| Nome |
# |
|
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-a9c8-2581-e053-d805fe0acbaa
|
557
|
|
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce428-b474-2581-e053-d805fe0acbaa
|
471
|
|
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file e27ce42f-3632-2581-e053-d805fe0acbaa
|
397
|
|
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file e27ce428-b9cb-2581-e053-d805fe0acbaa
|
336
|
|
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce427-8f63-2581-e053-d805fe0acbaa
|
333
|
|
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file e27ce42b-ea0f-2581-e053-d805fe0acbaa
|
312
|
|
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids, file e27ce427-9184-2581-e053-d805fe0acbaa
|
306
|
|
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification, file e27ce42c-0e79-2581-e053-d805fe0acbaa
|
229
|
|
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment., file e27ce42c-1279-2581-e053-d805fe0acbaa
|
218
|
|
Novel mutation of SLC20A2 in an Italian patient presenting with migraine., file e27ce428-b481-2581-e053-d805fe0acbaa
|
204
|
|
HUMAN IPSCS-DERIVED OLIGODENDROCYTES
AND ASTROCYTES: A MODEL FOR AUTOSOMAL
DOMINANT LEUKODYSTROPHY, file 5006be47-9e62-4910-a2ea-c35d980b9dee
|
197
|
|
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes, file e27ce42b-f0f5-2581-e053-d805fe0acbaa
|
180
|
|
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), file e27ce428-b4d6-2581-e053-d805fe0acbaa
|
173
|
|
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa
|
166
|
|
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy, file e27ce42e-5913-2581-e053-d805fe0acbaa
|
162
|
|
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file e27ce430-4df5-2581-e053-d805fe0acbaa
|
157
|
|
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2, file e27ce428-4d69-2581-e053-d805fe0acbaa
|
155
|
|
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file e27ce431-cd02-2581-e053-d805fe0acbaa
|
146
|
|
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells, file e27ce42c-5e51-2581-e053-d805fe0acbaa
|
142
|
|
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa
|
136
|
|
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42e-1afb-2581-e053-d805fe0acbaa
|
136
|
|
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD), file e27ce431-e30b-2581-e053-d805fe0acbaa
|
113
|
|
Recessive gene disruptions in autism spectrum disorder, file e27ce42e-e4b1-2581-e053-d805fe0acbaa
|
111
|
|
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file e27ce42f-0c09-2581-e053-d805fe0acbaa
|
105
|
|
O056. Migraine as presenting symptom of SLC20A2gene mutations, file e27ce42c-19a3-2581-e053-d805fe0acbaa
|
100
|
|
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q, file e27ce42b-129b-2581-e053-d805fe0acbaa
|
95
|
|
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient, file e27ce430-d206-2581-e053-d805fe0acbaa
|
94
|
|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-238b-2581-e053-d805fe0acbaa
|
90
|
|
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy, file e27ce42d-c9ae-2581-e053-d805fe0acbaa
|
85
|
|
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42f-7661-2581-e053-d805fe0acbaa
|
82
|
|
Messanger RNA processing is altered in autosomal dominant leukodystrophy., file e27ce427-699a-2581-e053-d805fe0acbaa
|
79
|
|
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples, file e27ce429-adb7-2581-e053-d805fe0acbaa
|
78
|
|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce431-7ebb-2581-e053-d805fe0acbaa
|
78
|
|
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression, file e27ce426-fbc1-2581-e053-d805fe0acbaa
|
77
|
|
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?, file e27ce430-3932-2581-e053-d805fe0acbaa
|
77
|
|
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-ae49-2581-e053-d805fe0acbaa
|
76
|
|
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids, file e27ce42c-f4e5-2581-e053-d805fe0acbaa
|
75
|
|
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42e-30bf-2581-e053-d805fe0acbaa
|
74
|
|
SLC20A1 Is Involved in Urinary Tract and Urorectal Development, file e27ce430-5ddb-2581-e053-d805fe0acbaa
|
74
|
|
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy, file e27ce430-bd0d-2581-e053-d805fe0acbaa
|
70
|
|
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5), file e27ce430-b008-2581-e053-d805fe0acbaa
|
64
|
|
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question, file e27ce432-483f-2581-e053-d805fe0acbaa
|
62
|
|
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce435-5c41-2581-e053-d805fe0acbaa
|
56
|
|
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes, file e27ce431-ac61-2581-e053-d805fe0acbaa
|
54
|
|
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-a9d2-2581-e053-d805fe0acbaa
|
49
|
|
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file e27ce427-1178-2581-e053-d805fe0acbaa
|
39
|
|
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file e27ce42e-385f-2581-e053-d805fe0acbaa
|
39
|
|
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42f-9f16-2581-e053-d805fe0acbaa
|
39
|
|
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10, file e27ce42c-0269-2581-e053-d805fe0acbaa
|
33
|
|
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease, file e27ce434-4ab5-2581-e053-d805fe0acbaa
|
33
|
|
Recessive gene disruptions in autism spectrum disorder, file e27ce42f-3476-2581-e053-d805fe0acbaa
|
30
|
|
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study, file e27ce435-73ef-2581-e053-d805fe0acbaa
|
20
|
|
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file e27ce42e-c9f1-2581-e053-d805fe0acbaa
|
18
|
|
Recessive gene disruptions in autism spectrum disorder, file e27ce42f-3477-2581-e053-d805fe0acbaa
|
18
|
|
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file e27ce42f-b2d1-2581-e053-d805fe0acbaa
|
17
|
|
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients, file e27ce430-a9d3-2581-e053-d805fe0acbaa
|
16
|
|
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file e27ce42c-7452-2581-e053-d805fe0acbaa
|
13
|
|
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report, file e27ce42f-d5d8-2581-e053-d805fe0acbaa
|
11
|
|
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT), file e27ce42b-ea10-2581-e053-d805fe0acbaa
|
9
|
|
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42d-f818-2581-e053-d805fe0acbaa
|
9
|
|
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation, file e27ce42d-f81a-2581-e053-d805fe0acbaa
|
7
|
|
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-157f-2581-e053-d805fe0acbaa
|
6
|
|
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42d-be0f-2581-e053-d805fe0acbaa
|
6
|
|
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42d-8750-2581-e053-d805fe0acbaa
|
5
|
|
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?, file e27ce42f-aaa9-2581-e053-d805fe0acbaa
|
5
|
|
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy, file 6084ce2c-4133-4c65-8e3f-671f3eefe239
|
4
|
|
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38, file e27ce426-f4f0-2581-e053-d805fe0acbaa
|
4
|
|
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy, file e27ce42d-be10-2581-e053-d805fe0acbaa
|
4
|
|
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42e-b534-2581-e053-d805fe0acbaa
|
4
|
|
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation, file 4a2ea4b2-97a1-427a-b5fa-bb6a62ce8d2f
|
3
|
|
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment., file e27ce42b-ed27-2581-e053-d805fe0acbaa
|
3
|
|
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis, file e27ce42d-0212-2581-e053-d805fe0acbaa
|
3
|
|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4616-2581-e053-d805fe0acbaa
|
3
|
|
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy, file e27ce42e-625c-2581-e053-d805fe0acbaa
|
3
|
|
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?, file e27ce42f-feac-2581-e053-d805fe0acbaa
|
3
|
|
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-ab06-2581-e053-d805fe0acbaa
|
2
|
|
Two families with novel missense mutations in COL4A1: When diagnosis can be missed., file e27ce42b-f3a8-2581-e053-d805fe0acbaa
|
2
|
|
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification, file e27ce42c-0e7a-2581-e053-d805fe0acbaa
|
2
|
|
Cover Image, Volume 170A, Number 7, July 2016, file e27ce42c-2690-2581-e053-d805fe0acbaa
|
2
|
|
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity, file e27ce42d-874f-2581-e053-d805fe0acbaa
|
2
|
|
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file e27ce42d-aced-2581-e053-d805fe0acbaa
|
2
|
|
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants, file e27ce42e-0a52-2581-e053-d805fe0acbaa
|
2
|
|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4617-2581-e053-d805fe0acbaa
|
2
|
|
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification, file e27ce42e-c38b-2581-e053-d805fe0acbaa
|
2
|
|
Recessive gene disruptions in autism spectrum disorder, file e27ce42e-e4b2-2581-e053-d805fe0acbaa
|
2
|
|
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD), file e27ce431-bf35-2581-e053-d805fe0acbaa
|
2
|
|
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file e27ce431-c51a-2581-e053-d805fe0acbaa
|
2
|
|
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD), file e27ce431-df75-2581-e053-d805fe0acbaa
|
2
|
|
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce434-aeb3-2581-e053-d805fe0acbaa
|
2
|
|
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations., file e27ce42b-f3a4-2581-e053-d805fe0acbaa
|
1
|
|
Novel mutation of SLC20A2 in an Italian patient presenting with migraine., file e27ce42b-f567-2581-e053-d805fe0acbaa
|
1
|
|
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10, file e27ce42c-40d4-2581-e053-d805fe0acbaa
|
1
|
|
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes, file e27ce42d-ace7-2581-e053-d805fe0acbaa
|
1
|
|
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file e27ce42e-fdfb-2581-e053-d805fe0acbaa
|
1
|
|
Electroclinical features and outcome of ANKRD11-related KBG syndrome: a novel report and literature review, file e27ce431-c9f9-2581-e053-d805fe0acbaa
|
1
|
| Totale |
7.472 |