Niceta M - Search Results

1

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: niceta m. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.

2

A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B.

Niceta M, Fabiano C, Sammarco P, Gagliano F, Mancuso G. Niceta M, et al. Intern Emerg Med. 2006;1(4):318-20. doi: 10.1007/BF02934771. Intern Emerg Med. 2006. PMID: 17217158 No abstract available.

3

Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia.

Rigano P, Fabiano C, Pojero F, Niceta M, Pecoraro A, Maggio A, Sammarco P. Rigano P, et al. Among authors: niceta m. Br J Haematol. 2010 Apr;149(2):296-7. doi: 10.1111/j.1365-2141.2009.08044.x. Epub 2010 Jan 18. Br J Haematol. 2010. PMID: 20085579 Free article. No abstract available.

4

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

Piccione M, Antona V, Niceta M, Fabiano C, Martines M, Bianchi A, Corsello G. Piccione M, et al. Among authors: niceta m. Eur J Pediatr. 2009 Sep;168(9):1135-9. doi: 10.1007/s00431-008-0884-x. Epub 2008 Dec 6. Eur J Pediatr. 2009. PMID: 19066959

5

Evaluation of serum CA 125 levels in patients with pelvic pain related to endometriosis.

Maiorana A, Cicerone C, Niceta M, Alio L. Maiorana A, et al. Among authors: niceta m. Int J Biol Markers. 2007 Jul-Sep;22(3):200-2. doi: 10.1177/172460080702200306. Int J Biol Markers. 2007. PMID: 17922463 Free article.

6

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.

Guarnotta V, Niceta M, Bono M, Marchese S, Fabiano C, Indelicato S, Di Gaudio F, Garofalo P, Giordano C. Guarnotta V, et al. Among authors: niceta m. J Steroid Biochem Mol Biol. 2020 Apr;198:105554. doi: 10.1016/j.jsbmb.2019.105554. Epub 2019 Dec 2. J Steroid Biochem Mol Biol. 2020. PMID: 31805392

7

Epidemiological study of nonsyndromic hearing loss in Sicilian newborns.

Niceta M, Fabiano C, Sammarco P, Piccione M, Antona V, Giuffrè M, Corsello G. Niceta M, et al. Am J Med Genet A. 2007 Jul 15;143A(14):1666-70. doi: 10.1002/ajmg.a.31836. Am J Med Genet A. 2007. PMID: 17568408 No abstract available.

8

Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.

Caputo V, Fiorella S, Curiale S, Caputo A, Niceta M. Caputo V, et al. Among authors: niceta m. Dermatology. 2010;220(2):121-7. doi: 10.1159/000277608. Epub 2010 Jan 29. Dermatology. 2010. PMID: 20110635

9

Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.

Orlando V, Alesi V, Di Giacomo G, Canestrelli M, Calacci C, Nardone AM, Calvieri G, Liambo MT, Sallicandro E, Di Tommaso S, Di Gregorio MG, Corrado F, Barrano G, Niceta M, Dallapiccola B, Novelli A. Orlando V, et al. Among authors: niceta m. Reprod Sci. 2021 Apr;28(4):1142-1149. doi: 10.1007/s43032-020-00419-9. Epub 2021 Jan 6. Reprod Sci. 2021. PMID: 33409881

10

MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis.

Pasta L, Marrone C, D'Amico M, Verdone R, Rizzo A, Sammarco P, Fabiano C, Niceta M, Caltagirone M, D'Amico G, Pagliaro L. Pasta L, et al. Among authors: niceta m. Clin Transplant. 2006 Nov-Dec;20(6):796-8. doi: 10.1111/j.1399-0012.2006.00564.x. Clin Transplant. 2006. PMID: 17100732 No abstract available.

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