Alessandro Mauro Spinelli
Overview
Explore the profile of Alessandro Mauro Spinelli including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
16
Citations
121
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Peduto C, Cappuccio G, Zeuli R, Zanobio M, Torella A, Alkuraya F, et al.
Am J Med Genet A
. 2024 Jun;
194(11):e63713.
PMID: 38924631
Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are...
2.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
Res Sq
. 2024 Jun;
PMID: 38903062
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
3.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
medRxiv
. 2023 Jul;
PMID: 37503210
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
4.
Loberti L, Bruno L, Granata S, Doddato G, Resciniti S, Fava F, et al.
Hum Mol Genet
. 2022 Jul;
31(24):4131-4142.
PMID: 35861666
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better...
5.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, et al.
J Med Genet
. 2022 Mar;
60(2):163-173.
PMID: 35256403
Background: Postzygotic activating variants cause several phenotypes within the -related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored...
6.
Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes J, Mercer C, et al.
Am J Med Genet A
. 2022 Jan;
188(5):1384-1395.
PMID: 35025139
Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals affected with Myhre syndrome due...
7.
Whalen S, Shaw M, Mignot C, Heron D, Bastaraud S, Walti C, et al.
Eur J Hum Genet
. 2021 Feb;
29(9):1405-1417.
PMID: 33603160
The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven...
8.
Valencic E, Piscianz E, Sirchia F, Tommasini A, Faletra F, Todaro F, et al.
Immunol Lett
. 2020 Apr;
232:68.
PMID: 32295708
No abstract available.
9.
Di Nora C, Spinelli A, Scarpa M, Livi U
Transplantation
. 2019 Nov;
103(12):e396.
PMID: 31764893
No abstract available.
10.
Valencic E, Piscianz E, Sirchia F, Tommasini A, Faletra F, Todaro F, et al.
Immunol Lett
. 2019 Aug;
214:52-54.
PMID: 31442541
No abstract available.