Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
3.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101119, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465576
4.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827498
5.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833411
6.
Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.
Cell Mol Life Sci
; 77(3): 511-529, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218450
7.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
8.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(4): 778, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929740
9.
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Am J Hum Genet
; 93(6): 1100-7, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268661
10.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257424
11.
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
Am J Med Genet A
; 164A(6): 1537-44, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668847
12.
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Oncotarget
; 14: 111-125, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749285
13.
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Eur J Med Genet
; 65(2): 104407, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942405
14.
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
Neurology
; 98(1): e51-e61, 2022 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34649875
15.
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 52(3): 353, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034319
16.
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 51(10): 1438-1441, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570889
17.
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 51(11): 1660, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31611689
18.
Psychiatric adult-onset of urea cycle disorders: A case-series.
Mol Genet Metab Rep
; 12: 103-109, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28725569
19.
[Genomic medicine]. / Médecine génomique.
Rev Prat
; 71(9): 1029-1036, 2021 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-35147327
20.
[Focus on genomic medicine]. / Focus sur la médecine génomique.
Rev Prat
; 71(9): 1037-1038, 2021 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-35147328