Rossi E - Search Results

1

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: rossi e. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279

2

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Concolino D, Rossi E, Strisciuglio P, Iembo MA, Giorda R, Ciccone R, Tenconi R, Zuffardi O. Concolino D, et al. Among authors: rossi e. J Med Genet. 2007 Oct;44(10):647-50. doi: 10.1136/jmg.2007.050963. J Med Genet. 2007. PMID: 17911656 Free PMC article.

3

Reciprocal translocations: a trap for cytogenetists?

Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Ciccone R, et al. Among authors: rossi e. Hum Genet. 2005 Oct;117(6):571-82. doi: 10.1007/s00439-005-1324-x. Epub 2005 Jul 23. Hum Genet. 2005. PMID: 16041583

4

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.

Borghesi A, Plumari M, Rossi E, Viganò C, Cerbo RM, Codazzi AC, Valente EM, Gana S. Borghesi A, et al. Among authors: rossi e. Am J Med Genet A. 2022 Feb;188(2):635-641. doi: 10.1002/ajmg.a.62547. Epub 2021 Oct 29. Am J Med Genet A. 2022. PMID: 34713961

5

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R. Novara F, et al. Among authors: rossi e. Am J Med Genet A. 2014 Aug;164A(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12. Am J Med Genet A. 2014. PMID: 24819041

6

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.

Ye M, Xu L, Fu M, Chen D, Mattina T, Zufardi O, Rossi E, Bush KT, Nigam SK, Grossfeld P. Ye M, et al. Among authors: rossi e. Am J Med Genet A. 2019 Jan;179(1):71-77. doi: 10.1002/ajmg.a.40481. Epub 2018 Nov 13. Am J Med Genet A. 2019. PMID: 30422383

7

Mosaic Williams syndrome: A case report.

Kalantari S, Biagio MD, Valente EM, Rossi E, Sirchia F. Kalantari S, et al. Among authors: rossi e. Am J Med Genet A. 2023 Jan;191(1):249-252. doi: 10.1002/ajmg.a.63002. Epub 2022 Oct 20. Am J Med Genet A. 2023. PMID: 36263864

8

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

Rossi E, de Gregori M, Grazia Patricelli M, Pramparo T, Argentiero L, Giglio S, Sosta K, Foresti G, Zuffardi O. Rossi E, et al. Am J Med Genet A. 2005 Mar 1;133A(2):189-92. doi: 10.1002/ajmg.a.30519. Am J Med Genet A. 2005. PMID: 15669096

9

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O. Gana S, et al. Among authors: rossi e. Eur J Hum Genet. 2012 Aug;20(8):852-6. doi: 10.1038/ejhg.2012.19. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378287 Free PMC article.

10

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Gana S, Plumari M, Rossi E, Saracino A, Iorio M, Zanaboni MP, Orcesi S, Valente EM. Gana S, et al. Among authors: rossi e. Am J Med Genet A. 2020 Nov;182(11):2722-2726. doi: 10.1002/ajmg.a.61832. Epub 2020 Sep 5. Am J Med Genet A. 2020. PMID: 32888391

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,991 results

Search Page

Filters