Detalhe da pesquisa
1.
Mortality in pediatric hydrocephalus.
Dev Med Child Neurol
; 64(1): 112-117, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34268734
2.
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
Genet Med
; 21(2): 471-476, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915381
3.
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Am J Med Genet A
; 179(9): 1783-1790, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294511
4.
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Am J Med Genet C Semin Med Genet
; 178(4): 432-439, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580482
5.
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Genet Med
; 20(2): 223-233, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771248
6.
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
Am J Med Genet A
; 176(3): 676-681, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29341397
7.
Mortality in Joubert syndrome.
Am J Med Genet A
; 173(5): 1237-1242, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371402
8.
Prenatal presentation of pyruvate dehydrogenase complex deficiency.
Pediatr Radiol
; 46(9): 1354-7, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27026023
9.
Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
Neurosurg Focus
; 41(5): E5, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798978
10.
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Epilepsia
; 56(3): 422-30, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25656163
11.
Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
Mov Disord
; 28(14): 2019-23, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105968
12.
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Brain
; 135(Pt 5): 1370-86, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451504
13.
Seizures in juvenile Huntington's disease: frequency and characterization in a multicenter cohort.
Mov Disord
; 27(14): 1797-800, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23124580
14.
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Am J Med Genet A
; 158A(10): 2393-406, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22965664
15.
Epileptic spasms as the presenting seizure type in a patient with a new "O" of TORCH, congenital Zika virus infection.
Epilepsy Behav Case Rep
; 11: 1-3, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30456170
16.
Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus.
Pediatr Neurol
; 59: 18-22, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27050777
17.
Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.
J Child Neurol
; 31(3): 309-20, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26184484
18.
Maternal and infant factors associated with infancy-onset hydrocephalus in Washington State.
Pediatr Neurol
; 52(3): 320-5, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542767
19.
Infantile hydrocephalus: a review of epidemiology, classification and causes.
Eur J Med Genet
; 57(8): 359-68, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24932902
20.
Ligand substitution, pH dependent deoxygenation, and linkage isomerization reactions of the 2,2'-bipyridinetetranitroruthenate dianion.
Inorg Chem
; 41(15): 3820-9, 2002 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-12132905