Boldrini R - Search Results

1

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Radio FC, Di Meglio L, Agolini E, Bellacchio E, Rinelli M, Toscano P, Boldrini R, Novelli A, Di Meglio A, Dallapiccola B. Radio FC, et al. Among authors: boldrini r. Mol Genet Genomic Med. 2018 May;6(3):446-451. doi: 10.1002/mgg3.376. Epub 2018 Mar 3. Mol Genet Genomic Med. 2018. PMID: 29500860 Free PMC article.

2

A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage.

Callea F, Giovannoni I, Sari S, Aksu AU, Esendagly G, Dalgic B, Boldrini R, Akyol G, Francalanci P, Bellacchio E. Callea F, et al. Among authors: boldrini r. Pathology. 2017 Aug;49(5):534-537. doi: 10.1016/j.pathol.2017.03.007. Epub 2017 Jun 30. Pathology. 2017. PMID: 28673429 No abstract available.

3

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency.

Callea F, Giovannoni I, Francalanci P, Boldrini R, Faa G, Medicina D, Nobili V, Desmet VJ, Ishak K, Seyama K, Bellacchio E. Callea F, et al. Among authors: boldrini r. Orphanet J Rare Dis. 2018 May 16;13(1):79. doi: 10.1186/s13023-018-0821-7. Orphanet J Rare Dis. 2018. PMID: 29769092 Free PMC article.

4

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.

Callea F, Giovannoni I, Sari S, Guldal E, Dalgic B, Akyol G, Sogo T, Al-Hussaini A, Maggiore G, Bartuli A, Boldrini R, Francalanci P, Bellacchio E. Callea F, et al. Among authors: boldrini r. Int J Mol Sci. 2017 Dec 15;18(12):2717. doi: 10.3390/ijms18122717. Int J Mol Sci. 2017. PMID: 29244742 Free PMC article.

5

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Diociaiuti A, Pisaneschi E, Zambruno G, Angioni A, Novelli A, Boldrini R, El Hachem M. Diociaiuti A, et al. Among authors: boldrini r. J Eur Acad Dermatol Venereol. 2018 Mar;32(3):e110-e112. doi: 10.1111/jdv.14618. Epub 2017 Oct 27. J Eur Acad Dermatol Venereol. 2018. PMID: 28983987 No abstract available.

6

Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.

Rossi S, Castiglia D, Pisaneschi E, Diociaiuti A, Stracuzzi A, Cesario C, Mariani R, Floriddia G, Zambruno G, Boldrini R, Abeni D, Novelli A, Alaggio R, El Hachem M. Rossi S, et al. Among authors: boldrini r. J Eur Acad Dermatol Venereol. 2021 Apr;35(4):1007-1016. doi: 10.1111/jdv.17060. Epub 2021 Feb 5. J Eur Acad Dermatol Venereol. 2021. PMID: 33274474

7

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization.

Calabrese G, Mingarelli R, Francalanci P, Boldrini R, Palka G, Bosman C, Novelli G, Dallapiccola B. Calabrese G, et al. Among authors: boldrini r. Hum Genet. 1996 Apr;97(4):414-7. doi: 10.1007/BF02267058. Hum Genet. 1996. PMID: 8834234

8

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.

Diociaiuti A, Rosati E, Paglietti MG, Vacca P, Boldrini R, Pisaneschi E, Castiglia D, Novelli A, El Hachem M. Diociaiuti A, et al. Among authors: boldrini r. Acta Derm Venereol. 2018 Aug 29;98(8):803-804. doi: 10.2340/00015555-2957. Acta Derm Venereol. 2018. PMID: 29701233 Free article. No abstract available.

9

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM. Aiello C, et al. Among authors: boldrini r. Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975. Hum Mutat. 2009. PMID: 19177532

10

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.

Peca D, Petrini S, Tzialla C, Boldrini R, Morini F, Stronati M, Carnielli VP, Cogo PE, Danhaive O. Peca D, et al. Among authors: boldrini r. Respir Res. 2011 Aug 25;12(1):115. doi: 10.1186/1465-9921-12-115. Respir Res. 2011. PMID: 21867529 Free PMC article.

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

290 results

Search Page

Filters