Barrano G - Search Results

1

Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.

Orlando V, Alesi V, Di Giacomo G, Canestrelli M, Calacci C, Nardone AM, Calvieri G, Liambo MT, Sallicandro E, Di Tommaso S, Di Gregorio MG, Corrado F, Barrano G, Niceta M, Dallapiccola B, Novelli A. Orlando V, et al. Among authors: barrano g. Reprod Sci. 2021 Apr;28(4):1142-1149. doi: 10.1007/s43032-020-00419-9. Epub 2021 Jan 6. Reprod Sci. 2021. PMID: 33409881

2

335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.

Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, Serra G. Alesi V, et al. Among authors: barrano g. Gene. 2012 Sep 1;505(2):384-7. doi: 10.1016/j.gene.2012.05.031. Epub 2012 May 24. Gene. 2012. PMID: 22634100

3

A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.

Alesi V, Barrano G, Morara S, Darelli D, Petrilli K, Capalbo A, Pacella M, Haass C, Finocchi M, Novelli A, Bertoli M. Alesi V, et al. Among authors: barrano g. Am J Med Genet A. 2011 Oct;155A(10):2543-51. doi: 10.1002/ajmg.a.34201. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910230

4

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs.

Amodeo S, Vitrano G, Guardino M, Paci G, Corselli F, Antona V, Barrano G, Magliozzi M, Novelli A, Venezia R, Corsello G. Amodeo S, et al. Among authors: barrano g. Ital J Pediatr. 2020 Jul 18;46(1):98. doi: 10.1186/s13052-020-00865-w. Ital J Pediatr. 2020. PMID: 32682435 Free PMC article.

5

Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.

Zampatti S, Mela J, Peconi C, Pagliaroli G, Carboni S, Barrano G, Zito I, Cascella R, Marella G, Milano F, Arcangeli M, Caltagirone C, Novelli A, Giardina E. Zampatti S, et al. Among authors: barrano g. Prenat Diagn. 2018 Dec;38(13):1096-1102. doi: 10.1002/pd.5369. Epub 2018 Nov 20. Prenat Diagn. 2018. PMID: 30303263

6

Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome.

Dell'edera D, Epifania AA, Tinelli A, Leo M, Novelli A, Di Trani A, Barrano G, Bertoli M, Mazzone E, Benedetto M, Simona D, Malvasi A. Dell'edera D, et al. Among authors: barrano g. Mol Med Rep. 2012 Jun;5(6):1521-5. doi: 10.3892/mmr.2012.830. Epub 2012 Mar 8. Mol Med Rep. 2012. PMID: 22407023

7

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Among authors: barrano g. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.

8

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

Ferese R, Zampatti S, Griguoli AM, Fornai F, Giardina E, Barrano G, Albano V, Campopiano R, Scala S, Novelli G, Gambardella S. Ferese R, et al. Among authors: barrano g. J Mol Neurosci. 2016 Jul;59(3):376-81. doi: 10.1007/s12031-016-0754-3. Epub 2016 May 20. J Mol Neurosci. 2016. PMID: 27207492

9

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.

Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, Moretto G, Fiorio M, Dallapiccola B, Smania N, Fiaschi A, Tinazzi M. Gambarin M, et al. Among authors: barrano g. Mov Disord. 2006 Oct;21(10):1782-4. doi: 10.1002/mds.21056. Mov Disord. 2006. PMID: 16874761

10

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group; Valente EM, Gleeson JG. Brancati F, et al. Among authors: barrano g. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18. Am J Hum Genet. 2007. PMID: 17564967 Free PMC article.

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