Detalhe da pesquisa
1.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 683-694, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545674
2.
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Acta Neuropathol
; 135(5): 727-742, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423877
3.
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Am J Hum Genet
; 90(3): 540-9, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387016
4.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Nat Genet
; 30(4): 406-10, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11865300
5.
[Lobotomy]. / Lobotomia oli oman aikansa tuote.
Duodecim
; 129(14): 1499-501, 2013.
Artigo
em Fi
| MEDLINE | ID: mdl-23961609
6.
Cord blood chemokines differentiate between spontaneous and elective preterm births in singleton pregnancies.
Cytokine
; 54(1): 85-91, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21288736
7.
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.
Genes Chromosomes Cancer
; 48(7): 544-51, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373782
8.
Radiation-induced meningiomas: a shadow in the success story of childhood leukemia.
Neuro Oncol
; 11(5): 543-9, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19179425
9.
Blood cytokines during the perinatal period in very preterm infants: relationship of inflammatory response and bronchopulmonary dysplasia.
J Pediatr
; 154(1): 39-43.e3, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18760808
10.
Cord immunoproteins as predictors of respiratory outcome in preterm infants.
Am J Obstet Gynecol
; 200(1): 100.e1-8, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19026401
11.
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Brain
; 131(Pt 11): 2841-50, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18819985
12.
[Abdominal pregnancy]. / Vatsaonteloraskaus on diagnostinen haaste.
Duodecim
; 125(22): 2448-51, 2009.
Artigo
em Fi
| MEDLINE | ID: mdl-20095116
13.
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
J Neuropathol Exp Neurol
; 67(8): 750-62, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18648327
14.
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
Epilepsia
; 49(6): 1038-45, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18294203
15.
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Brain
; 130(Pt 11): 3032-40, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17921179
16.
Expression and localization of SWAP-70 in human fetomaternal interface and placenta during tubal pregnancy and normal placentation.
J Histochem Cytochem
; 55(7): 701-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17371938
17.
Conventional renal cancer in a patient with fumarate hydratase mutation.
Hum Pathol
; 38(5): 793-6, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17270241
18.
Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.
J Neuropathol Exp Neurol
; 76(10): 848-853, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28922847
19.
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
Brain
; 128(Pt 8): 1861-9, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15857931
20.
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Cancer Res
; 62(16): 4554-7, 2002 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12183404