Detalhe da pesquisa
1.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
2.
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int
; 102(2): 405-420, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643372
3.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915823
4.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clin Genet
; 102(3): 182-190, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662002
5.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS Genet
; 15(4): e1008088, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034465
6.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
7.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
8.
Molecular diagnosis of kidney transplant failure based on urine.
Am J Transplant
; 20(5): 1410-1416, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814324
9.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Genet Med
; 20(6): 630-638, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758562
10.
Rare copy number variants are a common cause of short stature.
PLoS Genet
; 9(3): e1003365, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23516380
11.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Am J Hum Genet
; 90(3): 565-72, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405089
12.
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Kidney Int
; 86(3): 589-99, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24670410
13.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Eur J Hum Genet
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678163
14.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
; 380(9854): 1674-82, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020937
15.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Genome Med
; 13(1): 63, 2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33874999
16.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
; 63(10): 104004, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32688057
17.
Is MED13L-related intellectual disability a recognizable syndrome?
Eur J Med Genet
; 62(2): 129-136, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959045
18.
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Eur J Hum Genet
; 27(7): 1061-1071, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30809043
19.
Exome Pool-Seq in neurodevelopmental disorders.
Eur J Hum Genet
; 25(12): 1364-1376, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29158550
20.
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Sci Rep
; 7(1): 12225, 2017 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28939912