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1.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38054406
2.
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
Medicina (Kaunas)
; 60(2)2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38399542
3.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37079061
4.
Bi-allelic LoF NRROS Variants Impairing Active TGF-ß1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
; 106(4): 559-569, 2020 04 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32197075
5.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35904121
6.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Genet Med
; 24(1): 51-60, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906459
7.
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
Int J Mol Sci
; 23(6)2022 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35328505
8.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35163737
9.
Very early prenatal diagnosis of Cockayne's syndrome by coelocentesis.
J Obstet Gynaecol
; 42(5): 1524-1531, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35006018
10.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32170002
11.
Elutriate preparation affects embryo development test with Paracentrotus lividus: An in-depth study on the differences between two protocols and three different sediment/water mixing times.
Ecotoxicol Environ Saf
; 212: 112010, 2021 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33550081
12.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Hum Genet
; 138(3): 257-269, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30806792
13.
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
BMC Pediatr
; 19(1): 86, 2019 03 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30922288
14.
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
Blood
; 126(1): 89-93, 2015 Jul 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-26019277
15.
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
J Med Genet
; 52(12): 804-14, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26424144
16.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Hum Genet
; 134(6): 613-26, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25805166
17.
The EU Interreg Project "GEREMIA" on waste management for the improvement of port waters: results on monitoring the health status of fish as bioindicator.
Environ Sci Pollut Res Int
; 31(12): 17617-17633, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36719589
18.
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
Am J Med Genet A
; 161A(11): 2902-8, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24123798
19.
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.
Front Neurol
; 14: 1090082, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36824420
20.
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis.
Am J Med Genet A
; 158A(1): 150-4, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22105932