Detalhe da pesquisa
1.
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 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465576
2.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077597
3.
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
Am J Hum Genet
; 98(5): 909-918, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132593
4.
MAGEL2-related disorders: A study and case series.
Clin Genet
; 96(6): 493-505, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397880
5.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A
; 179(10): 2075-2082, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361404
6.
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
J Med Genet
; 54(1): 54-62, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600704
7.
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Hum Mutat
; 36(10): 1004-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26183434
8.
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Genet Med
; 17(10): 782-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569433
9.
Dopamine D1-like receptors regulate the α1A-adrenergic receptor in human renal proximal tubule cells and D1-like dopamine receptor knockout mice.
Am J Physiol Renal Physiol
; 307(11): F1238-48, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339698
10.
Novel role of sorting nexin 5 in renal D(1) dopamine receptor trafficking and function: implications for hypertension.
FASEB J
; 27(5): 1808-19, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23195037
11.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585811
12.
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Am J Hum Genet
; 94(1): 105-12, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387990
13.
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Eur J Hum Genet
; 29(5): 816-826, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33649541
14.
Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice.
J Vis Exp
; (153)2019 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31789317
15.
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Front Genet
; 8: 79, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663758
16.
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Mol Syndromol
; 5(6): 268-75, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25565926
17.
Mechanisms of fetal programming in hypertension.
Int J Pediatr
; 2012: 584831, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22319540