Detalhe da pesquisa
1.
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.
Epilepsia
; 65(2): 322-337, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38049202
2.
Seizures in children undergoing stem cell transplantation.
Pediatr Transplant
; 28(1): e14619, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37803946
3.
[Epidemiology and characteristics of SARS-CoV-2 infection in the newborn and pregnant woman. Transplacemental transfer of immunoglobulins]. / Epidemiología y características de la infección por SARS-COV-2 en el recién nacido y la gestante. Transferencia transplacentaria de inmunoglobulinas.
Enferm Infecc Microbiol Clin
; 2022 May 13.
Artigo
Espanhol
| MEDLINE | ID: mdl-35669377
4.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Int J Mol Sci
; 23(15)2022 07 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35955418
5.
A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.
Pediatr Dermatol
; 38(4): 919-925, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34041787
6.
Less common manifestations in TSC.
Am J Med Genet C Semin Med Genet
; 178(3): 348-354, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30156054
7.
Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study.
Am J Med Genet A
; 173(7): 1891-1895, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28488386
8.
Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study.
Dev Med Child Neurol
; 59(10): 1071-1076, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28786492
9.
Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q).
Epilepsy Behav
; 57(Pt A): 133-136, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26949155
10.
Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex.
Pediatr Radiol
; 46(5): 689-94, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26965910
11.
Thyroid nodules on chest CT of patients with tuberous sclerosis complex.
Am J Med Genet A
; 167A(12): 2992-7, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26332136
12.
Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex.
Am J Med Genet A
; 167A(11): 2755-7, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26177838
13.
Lymphedema in tuberous sclerosis complex.
Am J Med Genet A
; 164A(6): 1438-42, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24668795
14.
Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.
Dev Med Child Neurol
; 56(12): 1207-1211, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24954233
15.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Eur J Hum Genet
; 32(3): 324-332, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38282074
16.
Stressor-related disorders in tuberous sclerosis.
Ann Clin Psychiatry
; 25(4): 243-9, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23926580
17.
Response to Letter to the Editor.
Neuropediatrics
; 49(5): 355, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30086556
18.
Klüver-Bucy syndrome after unilateral frontotemporal resection in a child with tuberous sclerosis.
Childs Nerv Syst
; 29(8): 1391-4, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23636147
19.
Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature.
Pediatr Neurol
; 148: 14-16, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37634327
20.
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients.
Eur J Med Genet
; 66(9): 104823, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37619836