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Items: 42

1.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E.

Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2.

PMID:
31209962
2.

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.

Cini G, Quaia M, Canzonieri V, Fornasarig M, Maestro R, Morabito A, D'Elia AV, Urso ED, Mammi I, Viel A.

Mol Genet Genomic Med. 2019 May;7(5):e587. doi: 10.1002/mgg3.587. Epub 2019 Mar 27.

3.

Letter to Editor: Reply to R.T. Casey (Semin Oncol. 2018 Jun;45(3):151-155).

Caccese M, Ceccato F, Fassan M, Fassina A, Padovan M, Mammi I, Iacobone M, Scaroni C, Zagonel V, Lombardi G.

Semin Oncol. 2019 Feb;46(1):104-105. doi: 10.1053/j.seminoncol.2018.12.005. Epub 2019 Jan 2. No abstract available.

PMID:
30655020
4.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
5.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T.

Birth Defects Res. 2018 Mar 1;110(4):382-389. doi: 10.1002/bdr2.1154. Epub 2017 Nov 28.

PMID:
29193896
6.

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

Recalcati MP, Bonati MT, Beltrami N, Cardarelli L, Catusi I, Costa A, Garzo M, Mammi I, Mattina T, Nalesso E, Nardone AM, Postorivo D, Sajeva A, Varricchio A, Verri A, Villa N, Larizza L, Giardino D.

Eur J Med Genet. 2018 Mar;61(3):173-180. doi: 10.1016/j.ejmg.2017.11.007. Epub 2017 Nov 23. Review.

PMID:
29174090
7.

Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome.

Galuppini F, Opocher E, Tabori U, Mammi I, Edwards M, Campbell B, Kelly J, Viel A, Quaia M, Rivieri F, D'Avella D, Arcella A, Giangaspero F, Fassan M, Gardiman MP.

Neuropathol Appl Neurobiol. 2018 Feb;44(2):233-239. doi: 10.1111/nan.12450. No abstract available.

PMID:
29130549
8.

Spatial effects in hospital expenditures: A district level analysis.

Lippi Bruni M, Mammi I.

Health Econ. 2017 Sep;26 Suppl 2:63-77. doi: 10.1002/hec.3558.

PMID:
28940913
9.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
10.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

11.

Does the extension of primary care practice opening hours reduce the use of emergency services?

Lippi Bruni M, Mammi I, Ugolini C.

J Health Econ. 2016 Dec;50:144-155. doi: 10.1016/j.jhealeco.2016.09.011. Epub 2016 Oct 8.

PMID:
27744236
12.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Erratum in: Nat Genet. 2017 May 26;49(6):969.

13.

Peptide Patterns as Discriminating Biomarkers in Plasma of Patients With Familial Adenomatous Polyposis.

Agatea L, Crotti S, Ragazzi E, Bedin C, Urso E, Mammi I, Traldi P, Pucciarelli S, Nitti D, Agostini M.

Clin Colorectal Cancer. 2016 Sep;15(3):e75-92. doi: 10.1016/j.clcc.2015.12.002. Epub 2015 Dec 19.

PMID:
26792031
14.

Dealing with minor illnesses: The link between primary care characteristics and Walk-in Centres' attendances.

Ugolini C, Lippi Bruni M, Mammi I, Donatini A, Fiorentini G.

Health Policy. 2016 Jan;120(1):72-80. doi: 10.1016/j.healthpol.2015.10.009. Epub 2015 Nov 12.

PMID:
26657741
15.

[A case of micropenis with strong genetic basis].

Bolla G, Mammi I.

Pediatr Med Chir. 2013 May-Jun;35(3):134-6. Italian.

PMID:
23947114
16.

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E.

Am J Med Genet A. 2013 Feb;161A(2):273-84. doi: 10.1002/ajmg.a.35717. Epub 2013 Jan 15.

PMID:
23322667
17.

Soft tissue sarcoma and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome: formulation of an hypothesis.

Urso E, Agostini M, Pucciarelli S, Bedin C, D'angelo E, Mescoli C, Viel A, Maretto I, Mammi I, Nitti D.

Mol Biol Rep. 2012 Oct;39(10):9307-10. doi: 10.1007/s11033-012-1729-2. Epub 2012 Jul 11. Review.

PMID:
22782591
18.

Factors affecting the treatment of multiple colorectal adenomas.

Urso ED, Nascimbeni R, Pucciarelli S, Agostini M, Casella C, Moneghini D, Di Lorenzo D, Maretto I, Sullivan M, Mammi I, Viel A, Nitti D.

Surg Endosc. 2013 Jan;27(1):207-13. doi: 10.1007/s00464-012-2421-2. Epub 2012 Jul 7.

PMID:
22773231
19.

APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation.

Agostini M, Bedin C, Pucciarelli S, Enzo M, Briarava M, Seraglia R, Ragazzi E, Traldi P, Molin L, Urso ED, Mammi I, Viel A, Lise M, Tasciotti E, Biasiolo A, Pontisso P, Nitti D.

Int J Biol Markers. 2012 Jan-Mar;27(1):13-9. doi: 10.5301/JBM.2011.8908.

PMID:
22180177
20.

Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy.

Lenzini E, Drigo P, Redaelli S, Mammi I, Rosa-Rizzotto M, Dalprà L.

Genet Test Mol Biomarkers. 2010 Oct;14(5):695-701. doi: 10.1089/gtmb.2010.0079. Epub 2010 Sep 20.

PMID:
20854099
21.

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R.

Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa.

PMID:
20531206
22.

The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle.

Avezzù A, Agostini M, Pucciarelli S, Lise M, Urso ED, Mammi I, Maretto I, Enzo MV, Pastrello C, Lise M, Nitti D, Viel A.

Cancer Lett. 2008 Sep 18;268(2):308-13. doi: 10.1016/j.canlet.2008.04.004. Epub 2008 May 20.

PMID:
18495334
23.

Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.

Toldo I, Drigo P, Mammi I, Marini V, Carollo C.

Surg Neurol. 2009 Feb;71(2):167-71. doi: 10.1016/j.surneu.2007.07.067. Epub 2008 Jan 22.

PMID:
18207546
24.

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC.

Neurology. 2007 Sep 18;69(12):1285-92. Epub 2007 Mar 21.

PMID:
17377071
25.

Paternal origin of LMNA mutations in Hutchinson-Gilford progeria.

D'Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G.

Clin Genet. 2004 Jan;65(1):52-4. No abstract available.

PMID:
15032975
26.

Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.

Mammi I, Basile RT, Bellato S, Belli S, Benedicenti F, Boni S, Castellan C, Clementi M, Di Gianantonio E, Petrella M, Turolla L, Tenconi R.

Am J Med Genet A. 2003 Sep 1;121A(3):214-8. Erratum in: Am J Med Genet A. 2011 Apr;155A(4):942. multiple author names corrected.

PMID:
12923860
27.

CCM1 gene mutations in families segregating cerebral cavernous malformations.

Davenport WJ, Siegel AM, Dichgans J, Drigo P, Mammi I, Pereda P, Wood NW, Rouleau GA.

Neurology. 2001 Feb 27;56(4):540-3.

PMID:
11222804
28.

Neurofibromatosis type 1 growth charts.

Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R.

Am J Med Genet. 1999 Dec 3;87(4):317-23.

PMID:
10588837
29.

Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome.

Bisogno G, Murgia A, Mammi I, Strafella MS, Carli M.

J Pediatr Hematol Oncol. 1999 Sep-Oct;21(5):424-7.

PMID:
10524458
30.

Methimazole embryopathy: delineation of the phenotype.

Clementi M, Di Gianantonio E, Pelo E, Mammi I, Basile RT, Tenconi R.

Am J Med Genet. 1999 Mar 5;83(1):43-6. Review.

PMID:
10076883
31.

Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?

Mammi I, De Giorgio P, Clementi M, Tenconi R.

Acta Ophthalmol Scand. 1998 Aug;76(4):509-12. Review.

32.

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.

Zolezzi F, Valli M, Clementi M, Mammi I, Cetta G, Pignatti PF, Mottes M.

Am J Med Genet. 1997 Aug 22;71(3):366-70.

PMID:
9268111
34.

Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved.

Mammi I, Iles DE, Smeets D, Clementi M, Tenconi R.

Hum Genet. 1996 Sep;98(3):317-20.

PMID:
8707301
35.

Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.

Clementi M, Tenconi R, Bianchi F, Botto L, Calabro A, Calzolari E, Cianciulli D, Mammi I, Mastroiacovo P, Meli P, Spagnolo A, Turolla L, Volpato S.

Birth Defects Orig Artic Ser. 1996;30(1):413-24. No abstract available.

PMID:
9125347
36.

Clinical application of genetic polymorphism in neurofibromatosis type 1.

Clementi M, Boni S, Mammi I, Favarato M, Tenconi R.

Ann Genet. 1996;39(2):92-6.

PMID:
8766140
37.

Familial cerebral, hepatic, and retinal cavernous angiomas.

Drigo P, Battistella PA, Mammi I.

Childs Nerv Syst. 1995 Feb;11(2):65. No abstract available.

PMID:
7758014
38.

Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome.

Drigo P, Mammi I, Battistella PA, Ricchieri G, Carollo C.

Childs Nerv Syst. 1994 May;10(4):205-9.

PMID:
7923228
39.

Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

Clementi M, Bellato S, Rossetti A, Mammi I, Tenconi R.

Am J Med Genet. 1993 Jul 1;46(6):724-6.

PMID:
8362918
40.

Clinical anophthalmia: an epidemiological study in northeast Italy based on 368,256 consecutive births.

Clementi M, Turolla L, Mammi I, Tenconi R.

Teratology. 1992 Dec;46(6):551-3.

PMID:
1290155
41.

[Our experience on early osteosynthesis in exposed fractures].

Mammi IG, Sardi A.

Minerva Ortop. 1969 Apr;20(4):159-75. Italian. No abstract available.

PMID:
5385845
42.

[Our experiences in the treatment of fractures of the tibial plateau].

Mammi I.

Minerva Ortop. 1967 Jun;18(6):354-5. Italian. No abstract available.

PMID:
5606739

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