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Items: 27

1.

Can Nurse-Based Management Screening Ensure Adequate Outcomes in Patients With Gestational Diabetes? A Comparison of 2 Organizational Models.

Nollino L, Marcon ML, Kiwanuka E, Merlotto-Cazziola M, Sambataro M, Sambado L, Trevisiol E, Scantamburlo A, Mauri A, Busato E, Pirolo R, Boaretto M, Turolla L, Faronato PP, Cadamuro-Morgante M, Migot R, Paccagnella A.

Qual Manag Health Care. 2019 Jan/Mar;28(1):51-62. doi: 10.1097/QMH.0000000000000202.

PMID:
30586123
2.

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene.

Fernández E, Gennaro E, Pirozzi F, Baldo C, Forzano F, Turolla L, Faravelli F, Gastaldo D, Coviello D, Grasso M, Bagni C.

Front Genet. 2018 Nov 2;9:442. doi: 10.3389/fgene.2018.00442. eCollection 2018.

3.

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
4.

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.

5.

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

Jannes CE, Santos RD, de Souza Silva PR, Turolla L, Gagliardi AC, Marsiglia JD, Chacra AP, Miname MH, Rocha VZ, Filho WS, Krieger JE, Pereira AC.

Atherosclerosis. 2015 Jan;238(1):101-7. doi: 10.1016/j.atherosclerosis.2014.11.009. Epub 2014 Nov 14.

PMID:
25461735
6.

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, Grati FR.

Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6.

7.

Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.

Santos PC, Morgan AC, Jannes CE, Turolla L, Krieger JE, Santos RD, Pereira AC.

Atherosclerosis. 2014 Mar;233(1):206-10. doi: 10.1016/j.atherosclerosis.2013.12.028. Epub 2014 Jan 4.

PMID:
24529145
8.

Extensive xanthomas and severe subclinical atherosclerosis in homozygous familial hypercholesterolemia.

Rocha VZ, Chacra AP, Salgado W, Miname M, Turolla L, Gagliardi AC, Ribeiro EE, Rocha RP, Avila LF, Pereira A, Nakandakare ER, Santos RD.

J Am Coll Cardiol. 2013 May 28;61(21):2193. doi: 10.1016/j.jacc.2012.11.079. Epub 2013 Mar 26. No abstract available.

9.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.

Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38.

10.

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G.

J Med Genet. 2007 Apr;44(4):257-63. Epub 2007 Jan 26.

11.

Three cases with de novo 6q imbalance and variable prenatal phenotype.

Grati FR, Lalatta F, Turolla L, Cavallari U, Gentilin B, Rossella F, Cetin I, Antonazzo P, Bellotti M, Dulcetti F, Baldo D, Tenconi R, Simoni G, Miozzo M.

Am J Med Genet A. 2005 Jul 30;136(3):254-8.

PMID:
15957159
12.

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
13.

Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.

Giardino D, Finelli P, Caufin D, Gottardi G, Lo Vasco R, Turolla L, Larizza L.

Am J Med Genet. 2002 Feb 15;108(1):36-40.

PMID:
11857547
14.

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Russo S, Cogliati F, Viri M, Cavalleri F, Selicorni A, Turolla L, Belli S, Romeo A, Larizza L.

Hum Mutat. 2000 Apr;15(4):387.

PMID:
10737998
15.

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
16.

[Energy expenditure during a pregnancy complicated by post-traumatic coma: analysis of 2 clinical cases].

Paccagnella A, Calo MA, Turolla L, Mazzon D, Dacomo A, Pasa G, Caenaro G, Baratto V, Baiocchi M, Simini G.

Minerva Anestesiol. 1994 Sep;60(9):461-6. Italian.

PMID:
7808652
17.

The effects of prolonged cardiopulmonary bypass on cell-mediated immunity.

De Angeli S, Paccagnella A, Mordacchini M, Frugoni C, Zanardo G, Turolla L, Calò MA, Rosi P, Nieri A, Simini G.

Thorac Cardiovasc Surg. 1994 Feb;42(1):14-20.

PMID:
8184386
18.

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.

Turco AE, Peissel B, Rossetti S, Selicorni A, Manoukian S, Brusasco A, Tadini G, Galimberti A, Tassis B, Turolla L, et al.

Am J Med Genet. 1993 Dec 1;47(8):1225-30.

PMID:
8291561
19.

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
20.

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.

Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L.

Am J Med Genet. 1991 Nov 1;41(2):246-50.

PMID:
1785643
21.

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.

Clementi M, Murgia A, Anglani F, Tenconi R, Turolla L, Picci L, Zacchello F.

Hum Genet. 1991 May;87(1):91-4.

PMID:
1674720
22.

How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

Turolla L, Clementi M, Tenconi R.

J Med Genet. 1990 Aug;27(8):516-8.

23.

Neonatal growth patterns in a population of consecutively born Down syndrome children.

Clementi M, Calzolari E, Turolla L, Volpato S, Tenconi R.

Am J Med Genet Suppl. 1990;7:71-4.

PMID:
2149978
24.

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.

Clementi M, Barbujani G, Turolla L, Tenconi R.

Hum Genet. 1990 Jan;84(2):116-8.

PMID:
2105266
25.

Fatal progression of Behçet's disease after cardiac surgery.

Paccagnella A, Turolla LM, Zanardo G, Cipolotti G, Rocco F, Salandin V, Calò M, Simini G.

Thorac Cardiovasc Surg. 1989 Oct;37(5):320-1.

PMID:
2588252
26.

A new family with extra material on proximal 15q.

Turolla L, Baccichetti C, Artifoni L, Lenzini E, Leszl A, Tenconi R.

Ann Genet. 1989;32(4):230-2.

PMID:
2610489
27.

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