Priolo M - Search Results

1

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: priolo m. 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.

2

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. 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

3

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. 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

4

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. 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.

5

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: priolo m. 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

6

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: priolo m. 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.

7

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. 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.

8

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, 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, Kooblall K, Lapunzina P, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker RV, Valdez RM, Van Haeringen A, Van Hagen JM, Zenker M, Zollino M, Dunn WW, Piening S, Hennekam RC. Mulder PA, et al. Among authors: priolo m. J Intellect Disabil Res. 2020 Dec;64(12):956-969. doi: 10.1111/jir.12787. Epub 2020 Oct 9. J Intellect Disabil Res. 2020. PMID: 33034087 Free PMC article.

9

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. Genes (Basel). 2021 Jun 30;12(7):1009. doi: 10.3390/genes12071009. Genes (Basel). 2021. PMID: 34208845 Free PMC article.

10

SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

Priolo M, Palermo V, Aiello F, Ciolfi A, Pannone L, Muto V, Motta M, Mancini C, Radio FC, Niceta M, Leoni C, Pintomalli L, Carrozzo R, Rajola G, Mammì C, Zampino G, Martinelli S, Dallapiccola B, Pichierri P, Tartaglia M. Priolo M, et al. Clin Genet. 2022 Jul;102(1):12-21. doi: 10.1111/cge.14140. Epub 2022 Apr 17. Clin Genet. 2022. PMID: 35396703

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