Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
Evaluation of Automated Magnetic Bead-Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.
J Clin Lab Anal
; 38(6): e25029, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38506401
3.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
4.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Clin Genet
; 103(2): 226-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189577
5.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC Cancer
; 22(1): 706, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761208
6.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Genet Med
; 23(8): 1492-1497, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33911214
7.
Audit of sweat chloride testing reveals analytical errors.
Clin Chem Lab Med
; 59(8): 1376-1383, 2021 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33826811
8.
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Brain
; 142(1): 80-92, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30544257
9.
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Kidney Int
; 96(1): 222-230, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31027891
10.
Parental mosaicism in epilepsies due to alleged de novo variants.
Epilepsia
; 60(6): e63-e66, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077350
11.
A rare combination of hydronephrosis, megaureter, and hyperphosphatasia.
Kidney Int
; 104(5): 1039-1040, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37863628
12.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Ann Neurol
; 80(4)2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543892
13.
Colonization of CF patients' upper airways with S. aureus contributes more decisively to upper airway inflammation than P. aeruginosa.
Med Microbiol Immunol
; 205(5): 485-500, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27377929
14.
Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients' Upper and Lower Airways after IV-Antibiotic Therapy.
Mediators Inflamm
; 2015: 626530, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185365
15.
Reduced effect of intravenous antibiotic treatment on sinonasal markers in pulmonary inflammation.
Rhinology
; 53(3): 249-59, 2015 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26363166
16.
Dynamics of soluble and cellular inflammatory markers in nasal lavage obtained from cystic fibrosis patients during intravenous antibiotic treatment.
BMC Pulm Med
; 14: 82, 2014 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885494
17.
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Eur J Hum Genet
; 31(10): 1154-1164, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460657
18.
Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome.
Cancers (Basel)
; 15(15)2023 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37568754
19.
The Posttraumatic Increase in the Adhesion of GPCR EMR2/ADGRE2 to Circulating Neutrophils Is Not Related to Injury Severity.
Cells
; 12(22)2023 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37998392
20.
Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.
Front Genet
; 14: 1297754, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38188501