Detalhe da pesquisa
1.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genet Med
; 24(2): 384-397, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906446
2.
Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Am J Med Genet A
; 185(10): 3136-3145, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34223693
3.
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Hum Mol Genet
; 25(19): 4302-4314, 2016 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27506977
4.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Am J Hum Genet
; 91(3): 553-64, 2012 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-22901947
5.
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Mov Disord
; 30(6): 854-8, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25772097
6.
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Mol Genet Metab
; 113(1-2): 76-83, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25087164
7.
Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations.
ACS Omega
; 7(29): 25039-25045, 2022 Jul 26.
Artigo
Inglês
| MEDLINE | ID: mdl-35910155
8.
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34117072
9.
Reply: Mutations in TUBB4A and spastic paraplegia.
Mov Disord
; 30(13): 1858-9, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26477690
10.
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Epileptic Disord
; 12(2): 117-24, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20562086
11.
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Front Mol Neurosci
; 13: 12, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32116545
12.
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Epilepsia
; 50(7): 1679-88, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19400876
13.
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
NPJ Genom Med
; 4: 11, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31231543
14.
Further evidence for allelic heterogeneity in Hartnup disorder.
Hum Mutat
; 29(10): 1217-21, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18484095
15.
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
NPJ Genom Med
; 3: 33, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30564460
16.
Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization.
Eur J Obstet Gynecol Reprod Biol
; 131(2): 127-31, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16759788
17.
Angiopoietin-1 is required for Schlemm's canal development in mice and humans.
J Clin Invest
; 127(12): 4421-4436, 2017 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29106382
18.
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
J Clin Invest
; 126(7): 2575-87, 2016 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27270174
19.
Challenges of diagnostic exome sequencing in an inbred founder population.
Mol Genet Genomic Med
; 1(2): 71-6, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24498604
20.
A novel GEFS+ locus on 12p13.33 in a large Roma family.
Epilepsy Res
; 97(1-2): 198-207, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21917424