about
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeFOXG1 is responsible for the congenital variant of Rett syndromeA third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsAdvances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeThe XLMR gene ACSL4 plays a role in dendritic spine architectureGenomic differences between retinoma and retinoblastoma.Array comparative genomic hybridization in retinoma and retinoblastoma tissues.The Italian XLMR bank: a clinical and molecular database.Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndromeGluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.Revealing the complexity of a monogenic disease: rett syndrome exome sequencingDiagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).Rett syndrome: the complex nature of a monogenic disease.CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsiPS cells to model CDKL5-related disorders.Advances in Alport syndrome diagnosis using next-generation sequencingNon-syndromic X-linked mental retardation: from a molecular to a clinical point of view.Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationNext generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicismAltered expression of neuropeptides in FoxG1-null heterozygous mutant miceMECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory DistressImbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) miceExome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficitVariation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.Efficacy and safety of moxifloxacin in acute exacerbations of chronic bronchitis and COPD: a systematic review and meta-analysis3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.Exploiting the potential of next-generation sequencing in genomic medicine.Visual impairment in FOXG1-mutated individuals and mice.High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.Private inherited microdeletion/microduplications: implications in clinical practice."Omic" Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.Italian Rett database and biobank.A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.
P50
Q24303656-5254E0C9-AA09-46BC-AAA7-874FE3A51C54Q24647431-0F4C3669-D4C6-4043-A80B-894623D828E3Q24678726-E96C8BCB-F31C-4659-B25B-2C4B261CBA70Q26748817-BB83AD35-47E4-4842-9725-E396AEEB2ED0Q28579677-7CB56755-EB0F-4924-A2E9-2F85545DDDD5Q33368684-9B963FEB-E4B7-413E-8E5E-627D6117ADEEQ33404417-1748BF3C-7BE4-4856-92AF-F7252488FC59Q33449677-C8BBEDF2-FEE3-4925-9DB6-E94916D7CD26Q33765360-50F31092-DCA1-4CCA-8686-962DF0F082F1Q34231583-C868AD84-9582-4DB9-B2C2-CFC0B4A85CA7Q34332048-4AF0A144-4E1F-4B7B-8B96-84FC5C23936FQ34611497-9821F66B-CD71-45A2-8809-D0441CECD75BQ34787108-F39E1F95-F7FC-4D25-918B-3C3FC0C92C75Q35128931-8B7F6922-9FAC-4A11-8C57-583E5712FAC5Q35447640-715FA553-B697-4655-9161-6D2207F7915AQ35555588-F773CC28-82AB-4004-BC17-736A75A10B53Q35603690-1FFF873F-2D6A-4B92-9B66-B05F3CEF650BQ36029403-EB7D5508-0819-4002-AEA4-6C420798B900Q36060920-50B66662-B16C-4B47-90C3-B71C3CBA0CC5Q36184594-2348D24B-0F20-4608-90E7-6CBC4531378CQ36475027-B57270AB-F30B-46C8-800A-AFAADFC6D03BQ36628976-429F5E3B-509A-4D11-A240-37292E4CA3E0Q36743532-60652858-D28A-421F-976B-0164CA67779CQ36763149-FE10FF0B-9270-46AF-87C1-12EEF1BA5F60Q36829352-D863E5E7-0525-4368-8391-0117BCC55EB6Q37002460-341C1CD5-B7D4-4DCD-BAC5-E853B9D97345Q37629535-493C197B-CA32-419E-8296-74BCBE60358AQ37706852-162D67D5-5E71-430E-B6B5-4F21D3D1C80AQ38342694-3F82295F-C3DE-4A6C-B4E3-E5096342285FQ38940833-4B6F77D9-7CAE-4568-AE29-F7C3FC64ADC1Q39900115-E5983D73-F511-4C40-B3F5-A78C332079E9Q41733577-E2ECA249-6D9C-4A51-998F-82A199AEDCB5Q41926755-62C3CA0C-0824-4788-851F-56BC4F3D3C7FQ41937721-B5047910-5B8B-4BC0-A822-B9E1EBCF8B9AQ42514523-0BADA81B-194D-47AB-AE67-51983CD69B3AQ46460730-93A25619-39F0-46E7-83E8-24D5DBF96BC1Q47752020-CEF1BC45-A0A2-4403-A8A1-9583DCBFBC38Q48017922-8399B30C-3E14-4EF3-AA59-EC892A574806Q48082652-9B73460C-C3A1-4616-A44A-A6A8118CA361Q48162580-CA6D432D-7275-430B-A7BF-2952159728E8
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Francesca Ariani
@ast
Francesca Ariani
@en
Francesca Ariani
@es
Francesca Ariani
@nl
type
label
Francesca Ariani
@ast
Francesca Ariani
@en
Francesca Ariani
@es
Francesca Ariani
@nl
prefLabel
Francesca Ariani
@ast
Francesca Ariani
@en
Francesca Ariani
@es
Francesca Ariani
@nl
P106
P1153
6508131233
P21
P31
P496
0000-0002-0988-344X