Detalhe da pesquisa
1.
The T-locus - inspiration and distraction?
Bioessays
; : e2400021, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528317
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2.
The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man.
Cerebellum
; 22(1): 102-119, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040097
3.
The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation.
Hum Mol Genet
; 27(R2): R119-R129, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718288
4.
A new kind of embryonic field?
Dev Biol
; 499: 22-23, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149123
5.
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.
Hum Mol Genet
; 26(12): 2277-2289, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379564
6.
Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family.
Clin Genet
; 96(5): 478-482, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403174
7.
Pediatric Cytochrome P450 Activity Alterations in Nonalcoholic Steatohepatitis.
Drug Metab Dispos
; 45(12): 1317-1325, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28986475
8.
A Mentor's perspective: It's not all about academic research-other careers for Ph. D.s in developmental biology and biological sciences.
Dev Biol
; 459(1): 2-4, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639335
9.
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Am J Hum Genet
; 90(3): 502-10, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22365152
10.
Altered regulation of hepatic efflux transporters disrupts acetaminophen disposition in pediatric nonalcoholic steatohepatitis.
Drug Metab Dispos
; 43(6): 829-35, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25788542
11.
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Hum Mol Genet
; 21(4): 730-50, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22048958
12.
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Am J Hum Genet
; 89(1): 44-55, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21703590
13.
Dysregulation of testicular cholesterol metabolism following spontaneous mutation of the niemann-pick c1 gene in mice.
Biol Reprod
; 91(2): 42, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25009206
14.
A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.
Am J Med Genet A
; 164A(11): 2802-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25252123
15.
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
Nat Genet
; 37(10): 1035-7, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16155570
16.
A hopeful therapy for Niemann-Pick C diseases.
Lancet
; 390(10104): 1720-1721, 2017 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803711
17.
(1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease.
J Magn Reson Imaging
; 37(5): 1195-201, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165972
18.
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Epilepsia
; 54(7): 1270-81, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23647072
19.
Acute cholangitis following mRNA COVID-19 vaccine booster in a patient receiving an anti-amyloid antibody for Alzheimer's disease: A case report.
SAGE Open Med Case Rep
; 11: 2050313X231194507, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37654545
20.
Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).
J Appl Genet
; 64(1): 141-144, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175752