Browsing Centre for Clinical Pharmacology by Author "Tucci, A"
Now showing items 1-20 of 34
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J (2021) -
7p22.1 microduplication syndrome: Refinement of the critical region.
Ronzoni, L; Grassi, FS; Pezzani, L; Tucci, A; Baccarin, M; Esposito, S; Milani, D (2017-02)7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, ... -
The absence that makes the difference: choroidal abnormalities in Legius syndrome.
Tucci, A; Saletti, V; Menni, F; Cesaretti, C; Scuvera, G; Esposito, S; Melloni, G; Esposito, S; Milani, D; Cereda, C (2017-11)Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and ... -
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, V; Dixon, CL; Guo, H; Bello, OD; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S (2019-07-12) -
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A (2021-01-18)The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that ... -
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Chen, Z; Tucci, A; Ryten, M (2023-05-25) -
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Dolzhenko, E; Deshpande, V; Schlesinger, F; Krusche, P; Petrovski, R; Chen, S; Emig-Agius, D; Gross, A; Narzisi, G; Bowman, B (2019-11-15) -
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
Chen, Z; Tucci, A; Cipriani, V; Gustavsson, EK; Ibanez, K; Reynolds, RH; Zhang, D; Vestito, L; Garcia, AC; Sethi, S (2023) -
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; Manole, A; Hamed, SA; Haridy, NA (2016-07)The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ... -
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes
Freeman, TM; Wang, D; Harris, J; Hackett, JM; Halai, D; Hamblin, A; Henderson, S; Holman, JE; Hubbard, TJP; Ibanez, K (Cold Spring Harbor Laboratory Press., 2020-03) -
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Park, J; Tucci, A; Cipriani, V; Demidov, G; Rocca, C; Senderek, J; Butryn, M; Velic, A; Lam, T; Galanaki, E (2022) -
Human and mouse essentiality screens as a resource for disease gene discovery
Cacheiro, P; Munoz-Fuentes, V; Murray, SA; Dickinson, ME; Bucan, M; Nutter, LMJ; Peterson, KA; Haselimashhadi, H; Flenniken, AM; Morgan, H (2020-01-31) -
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
Ferrari, L; Scuvera, G; Tucci, A; Bianchessi, D; Rusconi, F; Menni, F; Battaglioli, E; Milani, D; Riva, P (2017-10)Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The ... -
Identification ofUBAP1mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Bourinaris, T; Smedley, D; Cipriani, V; Sheikh, I; Athanasiou-Fragkouli, A; Chinnery, P; Morris, H; Real, R; Harrison, V; Reid, E (2020-09-15) -
The impact of the 100,000 Genomes Project on rare disease in national healthcare
Smedley, D; Abbs, S; Arno, G; Baple, E; Barnes, M; Beales, P; Bitner-Glindzicz, M; Black, G; Brennan, P; Chan, G (2020-12)Abstract C08.6 from the 53rd European Society of Human Genetics (ESHG) Conference -
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
Tucci, A; Pezzani, L; Scuvera, G; Ronzoni, L; Scola, E; Esposito, S; Milani, D (2017-03)Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed ... -
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.
Tucci, A; Ciaccio, C; Scuvera, G; Esposito, S; Milani, D (2016)BACKGROUND: Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap ... -
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset
Billingsley, KJ; Barbosa, IA; Bandres-Ciga, S; Quinn, JP; Bubb, VJ; Deshpande, C; Botia, JA; Reynolds, RH; Zhang, D; Simpson, MA (Springer Nature, 2019-05-22)Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully ... -
Modelling diagnostic yield in the 100,000 Genomes Rare Disease Project using panel-based analysis and complementary approaches
Thomas, ERA; Pasko, D; Boustred, C; Kasperaviciute, D; Bleda, M; Martin, AR; Smedley, D; McDonagh, E; Brittain, H; Tucci, A (2020-12) -
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability
Reynolds, RH; Botia, J; Nalls, MA; Hardy, J; Taliun, SAG; Ryten, M; Noyce, AJ; Nicolas, A; Cookson, MR; Bandres-Ciga, S (Springer Nature, 2019-04-17)Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence ...