Mencarelli A - Search Results

1

Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, Guercini G, Mencarelli A, Donti E. Prontera P, et al. Among authors: mencarelli a. Mol Syndromol. 2013 Apr;4(4):197-202. doi: 10.1159/000350040. Epub 2013 Apr 11. Mol Syndromol. 2013. PMID: 23801936 Free PMC article.

2

Mapping of chromosome 17 breakpoints in acute myeloid leukemias.

Longo L, Donti E, Mencarelli A, Avanzi G, Pegoraro L, Alimena G, Tabilio A, Venti G, Grignani F, Pelicci PG. Longo L, et al. Among authors: mencarelli a. Oncogene. 1990 Oct;5(10):1557-63. Oncogene. 1990. PMID: 1701231

3

Results of T-depleted BMT in chronic myelogenous leukaemia after a conditioning regimen that included thiotepa.

Aversa F, Pelicci PG, Terenzi A, Carotti A, Felicini R, Mencarelli A, Donti E, Latini P, Aristei C, Martelli MF. Aversa F, et al. Among authors: mencarelli a. Bone Marrow Transplant. 1991;7 Suppl 2:24. Bone Marrow Transplant. 1991. PMID: 1908727 No abstract available.

4

Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).

Prontera P, Stangoni G, Manes I, Mencarelli A, Donti E. Prontera P, et al. Among authors: mencarelli a. Am J Med Genet A. 2009 Mar;149A(3):543-5. doi: 10.1002/ajmg.a.32692. Am J Med Genet A. 2009. PMID: 19215040 No abstract available.

5

A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.

Prontera P, Ferrando B, Giuliani V, Falcinelli F, Mencarelli A, Rogaia D, Pasini B, Donti E. Prontera P, et al. Among authors: mencarelli a. Genet Couns. 2008;19(4):413-8. Genet Couns. 2008. PMID: 19239085

6

Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q).

Prontera P, Buldrini B, Aiello V, Rogaia D, Mencarelli A, Gruppioni R, Bonfatti A, Beltrami N, Donti E, Sensi A. Prontera P, et al. Among authors: mencarelli a. Genet Couns. 2010;21(1):91-7. Genet Couns. 2010. PMID: 20420035

7

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.

Cavani S, Prontera P, Grasso M, Ardisia C, Malacarne M, Gradassi C, Cecconi M, Mencarelli A, Donti E, Pierluigi M. Cavani S, et al. Among authors: mencarelli a. Am J Med Genet A. 2011 Jan;155A(1):221-4. doi: 10.1002/ajmg.a.33515. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204236 No abstract available.

8

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Prontera P, Stangoni G, Ardisia C, Rogaia D, Mencarelli A, Donti E. Prontera P, et al. Among authors: mencarelli a. Am J Med Genet A. 2011 Apr;155A(4):928-30. doi: 10.1002/ajmg.a.33817. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416586 No abstract available.

9

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E. Prontera P, et al. Among authors: mencarelli a. Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990121

10

A novel MED12 mutation: Evidence for a fourth phenotype.

Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: mencarelli a. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.

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