Alfei E - Search Results

1

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Ciaccio C, Saletti V, D'Arrigo S, Esposito S, Alfei E, Moroni I, Tonduti D, Chiapparini L, Pantaleoni C, Milani D. Ciaccio C, et al. Among authors: alfei e. Eur J Med Genet. 2019 Dec;62(12):103596. doi: 10.1016/j.ejmg.2018.12.001. Epub 2018 Dec 4. Eur J Med Genet. 2019. PMID: 30528446

2

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: alfei e. 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

3

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R. Novara F, et al. Among authors: alfei e. Eur J Med Genet. 2013 Jan;56(1):54-8. doi: 10.1016/j.ejmg.2012.10.002. Epub 2012 Oct 18. Eur J Med Genet. 2013. PMID: 23085304

4

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

Battini R, D'Arrigo S, Cassandrini D, Guzzetta A, Fiorillo C, Pantaleoni C, Romano A, Alfei E, Cioni G, Santorelli FM. Battini R, et al. Among authors: alfei e. J Child Neurol. 2014 Apr;29(4):520-5. doi: 10.1177/0883073812470002. Epub 2013 Jan 9. J Child Neurol. 2014. PMID: 23307886

5

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.

Baranello G, Cesaretti C, Zambonin F, Casalone R, Granata P, Esposito S, Alfei E, Natacci F. Baranello G, et al. Among authors: alfei e. J Child Neurol. 2013 Nov;28(11):1463-1466. doi: 10.1177/0883073813483571. Epub 2013 Apr 22. J Child Neurol. 2013. PMID: 23611886

6

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Città S, Buono S, Greco D, Barone C, Alfei E, Bulgheroni S, Usilla A, Pantaleoni C, Romano C. Città S, et al. Among authors: alfei e. Am J Med Genet A. 2013 Dec;161A(12):3018-22. doi: 10.1002/ajmg.a.36142. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214349

7

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

Alfei E, Raviglione F, Franceschetti S, D'Arrigo S, Milani D, Selicorni A, Riva D, Zuffardi O, Pantaleoni C, Binelli S. Alfei E, et al. Am J Med Genet A. 2014 Dec;164A(12):3154-61. doi: 10.1002/ajmg.a.36746. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257908

8

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

D'Arrigo S, Gavazzi F, Alfei E, Zuffardi O, Montomoli C, Corso B, Buzzi E, Sciacca FL, Bulgheroni S, Riva D, Pantaleoni C. D'Arrigo S, et al. Among authors: alfei e. J Child Neurol. 2016 May;31(6):691-9. doi: 10.1177/0883073815613562. Epub 2015 Oct 28. J Child Neurol. 2016. PMID: 26511719

9

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Natacci F, Alfei E, Tararà L, D'Arrigo S, Zuffardi O, Gentilin B, Pantaleoni C. Natacci F, et al. Among authors: alfei e. Eur J Paediatr Neurol. 2016 Jan;20(1):183-7. doi: 10.1016/j.ejpn.2015.09.010. Epub 2015 Oct 22. Eur J Paediatr Neurol. 2016. PMID: 26565673

10

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome.

Milani D, Cagnoli GA, Baccarin M, Alfei E, Guerneri S, Esposito S. Milani D, et al. Among authors: alfei e. Congenit Anom (Kyoto). 2016 Jul;56(4):187-189. doi: 10.1111/cga.12164. Congenit Anom (Kyoto). 2016. PMID: 27038333

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