Detalhe da pesquisa
1.
A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release.
Mol Psychiatry
; 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38321119
2.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38126281
3.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384171
4.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Am J Hum Genet
; 107(6): 1044-1061, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159882
5.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752
6.
5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.
Am J Med Genet A
; 185(12): 3844-3850, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34322994
7.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Am J Med Genet A
; 185(8): 2384-2390, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003604
8.
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Hum Genet
; 138(8-9): 1051-1069, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974297
9.
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Am J Med Genet A
; 179(7): 1276-1286, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124279
10.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Hum Mutat
; 39(9): 1173-1192, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907982
11.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(12): 2467, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34667295
12.
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.
Kidney Int
; 88(6): 1402-1410, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352300
13.
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
Hum Mol Genet
; 22(2): 391-7, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23065703
14.
Intestinal lymphangiectasia-A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome.
Am J Med Genet A
; 179(7): 1398-1399, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31063239
15.
The Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort Study.
J Pediatr Surg
; 58(9): 1699-1707, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586784
16.
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Hum Mutat
; 33(8): 1175-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22553128
17.
The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients.
Children (Basel)
; 9(12)2022 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553258
18.
Identical but not the same: the value of discordant monozygotic twins in genetic research.
Am J Med Genet B Neuropsychiatr Genet
; 153B(6): 1134-49, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20468073
19.
Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics.
Acta Ophthalmol
; 98(5): 514-520, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32100474
20.
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Nat Commun
; 11(1): 2441, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415109