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Items: 13

1.

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

Boaretto F, Snijders D, Salvoro C, Spalletta A, Mostacciuolo ML, Collura M, Cazzato S, Girosi D, Silvestri M, Rossi GA, Barbato A, Vazza G.

J Mol Diagn. 2016 Nov;18(6):912-922. doi: 10.1016/j.jmoldx.2016.07.002. Epub 2016 Sep 13.

2.

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.

Boaretto F, Cacciavillani M, Mostacciuolo ML, Spalletta A, Piscosquito G, Pareyson D, Vazza G, Briani C.

Muscle Nerve. 2015 Oct;52(4):688-9. doi: 10.1002/mus.24720. Epub 2015 Jul 27. No abstract available.

PMID:
26059562
3.

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

Fichera M, Barone R, Grillo L, De Grandi M, Fiore V, Morana I, Maniscalchi T, Vinci M, Amata S, Spalletta A, Sorge G, Signorelli SS.

Mol Cytogenet. 2014 Dec 19;7(1):90. doi: 10.1186/s13039-014-0090-7. eCollection 2014.

4.

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

Di Benedetto D, Musumeci SA, Avola E, Alberti A, Buono S, Scuderi C, Grillo L, Galesi O, Spalletta A, Giudice ML, Luciano D, Vinci M, Bianca S, Romano C, Fichera M.

Am J Med Genet A. 2014 Aug;164A(8):1923-30. doi: 10.1002/ajmg.a.36570. Epub 2014 Apr 14.

PMID:
24733578
5.

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.

Grillo L, Greco D, Pettinato R, Avola E, Potenza N, Castiglia L, Spalletta A, Amata S, Di Benedetto D, Luciano D, Romano C, Fichera M.

Gene. 2014 Jan 25;534(2):435-9. doi: 10.1016/j.gene.2013.09.120. Epub 2013 Oct 8.

PMID:
24120895
6.

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.

Grillo L, Reitano S, Belfiore G, Spalletta A, Amata S, Bottitta M, Barone C, Falco M, Fichera M, Romano C.

Eur J Med Genet. 2010 Mar-Apr;53(2):113-6. doi: 10.1016/j.ejmg.2010.01.001. Epub 2010 Jan 21.

PMID:
20096387
7.

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.

Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88.

PMID:
18809835
8.

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.

Clin Genet. 2007 Feb;71(2):177-82.

PMID:
17250668
9.

Denaturing HPLC-based assay for detection of ATRX gene mutations.

Falco M, Luciano D, Sturnio M, Spalletta A, Scionti D, Lo Giudice M, Romano C, Fichera M.

Clin Chem. 2005 Jul;51(7):1314-5. No abstract available.

PMID:
15976132
10.

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

Fichera M, Falco M, Lo Giudice M, Castiglia L, Guarnaccia V, Calì F, Spalletta A, Scuderi C, Avola E.

Clin Genet. 2005 May;67(5):446-7. No abstract available.

PMID:
15811016
11.

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Borgione E, Sturnio M, Spalletta A, Angela Lo Giudice M, Castiglia L, Galesi O, Ragusa A, Fichera M.

Hum Mutat. 2003 May;21(5):529-34.

PMID:
12673795
12.

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.

Fichera M, Silengo M, Spalletta A, Giudice ML, Romano C, Ragusa A.

Prenat Diagn. 2001 Sep;21(9):747-51.

PMID:
11559911
13.

Molecular basis of alpha-thalassemia in Sicily.

Fichera M, Spalletta A, Fiorenza F, Lombardo T, Schilirò G, Tamouza R, Lapouméroulie C, Labie D, Ragusa A.

Hum Genet. 1997 Mar;99(3):381-6.

PMID:
9050927

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