Detalhe da pesquisa
1.
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Brain
; 146(8): 3513-3527, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917474
2.
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
3.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
4.
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Hum Mol Genet
; 29(13): 2218-2239, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504085
5.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
6.
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Hum Mutat
; 41(10): 1738-1744, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643838
7.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat
; 41(12): 2179-2194, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131181
8.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
9.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
BMC Med Genet
; 21(1): 96, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381069
10.
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Genet Med
; 20(7): 778-784, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837161
11.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Hum Mol Genet
; 24(20): 5845-54, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220973
12.
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.
Am J Med Genet A
; 167A(8): 1890-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846056
13.
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Am J Med Genet A
; 167A(3): 657-63, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691420
14.
A dominant STIM1 mutation causes Stormorken syndrome.
Hum Mutat
; 35(5): 556-64, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24619930
15.
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.
Genes (Basel)
; 15(4)2024 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674434
16.
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.
Am J Med Genet A
; 161A(5): 1137-42, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463539
17.
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
Genes (Basel)
; 14(11)2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002928
18.
A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.
Sci Signal
; 16(771): eadd0509, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749824
19.
A satellite-like sequence, representing a "clone gap" in the human genome, was likely involved in the seeding of a novel centromere in macaque.
Chromosoma
; 118(2): 269-77, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19048265
20.
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.
Cell Calcium
; 85: 102110, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31785581