Detalhe da pesquisa
1.
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
PLoS Genet
; 18(12): e1010504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36480544
2.
Dominant Missense Variants in SREBF2 are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities.
Genet Med
; : 101174, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38847193
3.
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(4): 686-697, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822849
4.
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Genet Med
; 19(3): 297-305, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513191
5.
Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.
Neurobiol Dis
; 91: 69-82, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26921468
6.
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Am J Med Genet A
; 167(6): 1309-14, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846959
7.
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
PLoS Genet
; 7(9): e1002224, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21912524
8.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am J Hum Genet
; 87(6): 905-14, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129721
9.
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Development
; 137(15): 2587-96, 2010 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20627962
10.
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.
Hepatology
; 56(1): 49-56, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22318926
11.
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.
JIMD Rep
; 64(3): 233-237, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37151362
12.
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Am J Med Genet C Semin Med Genet
; 160C(4): 301-21, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23042573
13.
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
Mol Genet Metab
; 105(3): 416-20, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22197596
14.
Mental health problems, legal involvement, and smoking during pregnancy.
Subst Use Misuse
; 47(6): 718-25, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22409667
15.
ATRX loss promotes immunosuppressive mechanisms in IDH1 mutant glioma.
Neuro Oncol
; 24(6): 888-900, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951647
16.
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
Am J Med Genet A
; 155A(7): 1597-604, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671375
17.
Academics and substance use among Latino adolescents: results from a national study.
J Ethn Subst Abuse
; 10(2): 147-61, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21678147
18.
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.
Transl Psychiatry
; 11(1): 471, 2021 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504056
19.
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
J Inherit Metab Dis
; 33(4): 437-43, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20521169
20.
A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.
Bone
; 141: 115601, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827848