Detalhe da pesquisa
1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772379
2.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865086
3.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
4.
RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation.
Cell
; 139(5): 999-1011, 2009 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-19945382
5.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
6.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
7.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422718
8.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
9.
Solving the unsolved genetic epilepsies: Current and future perspectives.
Epilepsia
; 64(12): 3143-3154, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750451
10.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
11.
The trans-activator RNF12 and cis-acting elements effectuate X chromosome inactivation independent of X-pairing.
Mol Cell
; 53(6): 965-78, 2014 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613346
12.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811157
13.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
14.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Genet Med
; 22(4): 797-802, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776469
15.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
16.
RNF12 controls embryonic stem cell fate and morphogenesis in zebrafish embryos by targeting Smad7 for degradation.
Mol Cell
; 46(5): 650-61, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22560923
17.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(11): 100964, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728613
18.
RNF12 initiates X-chromosome inactivation by targeting REX1 for degradation.
Nature
; 485(7398): 386-90, 2012 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22596162
19.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373908
20.
X chromosome inactivation in the cycle of life.
Development
; 139(12): 2085-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22619385