Detalhe da pesquisa
1.
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding.
Clin Auton Res
; 33(3): 251-268, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162653
2.
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.
Genet Med
; 21(7): 1517-1524, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30542204
3.
Familial aggregation in developmental topographical disorientation (DTD).
Cogn Neuropsychol
; 33(7-8): 388-397, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923326
4.
Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients.
Am J Surg Pathol
; 46(7): 963-976, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385405
5.
Evaluation of APOE É2/É3/É4 Alleles in a Cohort of Individuals Affected by Developmental Topographical Disorientation.
J Alzheimers Dis Rep
; 5(1): 565-570, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34514340
6.
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.
Orphanet J Rare Dis
; 13(1): 124, 2018 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30029683
7.
Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
Respir Physiol Neurobiol
; 221: 59-63, 2016 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26555080
8.
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Orphanet J Rare Dis
; 10: 103, 2015 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26302956