Detalles de la búsqueda
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38815585
2.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32243864
3.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30587507
4.
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Clin Genet
; 102(1): 72-77, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35347702
5.
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Am J Med Genet A
; 188(3): 959-964, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34904380
6.
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Am J Hum Genet
; 100(1): 138-150, 2017 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28017370
7.
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Genet Med
; 22(10): 1576-1582, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32572181
8.
Catalogue of inherited disorders found among the Irish Traveller population.
J Med Genet
; 55(4): 233-239, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29358271
9.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29386252
10.
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.
Int J Mol Sci
; 19(8)2018 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30071673
11.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
J Med Genet
; 53(3): 152-62, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26543203
12.
Clinical and genetic aspects of KBG syndrome.
Am J Med Genet A
; 170(11): 2835-2846, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27667800
13.
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).
BMC Med Genet
; 14: 48, 2013 Apr 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-23621912
14.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Am J Med Genet A
; 161A(12): 2972-80, 2013 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-24214728
15.
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
Am J Med Genet A
; 158A(5): 1102-10, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22495892
16.
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
Gene
; 685: 50-54, 2019 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30393191
17.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 16, 2019 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-30909959
18.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 12, 2019 02 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-30819258
19.
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.
J Clin Endocrinol Metab
; 93(11): 4389-97, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18728167
20.
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget
; 9(94): 36719, 2018 11 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-30613354