Caligo MA - Search Results

1

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.

Montano V, Mancuso M, Simoncini C, Torri F, Chico L, Ali G, Rocchi A, Baldinotti F, Caligo MA, Lattanzi G, Mattioli E, Cenacchi G, Barison A, Siciliano G, Ricci G. Montano V, et al. Among authors: caligo ma. J Neuromuscul Dis. 2022;9(3):457-462. doi: 10.3233/JND-220802. J Neuromuscul Dis. 2022. PMID: 35466949

2

Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?

Brancatella A, Cappellani D, Kaufmann M, Borsari S, Piaggi P, Baldinotti F, Caligo MA, Jones G, Marcocci C, Cetani F. Brancatella A, et al. Among authors: caligo ma. J Clin Endocrinol Metab. 2021 Mar 8;106(3):708-717. doi: 10.1210/clinem/dgaa876. J Clin Endocrinol Metab. 2021. PMID: 33249478

3

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.

Bertelloni S, Tyutyusheva N, Valiani M, D'Alberton F, Baldinotti F, Caligo MA, Baroncelli GI, Peroni DG. Bertelloni S, et al. Among authors: caligo ma. Front Pediatr. 2021 Apr 22;9:627281. doi: 10.3389/fped.2021.627281. eCollection 2021. Front Pediatr. 2021. PMID: 33968844 Free PMC article. Review.

4

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.

Cappellani D, Brancatella A, Morganti R, Borsari S, Baldinotti F, Caligo MA, Kaufmann M, Jones G, Marcocci C, Cetani F. Cappellani D, et al. Among authors: caligo ma. Eur J Endocrinol. 2021 Dec 10;186(2):137-149. doi: 10.1530/EJE-21-0713. Eur J Endocrinol. 2021. PMID: 34735369

5

Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.

Brancatella A, Cappellani D, Kaufmann M, Semeraro A, Borsari S, Sardella C, Baldinotti F, Caligo MA, Jones G, Marcocci C, Cetani F. Brancatella A, et al. Among authors: caligo ma. J Clin Endocrinol Metab. 2022 Jul 14;107(8):e3159-e3166. doi: 10.1210/clinem/dgac315. J Clin Endocrinol Metab. 2022. PMID: 35569070

6

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development.

Bertini V, Baldinotti F, Parma P, Tyutyusheva N, Sepich M, Bertolucci G, Rosano C, Caligo MA, Peroni D, Valetto A, Bertelloni S. Bertini V, et al. Among authors: caligo ma. Genes (Basel). 2023 Nov 12;14(11):2067. doi: 10.3390/genes14112067. Genes (Basel). 2023. PMID: 38003010 Free PMC article.

7

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.

Aretini P, Mazzanti CM, La Ferla M, Franceschi S, Lessi F, De Gregorio V, Nesti C, Valetto A, Bertini V, Toschi B, Battini R, Caligo MA. Aretini P, et al. Among authors: caligo ma. BMC Neurol. 2018 Jul 20;18(1):99. doi: 10.1186/s12883-018-1103-7. BMC Neurol. 2018. PMID: 30029642 Free PMC article.

8

Whole exome sequencing in familial isolated primary hyperparathyroidism.

Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregossa L, Oppo A, Marcocci C. Cetani F, et al. Among authors: caligo ma. J Endocrinol Invest. 2020 Feb;43(2):231-245. doi: 10.1007/s40618-019-01107-5. Epub 2019 Sep 5. J Endocrinol Invest. 2020. PMID: 31486992

9

Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism.

Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregrossa L, Oppo A, Marcocci C. Cetani F, et al. Among authors: caligo ma. J Endocrinol Invest. 2020 Mar;43(3):399. doi: 10.1007/s40618-019-01118-2. J Endocrinol Invest. 2020. PMID: 31559585

10

Lung Function Longitudinal Study by Phenotype and Genotype in Primary Ciliary Dyskinesia.

Pifferi M, Bush A, Mariani F, Piras M, Michelucci A, Cangiotti A, Di Cicco M, Caligo MA, Miccoli M, Boner AL, Peroni D. Pifferi M, et al. Among authors: caligo ma. Chest. 2020 Jul;158(1):117-120. doi: 10.1016/j.chest.2020.02.001. Epub 2020 Feb 12. Chest. 2020. PMID: 32059959 No abstract available.

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