Detalles de la búsqueda
1.
A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release.
Mol Psychiatry
; 2024 Feb 06.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38126281
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33159882
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33239752
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34322994
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31124279
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29907982
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34667295
9.
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.
Kidney Int
; 88(6): 1402-1410, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26352300
10.
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
Hum Mol Genet
; 22(2): 391-7, 2013 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23065703
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31063239
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36586784
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36553258
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-20468073
15.
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Nat Commun
; 11(1): 2441, 2020 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32415109
16.
Interleukin-18 gene-deficient mice show enhanced defense and reduced inflammation during pneumococcal meningitis.
J Neuroimmunol
; 138(1-2): 31-7, 2003 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-12742650
17.
Chemotactic activity of CXCL5 in cerebrospinal fluid of children with bacterial meningitis.
J Neuroimmunol
; 145(1-2): 148-53, 2003 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-14644041
18.
CXC-chemokines KC and macrophage inflammatory protein-2 (MIP-2) synergistically induce leukocyte recruitment to the central nervous system in rats.
Immunol Lett
; 85(1): 1-4, 2003 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-12505189
19.
First steps in exploring prospective exome sequencing of consanguineous couples.
Eur J Med Genet
; 57(11-12): 613-6, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25281896
20.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Nat Genet
; 45(11): 1300-8, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24056717