Detalhe da pesquisa
1.
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.
Clin Genet
; 104(5): 505-515, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434539
2.
Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report.
BMC Endocr Disord
; 23(1): 228, 2023 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864241
3.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Hum Mutat
; 42(4): 373-377, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33492714
4.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037256
5.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586135
6.
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.
Pediatr Diabetes
; 20(3): 366-369, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684292
7.
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
J Hum Genet
; 63(7): 847-850, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29717186
8.
Circulating tumoral DNA: Preanalytical validation and quality control in a diagnostic laboratory.
Anal Biochem
; 542: 34-39, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29137972
9.
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.
J Pathol
; 243(3): 331-341, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28805995
10.
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Am J Hum Genet
; 93(2): 346-56, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891471
11.
Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy.
Pediatr Diabetes
; 16(2): 138-45, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552605
12.
The Effect of ß2-Adrenoceptor Genotype on Phenylephrine Dose Administered During Spinal Anesthesia for Cesarean Delivery.
Anesth Analg
; 120(6): 1309-16, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25730298
13.
Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlations.
BMJ Case Rep
; 17(5)2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697680
14.
Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.
Front Med (Lausanne)
; 11: 1347290, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38745742
15.
The effect of OPRM1 and COMT genotypes on the analgesic response to intravenous fentanyl labor analgesia.
Anesth Analg
; 116(2): 386-91, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23302985
16.
Atypical familial diabetes associated with a novel NEUROD1 nonsense variant.
J Pediatr Endocrinol Metab
; 36(1): 101-104, 2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36222545
17.
Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.
Commun Biol
; 6(1): 1245, 2023 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38066190
18.
A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers.
Alzheimers Res Ther
; 15(1): 101, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37254223
19.
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.
Hum Mutat
; 33(3): 495-503, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102620
20.
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
J Med Genet
; 48(8): 572-6, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21239446