Laino L - Search Results

1

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L, Majore S, Preziosi N, Grammatico B, De Bernardo C, Scommegna S, Rapone AM, Marrocco G, Bottillo I, Grammatico P. Laino L, et al. Endocr Connect. 2014 Dec;3(4):180-92. doi: 10.1530/EC-14-0085. Epub 2014 Sep 23. Endocr Connect. 2014. PMID: 25248670 Free PMC article.

2

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Pedace L, Laino L, Preziosi N, Valentini MS, Scommegna S, Rapone AM, Guarino N, Boscherini B, De Bernardo C, Marrocco G, Majore S, Grammatico P. Pedace L, et al. Among authors: laino l. Am J Med Genet A. 2014 Nov;164A(11):2938-46. doi: 10.1002/ajmg.a.36729. Epub 2014 Aug 26. Am J Med Genet A. 2014. PMID: 25160005

3

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

Bottillo I, Castori M, De Bernardo C, Fabbri R, Grammatico B, Preziosi N, Scassellati GS, Silvestri E, Spagnuolo A, Laino L, Grammatico P. Bottillo I, et al. Among authors: laino l. BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376. BMC Res Notes. 2013. PMID: 24053387 Free PMC article.

4

An additional patient with 3q27.3 microdeletion syndrome.

Castori M, Bottillo I, Laino L, Morlino S, Grammatico B, Grammatico P. Castori M, et al. Among authors: laino l. J Child Neurol. 2015 Mar;30(4):500-4. doi: 10.1177/0883073814539557. Epub 2014 Jul 17. J Child Neurol. 2015. PMID: 25038125

5

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P. Pascolini G, et al. Among authors: laino l. Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217. Psychiatr Genet. 2019. PMID: 30724859

6

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.

Castori M, Barboni L, Duncan PJ, Paradisi M, Laino L, De Bernardo C, Robinson DO, Grammatico P. Castori M, et al. Among authors: laino l. Am J Med Genet A. 2009 Aug;149A(8):1768-72. doi: 10.1002/ajmg.a.32960. Am J Med Genet A. 2009. PMID: 19610080

7

Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.

Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Castori M, et al. Among authors: laino l. Eur J Med Genet. 2010 May-Jun;53(3):149-52. doi: 10.1016/j.ejmg.2010.02.005. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219704

8

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Laino L, et al. Eur J Paediatr Neurol. 2016 Nov;20(6):971-976. doi: 10.1016/j.ejpn.2016.07.003. Epub 2016 Jul 11. Eur J Paediatr Neurol. 2016. PMID: 27470653

9

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Pascolini G, Valiante M, Majore S, Cariola F, Laino L, Calvani M, Grammatico P. Pascolini G, et al. Among authors: laino l. Minerva Pediatr. 2018 Dec;70(6):639-642. doi: 10.23736/S0026-4946.18.05011-9. Epub 2018 Apr 12. Minerva Pediatr. 2018. PMID: 29651829 No abstract available.

10

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

Pascolini G, Valiante M, Bottillo I, Laino L, Fleischer N, Ferraris A, Grammatico P. Pascolini G, et al. Among authors: laino l. Eur J Med Genet. 2020 Mar;63(3):103739. doi: 10.1016/j.ejmg.2019.103739. Epub 2019 Aug 14. Eur J Med Genet. 2020. PMID: 31421289

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