Detalhe da pesquisa
1.
Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.
Blood
; 137(2): 238-247, 2021 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32777817
2.
Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond.
Int J Mol Sci
; 22(5)2021 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33671092
3.
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hum Genet
; 127(5): 555-61, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20157829
4.
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Brain
; 131(Pt 3): 772-84, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079167
5.
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Ann Neurol
; 62(6): 656-65, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18067136
6.
47 patients with FLNA associated periventricular nodular heterotopia.
Orphanet J Rare Dis
; 10: 134, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471271
7.
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).
Arch Neurol
; 61(1): 117-21, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14732628
8.
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Neurogenetics
; 8(4): 279-88, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17906881
9.
Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.
Neurogenetics
; 5(2): 83-93, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15045646
10.
High efficacy of clonal growth and expansion of adult neural stem cells.
Lab Invest
; 83(7): 949-62, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12861035
11.
Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.
Eur J Pediatr
; 164(5): 326-8, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15726411