Michele Pinelli
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Explore the profile of Michele Pinelli including associated specialties, affiliations and a list of published articles.
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956
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Recent Articles
11.
Sy M, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, et al.
Am J Med Genet A
. 2022 Sep;
188(12):3492-3504.
PMID: 36135330
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made...
12.
Cappuccio G, De Bernardi M, Morlando A, Peduto C, Scala I, Pinelli M, et al.
Am J Med Genet A
. 2022 Jul;
188(10):3032-3040.
PMID: 35876338
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X-linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple...
13.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, et al.
Brain
. 2022 Jul;
145(9):3308-3327.
PMID: 35851598
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural...
14.
Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi M, Gensini M, et al.
Am J Med Genet C Semin Med Genet
. 2022 Apr;
190(1):102-108.
PMID: 35488810
Biallelic loss-of-function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals...
15.
Richard E, Bakhtiari S, Marsh A, Kaiyrzhanov R, Wagner M, Shetty S, et al.
Am J Hum Genet
. 2021 Oct;
108(10):2006-2016.
PMID: 34626583
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals...
16.
Salian S, Scala M, Nguyen T, Severino M, Accogli A, Amadori E, et al.
Clin Genet
. 2021 Jul;
100(5):607-614.
PMID: 34296759
Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI)...
17.
Ciaccio C, Duga V, Pantaleoni C, Esposito S, Moroni I, Pinelli M, et al.
Eur J Med Genet
. 2020 Dec;
64(1):104116.
PMID: 33307281
Biallelic loss of function of TELO2 gene cause a severe syndromic disease mainly characterized by global developmental delay with poor motor and language acquisitions, microcephaly, short stature, minor facial and...
18.
Michelini S, Chiurazzi P, Marino V, DellOrco D, Manara E, Baglivo M, et al.
Int J Mol Sci
. 2020 Sep;
21(17).
PMID: 32872468
Lipedema is an often underdiagnosed chronic disorder that affects subcutaneous adipose tissue almost exclusively in women, which leads to disproportionate fat accumulation in the lower and upper body extremities. Common...
19.
Terrone G, Pinelli M, Bernardo P, Parrini E, Imperati F, Brunetti-Pierri N, et al.
Eur J Paediatr Neurol
. 2020 Aug;
28:237-239.
PMID: 32811770
Mutations in SPTAN1 gene are responsible for a wide spectrum of neurodevelopmental disorders including early-onset epileptic encephalopathy with progressive brain atrophy, severe intellectual disability with cerebellar malformations, and relatively milder...
20.
Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, et al.
Hum Mol Genet
. 2020 Jun;
29(13):2250-2260.
PMID: 32533184
We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously unrecognized autosomal recessive disorder that included a severe form...