Mammì C - Search Results

1

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Priolo M, Zara E, Radio FC, Ciolfi A, Spadaro F, Bellacchio E, Mancini C, Pantaleoni F, Cordeddu V, Chiriatti L, Niceta M, Africa E, Mammì C, Melis D, Coppola S, Tartaglia M. Priolo M, et al. Among authors: mammi c. Eur J Hum Genet. 2023 Jul;31(7):805-814. doi: 10.1038/s41431-023-01351-7. Epub 2023 Apr 14. Eur J Hum Genet. 2023. PMID: 37059841 Free PMC article. Review.

2

Prevalence of prothrombotic polymorphisms in a selected cohort of cryptogenic and noncryptogenic ischemic stroke patients.

Calabrò RS, La Spina P, Serra S, Laganà A, Postorino P, Savica R, Mammì C, Laganà C, Musolino R. Calabrò RS, et al. Among authors: mammi c. Neurol India. 2009 Sep-Oct;57(5):636-7. doi: 10.4103/0028-3886.57819. Neurol India. 2009. PMID: 19934566 Free article.

3

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment.

Priolo M, Sparago A, Mammì C, Cerrato F, Laganà C, Riccio A. Priolo M, et al. Among authors: mammi c. Eur J Hum Genet. 2008 May;16(5):565-71. doi: 10.1038/sj.ejhg.5202001. Epub 2008 Jan 23. Eur J Hum Genet. 2008. PMID: 18212817

4

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G. Priolo M, et al. Among authors: mammi c. Mol Genet Metab. 2012 Nov;107(3):627-9. doi: 10.1016/j.ymgme.2012.06.019. Epub 2012 Jul 6. Mol Genet Metab. 2012. PMID: 22840376

5

A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.

Priolo M, Grosso E, Mammì C, Labate C, Naretto VG, Vacalebre C, Caridi P, Laganà C. Priolo M, et al. Among authors: mammi c. Gene. 2012 Dec 10;511(1):103-5. doi: 10.1016/j.gene.2012.08.040. Epub 2012 Sep 13. Gene. 2012. PMID: 22982744 Review.

6

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

Gurrieri F, Cavaliere ML, Wischmeijer A, Mammì C, Neri G, Pisanti MA, Rodella G, Laganà C, Priolo M. Gurrieri F, et al. Among authors: mammi c. Eur J Med Genet. 2015 Sep;58(9):488-91. doi: 10.1016/j.ejmg.2015.06.009. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193383

7

Genetic risk of prediabetes and diabetes development in chronic myeloid leukemia patients treated with nilotinib.

Martino B, Mammì C, Labate C, Rodi S, Ielo D, Priolo M, Postorino M, Tripepi G, Ronco F, Laganà C, Musolino C, Greco M, La Nasa G, Caocci G. Martino B, et al. Among authors: mammi c. Exp Hematol. 2017 Nov;55:71-75. doi: 10.1016/j.exphem.2017.07.007. Epub 2017 Jul 28. Exp Hematol. 2017. PMID: 28757432 Free article.

8

Further delineation of Malan syndrome.

Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: mammi c. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.

9

Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation.

Salzano G, Passanisi S, Mammì C, Priolo M, Pintomalli L, Caminiti L, Messina MF, Pajno GB, Lombardo F. Salzano G, et al. Among authors: mammi c. Diabetes Ther. 2019 Aug;10(4):1543-1548. doi: 10.1007/s13300-019-0633-3. Epub 2019 May 16. Diabetes Ther. 2019. PMID: 31098941 Free PMC article.

10

Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype.

Priolo M, Radio FC, Pizzi S, Pintomalli L, Pantaleoni F, Mancini C, Cordeddu V, Africa E, Mammì C, Dallapiccola B, Tartaglia M. Priolo M, et al. Among authors: mammi c. Genes (Basel). 2021 Jun 30;12(7):1009. doi: 10.3390/genes12071009. Genes (Basel). 2021. PMID: 34208845 Free PMC article.

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