Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163662
3.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
4.
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
Am J Med Genet A
; 191(10): 2656-2663, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466007
5.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699229
6.
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
J Neural Transm (Vienna)
; 129(11): 1387-1391, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36205783
7.
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Hum Mol Genet
; 27(8): 1343-1352, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432577
8.
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Clin Genet
; 97(2): 362-369, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600839
9.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302074
10.
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation.
Int J Mol Sci
; 21(22)2020 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33203140
11.
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
PLoS Genet
; 12(5): e1006022, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27166630
12.
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.
Am J Med Genet A
; 176(12): 2862-2866, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561130
13.
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
Hum Mutat
; 38(6): 621-636, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28236339
14.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206890
15.
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Am J Med Genet A
; 173(9): 2545-2550, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777483
16.
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Am J Med Genet A
; 173(10): 2736-2742, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742244
17.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature
; 478(7367): 57-63, 2011 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937992
18.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat
; 37(9): 847-64, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302555
19.
Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
Breast Cancer Res Treat
; 159(3): 585-90, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27581129
20.
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
Am J Med Genet A
; 170(9): 2394-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27255444