Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Clin Genet
; 105(2): 173-184, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37899624
3.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474318
4.
In Vitro and In Vivo Evaluation of the Antifungal Activity of APX001A/APX001 against Candida auris.
Antimicrob Agents Chemother
; 62(3)2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29311065
5.
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
Am J Hum Genet
; 94(3): 470-8, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607389
6.
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Am J Hum Genet
; 87(2): 173-88, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20655035
7.
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Mol Genet Genomic Med
; 10(5): e1917, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318820
8.
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet
; 82(2): 432-43, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252223
9.
Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 170(12): 3348-3351, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27549580
10.
Evaluation of different sources of DNA for use in genome wide studies and forensic application.
Appl Microbiol Biotechnol
; 89(3): 807-15, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20978755
11.
Angelman syndrome with a 15q11q13 deletion in a mother and daughter.
Clin Dysmorphol
; 31(2): 91-93, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34775449
12.
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
BMJ Open
; 6(4): e009537, 2016 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27130160
13.
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
Eur J Hum Genet
; 13(2): 176-83, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15508018
14.
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Hum Genet
; 125(3): 344, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19320021
15.
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Hum Genet
; 125(3): 345, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19320023
16.
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Hum Genet
; 125(3): 345, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19320024
17.
Family MRX9 revisited: further evidence for locus heterogeneity in MRX.
Am J Med Genet
; 112(1): 17-22, 2002 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12239714
18.
Met-204 and Tyr-205 are together important for binding GLP-1 receptor agonists but not their N-terminally truncated analogues.
Protein Pept Lett
; 11(1): 15-22, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14965274
19.
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
BMC Med Genomics
; 6: 1, 2013 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23356856
20.
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Nat Genet
; 42(6): 486-8, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20473311