Majore S - Search Results

1

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.

Rinelli M, Bellacchio E, Berardinelli F, Pascolini G, Grammatico P, Sgura A, Iori AP, Quattrocchi L, Novelli A, Majore S, Agolini E. Rinelli M, et al. Among authors: majore s. Ann Hematol. 2019 Mar;98(3):805-807. doi: 10.1007/s00277-018-3415-5. Epub 2018 Jul 6. Ann Hematol. 2019. PMID: 29980875 No abstract available.

2

46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.

Grammatico P, Majore S, Marrocco G, Poscente M, Mordenti C, Grammatico B, Del Porto G. Grammatico P, et al. Among authors: majore s. Genet Couns. 1999;10(4):351-8. Genet Couns. 1999. PMID: 10631922

3

Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia.

Marrocco G, Poscente M, Majore S, De Bernardo C, Rinaldi R, Del Porto G, Storniello G, Grammatico P. Marrocco G, et al. Among authors: majore s. J Pediatr Surg. 2003 Aug;38(8):1258-62. doi: 10.1016/s0022-3468(03)00284-7. J Pediatr Surg. 2003. PMID: 12891509

4

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

Majore S, Binni F, Pennese A, De Santis A, Crisi A, Grammatico P. Majore S, et al. Hum Mutat. 2004 Apr;23(4):400. doi: 10.1002/humu.9232. Hum Mutat. 2004. PMID: 15024747

5

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.

Majore S, Biolcati G, Barboni L, Cannistraci C, Binni F, Crisi A, Picardo M, Grammatico P. Majore S, et al. J Invest Dermatol. 2005 Nov;125(5):933-5. doi: 10.1111/j.0022-202X.2005.23941.x. J Invest Dermatol. 2005. PMID: 16297192 Free article.

6

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.

Majore S, Milano F, Binni F, Stuppia L, Cerrone A, Tafuri A, De Bernardo C, Palka G, Grammatico P. Majore S, et al. Haematologica. 2006 Aug;91(8 Suppl):ECR33. Haematologica. 2006. PMID: 16923517

7

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.

Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P. Tomaselli S, et al. Among authors: majore s. Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665. Hum Mutat. 2008. PMID: 18085567

8

Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female.

Castori M, Majore S, Romanelli F, Didona B, Grammatico P, Zambruno G. Castori M, et al. Among authors: majore s. Eur J Dermatol. 2008 Jan-Feb;18(1):22-5. doi: 10.1684/ejd.2008.0305. Epub 2007 Dec 18. Eur J Dermatol. 2008. PMID: 18086584

9

Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.

Pedace L, Majore S, Megiorni F, Binni F, De Bernardo C, Antigoni I, Preziosi N, Mazzilli MC, Grammatico P. Pedace L, et al. Among authors: majore s. Cancer Genet Cytogenet. 2008 Apr 15;182(2):130-5. doi: 10.1016/j.cancergencyto.2008.01.009. Cancer Genet Cytogenet. 2008. PMID: 18406876

10

Do patients with hypospadias and cryptorchidism share a common phenotype? Case-control study of an Italian paediatric population.

Marrocco G, Bruner E, Vallasciani S, Majore S, Grammatico P. Marrocco G, et al. Among authors: majore s. J Pediatr Urol. 2007 Dec;3(6):477-9. doi: 10.1016/j.jpurol.2007.05.001. Epub 2007 Jun 27. J Pediatr Urol. 2007. PMID: 18947798

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