Detalhe da pesquisa
1.
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
J Med Genet;
61(6): 590-594, 2024 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38228391
2.
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Am J Physiol Renal Physiol;
326(5): F780-F791, 2024 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38482553
3.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med;
25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36318270
4.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med;
25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36322151
5.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet;
59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34183358
6.
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hum Genet;
141(2): 283-293, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35031858
7.
Monogenic causes of pigmentary mosaicism.
Hum Genet;
141(11): 1771-1784, 2022 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35503477
8.
Novel CLTC variants cause new brain and kidney phenotypes.
J Hum Genet;
67(1): 1-7, 2022 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34230591
9.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat;
42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33131168
10.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet;
103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30057029
11.
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Clin Genet;
100(6): 722-730, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34569062
12.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat;
41(3): 591-599, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31821646
13.
Bardet-Biedl syndrome and related disorders in Japan.
J Hum Genet;
65(10): 847-853, 2020 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32451492
14.
Influenza virus vaccination in children with nephrotic syndrome: insignificant risk of relapse.
Clin Exp Nephrol;
24(11): 1069-1076, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32720203
15.
A simple, refined approach to diagnosing renovascular hypertension in children: A 10-year study.
Pediatr Int;
62(8): 937-943, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32153091
16.
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
J Hum Genet;
64(9): 885-890, 2019 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31270375
17.
SOFT syndrome in a patient from Chile.
Am J Med Genet A;
179(3): 338-340, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30569574
18.
Coagulopathy as a complication of kidney biopsies in paediatric systemic lupus erythematosus patients with antiphospholipid syndrome.
Nephrology (Carlton);
23(6): 592-596, 2018 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28976051
19.
Treatment of hemolytic uremic syndrome related to Bordetella pertussis infection -is plasma exchange or eculizumab use necessary?
BMC Nephrol;
19(1): 365, 2018 12 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30558570
20.
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
Nephrology (Carlton);
22(7): 566-571, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28621010