Bisceglia L - Search Results

1

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Micale L, Cialfi S, Fusco C, Cinque L, Castellana S, Biagini T, Talora C, Notarangelo A, Bisceglia L, Taruscio D, Salvatore M, Castori M. Micale L, et al. Among authors: bisceglia l. Hum Mol Genet. 2020 Nov 4;29(18):3122-3131. doi: 10.1093/hmg/ddaa195. Hum Mol Genet. 2020. PMID: 32959051

2

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L. Melchionda S, et al. Among authors: bisceglia l. J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26. J Hum Genet. 2016. PMID: 27225849

3

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Among authors: bisceglia l. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288

4

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F. Castori M, et al. Among authors: bisceglia l. Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194892

5

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Palumbo P, Palumbo O, Leone MP, di Muro E, Castellana S, Bisceglia L, Mazza T, Carella M, Castori M. Palumbo P, et al. Among authors: bisceglia l. Genes (Basel). 2020 Mar 31;11(4):379. doi: 10.3390/genes11040379. Genes (Basel). 2020. PMID: 32244554 Free PMC article.

6

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Micale L, Russo F, Mascaro M, Morlino S, Nardella G, Fusco C, Bisceglia L, Meroni G, Castori M. Micale L, et al. Among authors: bisceglia l. Pediatr Res. 2023 Apr;93(5):1208-1215. doi: 10.1038/s41390-022-02237-y. Epub 2022 Aug 11. Pediatr Res. 2023. PMID: 35953512 Free article.

7

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

Torraco A, Morlino S, Rizza T, Di Nottia M, Bottaro G, Bisceglia L, Montanari A, Cappa M, Castori M, Bertini E, Carrozzo R. Torraco A, et al. Among authors: bisceglia l. Clin Genet. 2022 Jul;102(1):56-60. doi: 10.1111/cge.14127. Epub 2022 Mar 9. Clin Genet. 2022. PMID: 35246835

8

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: bisceglia l. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.

9

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al. Gasparini P, et al. Among authors: bisceglia l. Am J Hum Genet. 1995 Oct;57(4):781-8. Am J Hum Genet. 1995. PMID: 7573036 Free PMC article.

10

Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.

Bisceglia L, Cerullo G, Forabosco P, Torres DD, Scolari F, Di Perna M, Foramitti M, Amoroso A, Bertok S, Floege J, Mertens PR, Zerres K, Alexopoulos E, Kirmizis D, Ermelinda M, Zelante L, Schena FP; European IgAN Consortium. Bisceglia L, et al. Am J Hum Genet. 2006 Dec;79(6):1130-4. doi: 10.1086/510135. Epub 2006 Nov 3. Am J Hum Genet. 2006. PMID: 17186473 Free PMC article.

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