Detalhe da pesquisa
1.
Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.
Int J Mol Sci;
25(5)2024 Feb 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38474085
2.
Chromosomal Microarray Study in Prader-Willi Syndrome.
Int J Mol Sci;
24(2)2023 Jan 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36674736
3.
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Am J Med Genet A;
188(10): 3016-3023, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35903967
4.
Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review.
Int J Mol Sci;
23(16)2022 Aug 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36012355
5.
ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
Am J Med Genet A;
185(3): 743-752, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33369194
6.
Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families.
Int J Mol Sci;
22(4)2021 Feb 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33562221
7.
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.
J Med Genet;
56(3): 149-153, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29730598
8.
Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.
Am J Med Genet A;
179(1): 29-36, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30556641
9.
Preliminary observations of mitochondrial dysfunction in Prader-Willi syndrome.
Am J Med Genet A;
176(12): 2587-2594, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30289596
10.
Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review.
Am J Med Genet A;
176(4): 886-895, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29437285
11.
Increased plasma chemokine levels in children with Prader-Willi syndrome.
Am J Med Genet A;
167A(3): 563-71, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25691409
12.
Whole exome sequencing in females with autism implicates novel and candidate genes.
Int J Mol Sci;
16(1): 1312-35, 2015 Jan 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25574603
13.
Healthcare access and disparities in chronic medical conditions in urban populations.
South Med J;
106(4): 246-54, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23558412
14.
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
BMC Med Genomics;
15(1): 169, 2022 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35918752
15.
Central adrenal insufficiency screening with morning plasma cortisol and ACTH levels in Prader-Willi syndrome.
J Pediatr Endocrinol Metab;
35(6): 733-740, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35437976
16.
A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics.
Front Genet;
12: 608889, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34046054
17.
Relationship Between Body Habitus and Aggression Subtypes Among Healthy Young Adults from the American Midwest.
J Aggress Maltreat Trauma;
29(9): 1059-1071, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33281438
18.
Tobacco and cannabis use in college students are predicted by sex-dimorphic interactions between MAOA genotype and child abuse.
CNS Neurosci Ther;
25(1): 101-111, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29952131
19.
Sex-Dimorphic Interactions of MAOA Genotype and Child Maltreatment Predispose College Students to Polysubstance Use.
Front Genet;
10: 1314, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32010186
20.
Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
Mol Genet Genomic Med;
7(4): e00575, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30793526