Morgan A - Search Results

1

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Di Stazio M, Zanus C, Faletra F, Pesaresi A, Ziccardi I, Morgan A, Girotto G, Costa P, Carrozzi M, d'Adamo AP, Musante L. Di Stazio M, et al. Among authors: morgan a. Genes (Basel). 2023 Jan 18;14(2):250. doi: 10.3390/genes14020250. Genes (Basel). 2023. PMID: 36833176 Free PMC article.

2

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Athanasakis E, et al. Among authors: morgan a. Mol Syndromol. 2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855652 Free PMC article.

3

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

Faletra F, Athanasakis E, Morgan A, Biarnés X, Fornasier F, Parini R, Furlan F, Boiani A, Maiorana A, Dionisi-Vici C, Giordano L, Burlina A, Ventura A, Gasparini P. Faletra F, et al. Among authors: morgan a. Gene. 2013 May 25;521(1):160-5. doi: 10.1016/j.gene.2013.03.021. Epub 2013 Mar 16. Gene. 2013. PMID: 23506826

4

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P. Faletra F, et al. Among authors: morgan a. Gene. 2014 Jan 25;534(2):236-9. doi: 10.1016/j.gene.2013.10.052. Epub 2013 Nov 6. Gene. 2014. PMID: 24211385

5

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Athanasakis E, et al. Among authors: morgan a. Am J Med Genet A. 2014 Jan;164A(1):170-6. doi: 10.1002/ajmg.a.36274. Epub 2013 Dec 4. Am J Med Genet A. 2014. PMID: 24307393

6

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, Badii R, Gasparini P, Girotto G. Vozzi D, et al. Among authors: morgan a. Gene. 2014 Jun 1;542(2):209-16. doi: 10.1016/j.gene.2014.03.033. Epub 2014 Mar 20. Gene. 2014. PMID: 24657061

7

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F. Rubinato E, et al. Among authors: morgan a. Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14. Gene. 2014. PMID: 24835313

8

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D'Eustacchio A, Osland TM, Rossi C, Graziano C, Castorina P, Ambrosetti U, Morgutti M, Girotto G. Lenarduzzi S, et al. Among authors: morgan a. Hear Res. 2015 Feb;320:18-23. doi: 10.1016/j.heares.2014.12.006. Epub 2015 Jan 6. Hear Res. 2015. PMID: 25575603 Free article.

9

The p.Cys169Tyr variant of connexin 26 is not a polymorphism.

Zonta F, Girotto G, Buratto D, Crispino G, Morgan A, Abdulhadi K, Alkowari M, Badii R, Gasparini P, Mammano F. Zonta F, et al. Among authors: morgan a. Hum Mol Genet. 2015 May 1;24(9):2641-8. doi: 10.1093/hmg/ddv026. Epub 2015 Jan 26. Hum Mol Genet. 2015. PMID: 25628337 Free PMC article.

10

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.

Vuckovic D, Dawson S, Scheffer DI, Rantanen T, Morgan A, Di Stazio M, Vozzi D, Nutile T, Concas MP, Biino G, Nolan L, Bahl A, Loukola A, Viljanen A, Davis A, Ciullo M, Corey DP, Pirastu M, Gasparini P, Girotto G. Vuckovic D, et al. Among authors: morgan a. Hum Mol Genet. 2015 Oct 1;24(19):5655-64. doi: 10.1093/hmg/ddv279. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188009 Free PMC article.

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