Mencarelli MA - Search Results

1

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: mencarelli ma. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.

2

Genomic DNA fingerprints and phenotypic characteristics of serotype B Haemophilus influenzae isolates from Italy.

Mencarelli M, Marsili C, Zanchi A, Pantini C, Cellesi C. Mencarelli M, et al. Eur J Epidemiol. 1993 Jul;9(4):353-60. doi: 10.1007/BF00157390. Eur J Epidemiol. 1993. PMID: 7902293

3

Molecular epidemiology of nasopharyngeal corynebacteria in healthy adults from an area where diphtheria vaccination has been extensively practiced.

Mencarelli M, Zanchi A, Cellesi C, Rossolini A, Rappuoli R, Rossolini GM. Mencarelli M, et al. Eur J Epidemiol. 1992 Jul;8(4):560-7. doi: 10.1007/BF00146377. Eur J Epidemiol. 1992. PMID: 1397226

4

[Bacterial meningitis in adults: a retrospective multicentric study in Tuscany (Italy)].

Ricciardi L, Meini M, Luchi S, Scasso A, Corbisiero R, Mencarelli M, Cellesi C, Aquilini D, Carbonai S, Paladini A, Bresci S, Panunzi I, Leoncini F, Trezzi M, Nencioni C, Toti M, Maccanti O, Pardelli R, Sani S, Pippi L, Esperti F, Messeri D, Dionisio D, Pippi F, Ble C, Pienotti P, Mazzotta F. Ricciardi L, et al. Infez Med. 2006 Jun;14(2):77-84. Infez Med. 2006. PMID: 16891852 Free article. Italian.

5

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.

Squillaro T, Cambi F, Ciacci G, Rossi S, Ulivelli M, Malandrini A, Mencarelli MA, Mari F, Renieri A, Ariani F. Squillaro T, et al. Among authors: mencarelli ma. J Hum Genet. 2007;52(3):201-204. doi: 10.1007/s10038-006-0105-2. Epub 2007 Jan 18. J Hum Genet. 2007. PMID: 17235449

6

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F. Mencarelli MA, et al. Am J Med Genet A. 2007 Apr 15;143A(8):858-65. doi: 10.1002/ajmg.a.31602. Am J Med Genet A. 2007. PMID: 17352388

7

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.

Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F. Caselli R, et al. Among authors: mencarelli ma. Am J Med Genet A. 2008 May 1;146A(9):1195-9. doi: 10.1002/ajmg.a.32197. Am J Med Genet A. 2008. PMID: 18348270

8

Private inherited microdeletion/microduplications: implications in clinical practice.

Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Ariani F, Meloni I, Hayek J, Balestri P, Mari F, Renieri A. Mencarelli MA, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):409-16. doi: 10.1016/j.ejmg.2008.06.003. Epub 2008 Jul 9. Eur J Med Genet. 2008. PMID: 18657637

9

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A. Mencarelli MA, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. doi: 10.1016/j.ejmg.2009.03.004. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303466

10

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.

Pollazzon M, Grosso S, Papa FT, Katzaki E, Marozza A, Mencarelli MA, Uliana V, Balestri P, Mari F, Renieri A. Pollazzon M, et al. Among authors: mencarelli ma. Eur J Med Genet. 2009 Mar-Jun;52(2-3):131-3. doi: 10.1016/j.ejmg.2009.03.009. Epub 2009 Mar 24. Eur J Med Genet. 2009. PMID: 19324102

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