Publications by authors named "Elisabetta Lapi"

Claim this Profile
M
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi

Genes (Basel)· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, Sébastien Moutton, François Lecoquierre, Elisabetta Lapi

J Med Genet· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography.
Paola Pelosi, Elisabetta Lapi, Loredana Cavalli, Alberto Verrotti, Marilena Pantaleo

Front Endocrinol (Lausanne)· September 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Elisabetta Lapi

PLoS Genet· March 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bone mineral status and metabolism in patients with Williams-Beuren syndrome.
Stefano Stagi, Cristina Manoni, Perla Scalini, Francesco Chiarelli, Alberto Verrotti, Elisabetta Lapi

Hormones (Athens)· July 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.
Stefano Stagi, Mariarosaria Di Tommaso, Cristina Manoni, Perla Scalini, Francesco Chiarelli, Elisabetta Lapi

Int J Endocrinol· July 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.
Stefano Stagi, Mariarosaria di Tommaso, Perla Scalini, Elisabetta Lapi, Stefania Losi

Fertil Steril· June 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epigenetic control of the immune system: a lesson from Kabuki syndrome.
Stefano Stagi, Anna Virginia Gulino, Elisabetta Lapi, Donato Rigante

Immunol Res· April 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bone status in genetic syndromes: a review.
Stefano Stagi, Chiara Iurato, Elisabetta Lapi, Loredana Cavalli, Maria Luisa Brandi

Hormones (Athens)· January 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Giovanna Traficante, Sabrina Giglio

Hormones (Athens)· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.
Stefano Stagi, Giovanna Traficante, Elisabetta Lapi, Marilena Pantaleo, Sabrina Becciani

BMC Endocr Disord· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Giant multiple bladder diverticula in Williams-Beuren syndrome.
Stefano Stagi, Elisabetta Lapi, Edoardo Martini, Maurizio de Martino

Kidney Int· August 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Massimo Carella, Antonio Petracca

BMC Med Genet· August 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Williams-beuren syndrome is a genetic disorder associated with impaired glucose tolerance and diabetes in childhood and adolescence: new insights from a longitudinal study.
Stefano Stagi, Elisabetta Lapi, Cecilia Cecchi, Francesco Chiarelli, Maria Gabriella D'Avanzo

Horm Res Paediatr· March 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Determinants of vitamin d levels in children and adolescents with down syndrome.
Stefano Stagi, Elisabetta Lapi, Silvia Romano, Sara Bargiacchi, Alice Brambilla

Int J Endocrinol· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM.
Stefano Stagi, Elisabetta Lapi, Salvatore Seminara, Paola Pelosi, Paolo Del Greco

Ital J Pediatr· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Elisabetta Lapi

Hum Mutat· July 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.
Stefano Stagi, Elisabetta Lapi, Maria Gabriella D'Avanzo, Giancarlo Perferi, Silvia Romano

BMC Med Genet· May 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.
Stefano Stagi, Elisabetta Lapi, Salvatore Seminara, Silvia Guarducci, Marilena Pantaleo

BMC Endocr Disord· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara

BMC Med Genet· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, Lucia Perone, Massimo Carella, Elisabetta Lapi

Hum Mol Genet· January 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Elisabetta Lapi

Nature· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Elisabetta Lapi

PLoS Genet· July 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Bruno Dallapiccola, Elisabetta Lapi

Orphanet J Rare Dis· June 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.
Jürgen Klammt, Louise Kobelt, Dilek Aktas, Ismet Durak, Aslan Gokbuget, Elisabetta Lapi

Thromb Haemost· March 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis