PubMed

Erratum to: Atlante elementare delle deformità congenite dello scheletro.

Canepa G, Renieri A.

Radiol Med. 2009 Nov 19. [Epub ahead of print] No abstract available. PMID: 19924510 [PubMed - as supplied by publisher]Related articles

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B.

J Neurol. 2009 Nov 13. [Epub ahead of print]PMID: 19911250 [PubMed - as supplied by publisher]Related articles

Is HSD17B1 a new sex reversal gene in human?

Katzaki E, Papa FT, Mucciolo M, Uliana V, Renieri A.

Mol Cell Endocrinol. 2009 Dec 10;313(1-2):70; author reply 71. Epub 2009 Jul 28. No abstract available. PMID: 19643167 [PubMed - in process]Related articles

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli M, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.

J Med Genet. 2009 Jul 2. [Epub ahead of print]PMID: 19578037 [PubMed - as supplied by publisher]Related articles

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE.

Hum Mutat. 2009 Sep;30(9):E866-79.PMID: 19562714 [PubMed - indexed for MEDLINE]Related articles

Leukoencephalopathy in 21-beta hydroxylase deficiency: Report of a family.

Gaudiano C, Malandrini A, Pollazzon M, Murru S, Mari F, Renieri A, Federico A.

Brain Dev. 2009 May 6. [Epub ahead of print]PMID: 19427150 [PubMed - as supplied by publisher]Related articles

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria.

Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Bernardina BD, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A.

Brain Dev. 2009 Apr 9. [Epub ahead of print]PMID: 19362436 [PubMed - as supplied by publisher]Related articles

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.

Pollazzon M, Grosso S, Papa FT, Katzaki E, Marozza A, Mencarelli MA, Uliana V, Balestri P, Mari F, Renieri A.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):131-3. Epub 2009 Mar 24.PMID: 19324102 [PubMed - indexed for MEDLINE]Related articles

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19.PMID: 19303466 [PubMed - indexed for MEDLINE]Related articles

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.

Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A.

Eur J Hum Genet. 2009 Sep;17(9):1141-7. Epub 2009 Mar 11.PMID: 19277063 [PubMed - in process]Related articles

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.

Am J Med Genet A. 2009 Mar;149A(3):417-26. Review.PMID: 19215041 [PubMed - indexed for MEDLINE]Related articles

Array comparative genomic hybridization in retinoma and retinoblastoma tissues.

Sampieri K, Amenduni M, Papa FT, Katzaki E, Mencarelli MA, Marozza A, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Filippis R, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F.

Cancer Sci. 2009 Mar;100(3):465-71. Epub 2009 Jan 29.PMID: 19183342 [PubMed - indexed for MEDLINE]Related articles

The XLMR gene ACSL4 plays a role in dendritic spine architecture.

Meloni I, Parri V, De Filippis R, Ariani F, Artuso R, Bruttini M, Katzaki E, Longo I, Mari F, Bellan C, Dotti CG, Renieri A.

Neuroscience. 2009 Mar 17;159(2):657-69. Epub 2008 Dec 24.PMID: 19166906 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F.

Nephrol Dial Transplant. 2009 May;24(5):1464-71. Epub 2009 Jan 7.PMID: 19129241 [PubMed - indexed for MEDLINE]Related articles

Genomic differences between retinoma and retinoblastoma.

Sampieri K, Mencarelli MA, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F.

Acta Oncol. 2008;47(8):1483-92.PMID: 18785023 [PubMed - indexed for MEDLINE]Related articles

Private inherited microdeletion/microduplications: implications in clinical practice.

Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Ariani F, Meloni I, Hayek J, Balestri P, Mari F, Renieri A.

Eur J Med Genet. 2008 Sep-Oct;51(5):409-16. Epub 2008 Jul 9.PMID: 18657637 [PubMed - indexed for MEDLINE]Related articles

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB.

Am J Med Genet A. 2008 Sep 1;146A(17):2221-6.PMID: 18655112 [PubMed - indexed for MEDLINE]Related articles

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.

Am J Med Genet A. 2008 Aug 1;146A(15):1994-8.PMID: 18627055 [PubMed - indexed for MEDLINE]Related articles

FOXG1 is responsible for the congenital variant of Rett syndrome.

Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.

Am J Hum Genet. 2008 Jul;83(1):89-93. Epub 2008 Jun 19.PMID: 18571142 [PubMed - indexed for MEDLINE]Related articlesFree article

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M.

Brain Dev. 2009 Mar;31(3):208-16. Epub 2008 Jun 17.PMID: 18562141 [PubMed - indexed for MEDLINE]Related articles

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.

Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F.

Am J Med Genet A. 2008 May 1;146A(9):1195-9.PMID: 18348270 [PubMed - indexed for MEDLINE]Related articles

Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.

Grosso S, Pucci L, Curatolo P, Coppola G, Bartalini G, Di Bartolo R, Scarinci R, Renieri A, Balestri P.

Epilepsy Res. 2008 Mar;79(1):63-70. Epub 2008 Feb 20. Review.PMID: 18280703 [PubMed - indexed for MEDLINE]Related articles

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M.

Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2538-43. Epub 2008 Feb 11.PMID: 18268355 [PubMed - indexed for MEDLINE]Related articlesFree article

Three new patients with dup(17)(p11.2p11.2) without autism.

Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A.

Clin Genet. 2008 Mar;73(3):294-6. Epub 2008 Jan 23. No abstract available. PMID: 18218042 [PubMed - indexed for MEDLINE]Related articles

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT.

Hum Mutat. 2008 Apr;29(4):522-31.PMID: 18200586 [PubMed - indexed for MEDLINE]Related articles

A case report: bone marrow mesenchymal stem cells from a Rett syndrome patient are prone to senescence and show a lower degree of apoptosis.

Squillaro T, Hayek G, Farina E, Cipollaro M, Renieri A, Galderisi U.

J Cell Biochem. 2008 Apr 15;103(6):1877-85.PMID: 18059018 [PubMed - indexed for MEDLINE]Related articles

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.

Uliana V, Giordano N, Caselli R, Papa FT, Ariani F, Marcocci C, Gianetti E, Martini G, Papakostas P, Rollo F, Meloni I, Mari F, Priolo M, Renieri A, Nuti R.

Clin Dysmorphol. 2008 Jan;17(1):13-7.PMID: 18049074 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I.

J Hum Genet. 2007;52(12):1011-7. Epub 2007 Nov 8. Erratum in: J Hum Genet. 2008 Mar;53(3):285. PMID: 17990063 [PubMed - indexed for MEDLINE]Related articles

MECP2 deletions and genotype-phenotype correlation in Rett syndrome.

Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F.

Am J Med Genet A. 2007 Dec 1;143A(23):2775-84.PMID: 17968969 [PubMed - indexed for MEDLINE]Related articles

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

Micheli V, Sestini S, Parri V, Fichera M, Romano C, Ariani F, Longo I, Mari F, Bruttini M, Renieri A, Meloni I.

Clin Chim Acta. 2007 Sep;384(1-2):35-40. Epub 2007 May 26.PMID: 17586481 [PubMed - indexed for MEDLINE]Related articles

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

Caselli R, Mencarelli MA, Papa FT, Uliana V, Schiavone S, Strambi M, Pescucci C, Ariani F, Rossi V, Longo I, Meloni I, Renieri A, Mari F.

Eur J Med Genet. 2007 Jul-Aug;50(4):315-21. Epub 2007 Apr 14.PMID: 17512813 [PubMed - indexed for MEDLINE]Related articles

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

Caselli R, Speciale C, Pescucci C, Uliana V, Sampieri K, Bruttini M, Longo I, De Francesco S, Pramparo T, Zuffardi O, Frezzotti R, Acquaviva A, Hadjistilianou T, Renieri A, Mari F.

J Hum Genet. 2007;52(6):535-42. Epub 2007 May 15.PMID: 17502991 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F.

Am J Med Genet A. 2007 Apr 15;143A(8):858-65.PMID: 17352388 [PubMed - indexed for MEDLINE]Related articles

Deciphering the underlying genetic and epigenetic events leading to gastric carcinogenesis.

Vogiatzi P, Vindigni C, Roviello F, Renieri A, Giordano A.

J Cell Physiol. 2007 May;211(2):287-95. Review.PMID: 17238139 [PubMed - indexed for MEDLINE]Related articles

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.

Squillaro T, Cambi F, Ciacci G, Rossi S, Ulivelli M, Malandrini A, Mencarelli MA, Mari F, Renieri A, Ariani F.

J Hum Genet. 2007;52(3):201-4. Epub 2007 Jan 18.PMID: 17235449 [PubMed - indexed for MEDLINE]Related articles

Italian Rett database and biobank.

Sampieri K, Meloni I, Scala E, Ariani F, Caselli R, Pescucci C, Longo I, Artuso R, Bruttini M, Mencarelli MA, Speciale C, Causarano V, Hayek G, Zappella M, Renieri A, Mari F.

Hum Mutat. 2007 Apr;28(4):329-35.PMID: 17186495 [PubMed - indexed for MEDLINE]Related articles

2q24-q31 deletion: report of a case and review of the literature.

Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A.

Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. Epub 2006 Sep 17. Review.PMID: 17088112 [PubMed - indexed for MEDLINE]Related articles

Seizures and electroencephalographic findings in CDKL5 mutations: case report and review.

Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P.

Brain Dev. 2007 May;29(4):239-42. Epub 2006 Oct 16. Review.PMID: 17049193 [PubMed - indexed for MEDLINE]Related articles

The Italian XLMR bank: a clinical and molecular database.

Pescucci C, Caselli R, Mari F, Speciale C, Ariani F, Bruttini M, Sampieri K, Mencarelli MA, Scala E, Longo I, Artuso R, Renieri A, Meloni I; XLMR Italian Network.

Hum Mutat. 2007 Jan;28(1):13-8.PMID: 16983648 [PubMed - indexed for MEDLINE]Related articles

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.

Mari F, Giachino D, Russo L, Pilia G, Ariani F, Scala E, Chiappe F, Sampieri K, Caporossi A, Renieri A, Lasorella G.

J AAPOS. 2006 Jun;10(3):279-80.PMID: 16814186 [PubMed - indexed for MEDLINE]Related articles

Isolated noncompaction of ventricular myocardium in an adult patient with mild dysmorphisms.

Zacà V, Guerrini F, Renieri A, Fruschelli M, Mondillo S.

Minerva Cardioangiol. 2006 Apr;54(2):286-7. No abstract available. PMID: 16778762 [PubMed - indexed for MEDLINE]Related articles

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, Manoukian S, Peissel B, Giachino D, Pasini B, Acquaviva A, Caporossi A, Frezzotti R, Renieri A, Bruttini M.

J Hum Genet. 2006;51(3):209-16. Epub 2006 Feb 4.PMID: 16463005 [PubMed - indexed for MEDLINE]Related articles

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.

Ariani F, Longo I, Frezzotti P, Pescucci C, Mari F, Caporossi A, Frezzotti R, Renieri A.

Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1077-82. Epub 2006 Jan 27.PMID: 16440206 [PubMed - indexed for MEDLINE]Related articles

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I.

Nephrol Dial Transplant. 2006 Mar;21(3):665-71. Epub 2005 Dec 7.PMID: 16338941 [PubMed - indexed for MEDLINE]Related articlesFree article

[Clinical and genetic features of the Alport 'syndromes']

Pescucci C, Longo I, Mari F, Scala E, Bruttini M, Caselli R, Renieri A.

G Ital Nefrol. 2005 Sep-Oct;22(5):466-76. Review. Italian. PMID: 16267804 [PubMed - indexed for MEDLINE]Related articles

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 articles

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]Related articlesFree article

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 articles

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I.

J Cell Physiol. 2005 Jul;204(1):8-20. Review.PMID: 15690397 [PubMed - indexed for MEDLINE]Related articles

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]Related articlesFree article