Researcher profile · Semantic Scholar

L. Turolla

h-index: 15
Works: 36
Citations: 780

Most-cited papers

NANS-mediated synthesis of sialic acid is required for brain and skeletal development
C. van Karnebeek, L. Bonafė, X. Wen, M. Tarailo-Graovac +42 more
2016Nature Genetics167 citations Open access
Semantic Scholar
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
L. Micale, B. Augello, C. Fusco, A. Selicorni +37 more
2011Orphanet Journal of Rare Diseases100 citations Open access
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Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing
M. C. Aspromonte, Mariagrazia Bellini, A. Gasparini, Marco Carraro +20 more
2019bioRxiv58 citations Open access
Semantic Scholar
Neurofibromatosis-1: a maximum likelihood estimation of mutation rate
M. Clementi, G. Barbujani, L. Turolla, R. Tenconi
2004Human Genetics57 citations
Semantic Scholar
Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.
Maurizio Clementi, Romano Tenconi, L. Turolla, Carla Silvan +2 more
1991American journal of medical genetics54 citations
Semantic Scholar
Clinical anophthalmia: an epidemiological study in northeast Italy based on 368,256 consecutive births.
Maurizio Clementi, L. Turolla, Isabella Mammi, Romano Tenconi
1992Teratology42 citations
Semantic Scholar
Three cases with de novo 6q imbalance and variable prenatal phenotype
F. Grati, F. Lalatta, L. Turolla, Ugo Cavallari +10 more
2005American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Neonatal growth patterns in a population of consecutively born Down syndrome children.
Maurizio Clementi, Elisa Calzolari, L. Turolla, S. Volpato +1 more
2005American journal of medical genetics. Supplement24 citations
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Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.
Maurizio Clementi, Romano Tenconi, F. Bianchi, Lorenzo D. Botto +9 more
1996Birth defects original article series24 citations
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Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.
D. Giardino, P. Finelli, D. Caufin, G. Gottardi +3 more
2002American journal of medical genetics22 citations Open access
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Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome
S. Russo, Francesca Cogliati, M. Viri, F. Cavalleri +5 more
2000Human Mutation22 citations Open access
Semantic Scholar
Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
L. Marcato, L. Turolla, E. Pompilii, C. Dupont +16 more
2014Clinical Case Reports21 citations Open access
Semantic Scholar
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
C. Tran, L. Turolla, D. Ballhausen, Sandrine Cornaz Buros +10 more
2021Molecular Genetics and Metabolism Reports19 citations Open access
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Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome
F. Grati, L. Turolla, Patrizia D’Ajello, A. Ruggeri +10 more
2007Journal of Medical Genetics18 citations Open access
Semantic Scholar
The Effects of Prolonged Cardiopulmonary Bypass on Cell-Mediated Immunity
S. De Angeli, A. Paccagnella, M. Mordacchini, C. Frugoni +6 more
1994The thoracic and cardiovascular surgeon18 citations
Semantic Scholar
How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.
L. Turolla, M. Clementi, R. Tenconi
1990Journal of Medical Genetics14 citations Open access
Semantic Scholar
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Gabriella Vera, A. Sorlin, Geoffroy Delplancq, F. Lecoquierre +44 more
2020European Journal of Medical Genetics12 citations Open access
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FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
E. Fernandez, E. Gennaro, F. Pirozzi, C. Baldo +7 more
2018Frontiers in Genetics12 citations Open access
Semantic Scholar
Fatal Progression of Behçet's Disease after Cardiac Surgery
A. Paccagnella, L. Turolla, G. Zanardo, G. Cipolotti +4 more
1989The thoracic and cardiovascular surgeon12 citations
Semantic Scholar
Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns.
Romano Tenconi, Maurizio Clementi, L. Turolla
1988Journal of Medical Genetics10 citations Open access
Semantic Scholar
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
M. P. Leone, S. Morlino, G. Nardella, R. Pracella +32 more
2023Human Genetics9 citations
Semantic Scholar
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development
C. van Karnebeek, L. Bonafė, X. Wen, M. Tarailo-Graovac +42 more
2017Nature Genetics9 citations Open access
Semantic Scholar
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
M. C. Aspromonte, Mariagrazia Bellini, A. Gasparini, Marco Carraro +20 more
2020Human Mutation7 citations Open access
Semantic Scholar
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.
A. Turco, B. Peissel, Sandro Rossetti, Angelo Selicorni +8 more
1993American journal of medical genetics6 citations
Semantic Scholar
Microstep control of floppy disk drive
D. Ciscato, A. Fehl, L. Turolla
19885 citations
Semantic Scholar
Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.
I. Mammi, R. Basile, S. Bellato, S. Belli +8 more
2003American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
A new family with extra material on proximal 15q.
L. Turolla, Carlo Baccichetti, L. Artifoni, Elisabetta Lenzini +2 more
1989Annales de Genetique4 citations
Semantic Scholar
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease
A. Morgan, Savina Dipresa, L. Turolla, Martina La Bianca +2 more
2020Human Mutation2 citations Open access
Semantic Scholar
FURTHER INVESTIGATIONS WHEN ABDOMINAL WALL DEFECTS ARE DIAGNOSED IN UTERO
M. Clementi, R. Tenconi, L. Turolla, A. Czeizel
19832 citations
Semantic Scholar
Can Nurse-Based Management Screening Ensure Adequate Outcomes in Patients With Gestational Diabetes? A Comparison of 2 Organizational Models
L. Nollino, M. Marcon, E. Kiwanuka, Michela Merlotto-Cazziola +13 more
2019Quality Management in Health Care1 citations
Semantic Scholar
[Energy expenditure during a pregnancy complicated by post-traumatic coma: analysis of 2 clinical cases].
A. Paccagnella, M. Calò, L. Turolla, D. Mazzon +6 more
1994Minerva Anestesiologica1 citations
Semantic Scholar
Editorial: The Skin in Cancer Predisposition Syndromes
L. Turolla, I. Mammi
2021Frontiers in Medicine0 citations Open access
Semantic Scholar
Linkage analysis of neurofibromatosis type 1
M. Clementi, A. Murgia, F. Anglani, R. Tenconi +3 more
2005Human Genetics0 citations
Semantic Scholar
Third European Symposium on the prevention of congenital anomalies (16 October 1992, Palacio Miramar San Sebastian, Spain)
L. Turolla, M. Clementi, F. Bianchi, A. Calabro +4 more
2004European Journal of Epidemiology0 citations
Semantic Scholar
How wideistheclinical spectrumoftheacrocallosal syndrome? Reportofa mildcase
L. Turolla, M. Clementi
19900 citations
Semantic Scholar
Theoretical recurrencerisks forcleft lipderived froma population ofconsecutive newborns
R. Tenconi, M. Clementi, L. Turolla, FromServizio diGenetica Medica
19880 citations
Semantic Scholar

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