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1.
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.
Hum Mol Genet
; 32(10): 1683-1697, 2023 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36645181
2.
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence.
Hum Mol Genet
; 31(22): 3846-3854, 2022 11 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35717577
3.
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
Hum Mol Genet
; 31(24): 4173-4182, 2022 12 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-35861646
4.
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
Am J Med Genet A
; : e63614, 2024 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38562108
5.
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
Am J Med Genet A
; 2024 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-38407561
6.
SALL4 deletion and kidney and cardiac defects associated with VACTERL association.
Pediatr Nephrol
; 2024 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38329589
7.
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.
BMC Neurol
; 23(1): 211, 2023 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37264311
8.
Café-au-lait Spots and Cleft Palate: Not a Chance Association.
Cleft Palate Craniofac J
; : 10556656231188205, 2023 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-37448313
9.
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
J Pediatr
; 244: 38-48.e1, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35131284
10.
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.
Am J Med Genet A
; 188(8): 2472-2478, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35567499
11.
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Am J Med Genet A
; 188(2): 446-453, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34652060
12.
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Am J Med Genet A
; 188(4): 1184-1192, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35018717
13.
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy.
Neuropediatrics
; 53(1): 65-68, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34448181
14.
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Am J Med Genet A
; 185(3): 884-888, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33369122
15.
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
Am J Med Genet A
; 185(3): 999-1003, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33382209
16.
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Am J Med Genet A
; 185(6): 1836-1840, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33650182
17.
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
Am J Med Genet A
; 185(4): 1182-1186, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33381903
18.
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.
Am J Med Genet A
; 185(5): 1544-1549, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33619830
19.
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.
Am J Med Genet A
; 185(3): 866-870, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33300650
20.
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Am J Med Genet A
; 185(7): 2084-2093, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33973697