. Am J Med Genet. 2000 Sep 18;94(3):254-61. doi: 10.1002/1096-8628(20000918)94:3<254::aid-ajmg13>3.0.co;2-7. Am J Med Genet. 2000. PMID: 10995514

7

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

8

Clinical utility gene card for: Mowat-Wilson syndrome.

Zollino M, Garavelli L, Rauch A. Zollino M, et al. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23. Eur J Hum Genet. 2011. PMID: 21343952 Free PMC article. No abstract available.

9

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: zollino m. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391

10

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Zollino M, et al. J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424144

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