Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
2.
Expansion of the phenotype of lateral meningocele syndrome.
Am J Med Genet A
; 182(5): 1259-1262, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141180
3.
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
Brain
; 142(7): e39, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145451
4.
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.
Epilepsy Behav
; 103(Pt A): 106578, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680025
5.
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
Brain
; 140(7): 1885-1899, 2017 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575153
6.
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
Clin Genet
; 97(6): 940-942, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32349160
7.
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
J Peripher Nerv Syst
; 20(4): 415-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307494
8.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain
; 137(Pt 5): 1350-60, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24645144
9.
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(1): 190-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243641
10.
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder?
Minerva Pediatr
; 71(4): 391-393, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30961341
11.
Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument.
J Headache Pain
; 15: 57, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25178699
12.
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.
J Clin Med
; 13(4)2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38398422
13.
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Ann Neurol
; 82(4): 650-651, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28972664
14.
The Pediatric Symptom Checklist as screening tool for neurological and psychosocial problems in a paediatric cohort of patients with coeliac disease.
Acta Paediatr
; 102(7): e325-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23521635
15.
Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment.
Minerva Pediatr (Torino)
; 75(4): 476-481, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129950
16.
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
Am J Med Genet A
; 158A(4): 832-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407589
17.
Diagnosis delay in West syndrome: misdiagnosis and consequences.
Eur J Pediatr
; 171(11): 1695-701, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22892960
18.
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature.
J Paediatr Child Health
; 48(10): 886-90, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20500440
19.
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Eur J Paediatr Neurol
; 40: 69-72, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031702
20.
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
Am J Med Genet A
; 155A(7): 1697-705, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671372