Pubblicazioni scientifiche indicizzate in PubMed: dalla 21 alla 40


Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Zappella M, Mari F, Renieri A.

Eur J Pediatr. 2005 Nov;164(11):710; author reply 711-2. Epub 2005 Jul 12. No abstract available.PMID: 16010564 [PubMed - indexed for MEDLINE]Related citations


CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.PMID: 15917271 [PubMed - indexed for MEDLINE]Free ArticleRelated citations


Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V.

Am J Med Genet A. 2005 May 15;135(1):99-102.PMID: 15809997 [PubMed - indexed for MEDLINE]Related citations


Epilepsy, electroencephalographic abnormalities, and regression in children with autism.

Canitano R, Luchetti A, Zappella M.

J Child Neurol. 2005 Jan;20(1):27-31.PMID: 15791919 [PubMed - indexed for MEDLINE]Related citations


Germline mosaicism in Rett syndrome identified by prenatal diagnosis.

Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A.

Clin Genet. 2005 Mar;67(3):258-60.PMID: 15691364 [PubMed - indexed for MEDLINE]Related citations


CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.

Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.

J Med Genet. 2005 Feb;42(2):103-7.PMID: 15689447 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations


Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis.

Battisti C, Formichi P, Tripodi SA, Meloni I, Mangiavacchi P, Zappella M, Federico A.

Brain Dev. 2004 Sep;26(6):384-8.PMID: 15275701 [PubMed - indexed for MEDLINE]Related citations


Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A.

Hum Mutat. 2004 Aug;24(2):172-7.PMID: 15241799 [PubMed - indexed for MEDLINE]Related citations


Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Longo I, Russo L, Meloni I, Ricci I, Ariani F, Pescucci C, Giordano CT, Canitano R, Hayek G, Zappella M, Neri G, Renieri A, Gurrieri F.

Eur J Hum Genet. 2004 Aug;12(8):682-5.PMID: 15069458 [PubMed - indexed for MEDLINE]Free ArticleRelated citations


Cardiac dysautonomia and serotonin plasma levels in Rett syndrome.

Guideri F, Acampa M, Blardi P, de Lalla A, Zappella M, Hayek Y.

Neuropediatrics. 2004 Feb;35(1):36-8.PMID: 15002050 [PubMed - indexed for MEDLINE]Related citations


Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A.

Clin Genet. 2003 Dec;64(6):497-501.PMID: 14986829 [PubMed - indexed for MEDLINE]Related citations


Nerve growth factor plasma levels and ventricular repolarization in Rett syndrome.

Guideri F, Acampa M, Calamandrei G, Aloe L, Zappella M, Hayek Y.

Pediatr Cardiol. 2004 Jul-Aug;25(4):394-6.PMID: 14708067 [PubMed - indexed for MEDLINE]Related citations


Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.

Zannolli R, Micheli V, Mazzei MA, Sacco P, Piomboni P, Bruni E, Miracco C, de Santi MM, Terrosi Vagnoli P, Volterrani L, Pellegrini L, Livi W, Lucani B, Gonnelli S, Burlina AB, Jacomelli G, Macucci F, Pucci L, Fimiani M, Swift JA, Zappella M, Morgese G.

J Med Genet. 2003 Nov;40(11):e121. No abstract available.PMID: 14627688 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations


Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7.PMID: 12707946 [PubMed - indexed for MEDLINE]Related citations


18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

Zannolli R, Pierluigi M, Pucci L, Lagrasta N, Gasparre O, Matera MR, Di Bartolo RM, Mazzei MA, Sacco P, Miracco C, de Santi MM, Aitiani P, Cavani S, Pellegrini L, Fimiani M, Alessandrini C, Galluzzi P, Livi W, Gonnelli S, Terrosi-Vagnoli P, Zappella M, Morgese G.

Am J Med Genet A. 2003 Jan 15;116A(2):192-9.PMID: 12494443 [PubMed - indexed for MEDLINE]Related citations


Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy.

Orrico A, Galli L, Zappella M, Monti L, Vatti GP, Venturi C, Hayek G.

Eur J Neurol. 2002 Nov;9(6):679-82.PMID: 12453085 [PubMed - indexed for MEDLINE]Related citations


Developmental profile of serum nerve growth factor levels in Rett complex.

Calamandrei G, Aloe L, Hajek J, Zappella M.

Ann Ist Super Sanita. 2001;37(4):601-5.PMID: 12046231 [PubMed - indexed for MEDLINE]Related citations


Early-onset Tourette syndrome with reversible autistic behaviour: a dysmaturational disorder.

Zappella M.

Eur Child Adolesc Psychiatry. 2002 Feb;11(1):18-23.PMID: 11942423 [PubMed - indexed for MEDLINE]Related citations


Analysis of ten candidate genes in autism by association and linkage.

Philippe A, Guilloud-Bataille M, Martinez M, Gillberg C, Råstam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Penet C, Feingold J, Brice A, Leboyer M; Paris Autism Research International Sibpair Study.

Am J Med Genet. 2002 Mar 8;114(2):125-8.PMID: 11857571 [PubMed - indexed for MEDLINE]Related citations


Dual X-ray absorptiometry and bone ultrasonography in patients with Rett syndrome.

Cepollaro C, Gonnelli S, Bruni D, Pacini S, Martini S, Franci MB, Gennari L, Rossi S, Hayek G, Zappella M, Gennari C.

Calcif Tissue Int. 2001 Nov;69(5):259-62.PMID: 11768194 [PubMed - indexed for MEDLINE]Related citations