Works by Novelli, Antonio
Results: 232
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 506, doi. 10.1002/humu.24179
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- Article
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
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- Human Mutation, 2017, v. 38, n. 7, p. 798, doi. 10.1002/humu.23224
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- Article
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
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- Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2382
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- Article
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.
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- Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
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- Article
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.
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- 2020
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- Letter
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71667-x
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- Article
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum.
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- 2023
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- Case Study
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 793, doi. 10.3390/brainsci11060793
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- Article
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 839, doi. 10.3390/brainsci10110839
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- Article
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.
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- Biomolecules (2218-273X), 2024, v. 14, n. 11, p. 1450, doi. 10.3390/biom14111450
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- Article
Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
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- Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 725, doi. 10.3390/biom13050725
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- Article
The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.
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- Case Reports in Obstetrics & Gynecology, 2015, v. 2015, p. 1, doi. 10.1155/2015/830108
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- Article
Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia.
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- Cell Death & Disease, 2021, v. 12, n. 8, p. 1, doi. 10.1038/s41419-021-04058-z
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- Article
Inhibition of HECT E3 ligases as potential therapy for COVID-19.
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- Cell Death & Disease, 2021, v. 12, n. 4, p. 1, doi. 10.1038/s41419-021-03513-1
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- Article
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
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- Cell Death & Disease, 2020, v. 11, n. 7, p. 1, doi. 10.1038/s41419-020-2681-z
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- Article
Process Cooling Market in Europe: Assessment of the Final Energy Consumption for the Year 2016.
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- Sustainability (2071-1050), 2023, v. 15, n. 4, p. 3698, doi. 10.3390/su15043698
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- Article
Potential Evolution of the Cooling Market in the EU27+UK: An Outlook until 2030.
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- Sustainability (2071-1050), 2022, v. 14, n. 8, p. N.PAG, doi. 10.3390/su14084461
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- Article
Recent Advances in District Cooling Diffusion in the EU27+UK: An Assessment of the Market.
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- Sustainability (2071-1050), 2022, v. 14, n. 7, p. 4128, doi. 10.3390/su14074128
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- Article
Screening of Cooling Technologies in Europe: Alternatives to Vapour Compression and Possible Market Developments.
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- Sustainability (2071-1050), 2022, v. 14, n. 5, p. N.PAG, doi. 10.3390/su14052971
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- Article
Space Cooling Market in Europe: Assessment of the Final Energy Consumption for the Year 2016.
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- Sustainability (2071-1050), 2022, v. 14, n. 5, p. N.PAG, doi. 10.3390/su14052667
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- Article
A Spatially-Explicit Economic and Financial Assessment of Closed-Loop Ground-Source Geothermal Heat Pumps: A Case Study for the Residential Buildings of Valle d'Aosta Region.
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- Sustainability (2071-1050), 2021, v. 13, n. 22, p. 12516, doi. 10.3390/su132212516
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- Article
Land Use Change Impact on Flooding Areas: The Case Study of Cervaro Basin (Italy).
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- Sustainability (2071-1050), 2016, v. 8, n. 10, p. 996, doi. 10.3390/su8100996
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- Article
Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63586
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- Article
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63580
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- Article
Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1111, doi. 10.1002/ajmg.a.63118
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- Article
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2958, doi. 10.1002/ajmg.a.62919
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- Article
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1836, doi. 10.1002/ajmg.a.62694
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- Article
Clinical refinement of the SETD5‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1623, doi. 10.1002/ajmg.a.62679
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- Article
Congenital heart defects in molecularly confirmed KBG syndrome patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632
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- Article
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 883, doi. 10.1002/ajmg.a.62598
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- Article
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1897, doi. 10.1002/ajmg.a.62180
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- Article
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1509, doi. 10.1002/ajmg.a.62111
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- Article
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1204, doi. 10.1002/ajmg.a.62068
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- Article
Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 242, doi. 10.1002/ajmg.a.61937
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- Article
PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3014, doi. 10.1002/ajmg.a.61889
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- Article
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2372, doi. 10.1002/ajmg.a.61771
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- Article
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1977, doi. 10.1002/ajmg.a.61719
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- Article
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1791, doi. 10.1002/ajmg.a.61605
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- Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
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- Article
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 409, doi. 10.1002/ajmg.a.61445
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- Article
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2083, doi. 10.1002/ajmg.a.61312
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- Article
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1615, doi. 10.1002/ajmg.a.61217
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- Article
Familial aggregation of "apple peel" intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1570, doi. 10.1002/ajmg.a.61195
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- Article
Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 317, doi. 10.1002/ajmg.a.61006
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- Article
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 113, doi. 10.1002/ajmg.a.60674
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- Article
LTBP2‐related "Marfan‐like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 104, doi. 10.1002/ajmg.a.10
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- Article
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2781, doi. 10.1002/ajmg.a.40488
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- Article
Small 4p16.3 deletions: Three additional patients and review of the literature.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512
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- Article
Congenital heart defects in molecularly proven Kabuki syndrome patients.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2912, doi. 10.1002/ajmg.a.38417
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- Article
Cost-effectiveness of exome sequencing: an Italian pilot study on undiagnosed patients.
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- New Genetics & Society, 2019, v. 38, n. 3, p. 249, doi. 10.1080/14636778.2019.1601008
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- Article