Detalhe da pesquisa
1.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Hum Mol Genet
; 32(9): 1457-1465, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458889
2.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet
; 32(5): 732-744, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067040
3.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
4.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Clin Genet
; 104(2): 198-209, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198960
5.
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Clin Genet
; 101(1): 87-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664257
6.
Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
Metab Brain Dis
; 36(5): 1049-1056, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33661512
7.
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Am J Med Genet A
; 179(6): 1047-1052, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941910
8.
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.
Clin Genet
; 94(6): 590-591, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308089
9.
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.
Am J Med Genet A
; 170A(4): 881-90, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26804200
10.
A 96-Well Polyacrylamide Gel for Electrophoresis and Western Blotting.
bioRxiv
; 2024 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38765957
11.
Microfluidic Diffusional Sizing (MDS) Measurements of Secretory Neutralizing Antibody Affinity Against SARS-CoV-2.
Ann Biomed Eng
; 52(6): 1653-1664, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459195
12.
SARS-CoV-2 variant introduction following spring break travel and transmission mitigation strategies.
PLoS One
; 19(5): e0301225, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722935
13.
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
Biomedicines
; 12(5)2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790952
14.
Identification and diagnosis of long COVID-19: A scoping review.
Prog Biophys Mol Biol
; 182: 1-7, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37182545
15.
Genomic characterization of explant tumorgraft models derived from fresh patient tumor tissue.
J Transl Med
; 10: 125, 2012 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22709571
16.
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
PLoS One
; 16(7): e0253859, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34228749
17.
A new test for autism spectrum disorder: Metabolic data from different cell types.
Data Brief
; 39: 107598, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877376
18.
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
Mol Genet Genomic Med
; 8(1): e1036, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701662
19.
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Nat Commun
; 11(1): 3698, 2020 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32703943
20.
Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors.
Genome Biol
; 20(1): 49, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30823893