Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
3.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
4.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Mov Disord
; 38(11): 2103-2115, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605305
5.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
6.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163737
7.
Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.
J Gene Med
; 22(8): e3197, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246869
8.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
9.
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
Clin Genet
; 95(3): 420-426, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30633342
10.
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Am J Med Genet A
; 179(6): 1030-1033, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903679
11.
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbß3 Activation.
Arterioscler Thromb Vasc Biol
; 37(6): 1087-1097, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28428218
12.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat
; 38(10): 1297-1315, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603918
13.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
J Hum Genet
; 61(8): 693-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193221
14.
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Am J Med Genet A
; 170(10): 2681-93, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27311832
15.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648933
16.
Heterogeneity of platelet functional alterations in patients with filamin A mutations.
Arterioscler Thromb Vasc Biol
; 33(1): e11-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23117662
17.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HGG Adv
; 5(3): 100287, 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553851
18.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872275
19.
The experimental renal cell carcinoma model in the chick embryo.
Angiogenesis
; 16(1): 181-94, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23076651
20.
Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
Mol Genet Metab
; 110(1-2): 90-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23920044