Search details
1.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Article
in English
| MEDLINE | ID: mdl-38522068
2.
Biliary Atresia Remnants Revisited: Myogenesis, Hepatic Duct-Like Structures, and Fate of Peribiliary Glands.
Pediatr Dev Pathol
; 26(3): 259-272, 2023.
Article
in English
| MEDLINE | ID: mdl-36843487
3.
Hepatic LDL receptor-related protein-1 deficiency alters mitochondrial dynamics through phosphatidylinositol 4,5-bisphosphate reduction.
J Biol Chem
; 296: 100370, 2021.
Article
in English
| MEDLINE | ID: mdl-33548224
4.
Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes.
Dig Dis Sci
; 65(4): 1239-1251, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31549332
5.
Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency.
Hepatology
; 67(4): 1531-1545, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29091294
6.
Association between Testicular Microlithiasis and Testicular Neoplasia: Large Multicenter Study in a Pediatric Population.
Radiology
; 285(2): 576-583, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28715257
7.
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.
J Pediatr Gastroenterol Nutr
; 65(3): 321-326, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28644367
8.
Infant Mortality, Cause of Death, and Vital Records Reporting in Ohio, United States.
Matern Child Health J
; 21(4): 727-733, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27456308
9.
Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease.
Ann Rheum Dis
; 74(1): 204-10, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-24064003
10.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Hepatology
; 70(3): 1066-1070, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30912852
11.
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Gastroenterology
; 144(5): 945-955.e6; quiz e14-5, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23415802
12.
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.
J Pediatr Gastroenterol Nutr
; 66(2): e57-e59, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28968290
13.
Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis.
J Pediatr Genet
; 12(3): 246-253, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37575649
14.
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development.
HGG Adv
; 3(3): 100115, 2022 Jul 14.
Article
in English
| MEDLINE | ID: mdl-35599850
15.
Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy.
Clin Gastroenterol Hepatol
; 9(4): 357-362.e2, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21238606
16.
Juvenile dermatomyositis: correlation of MRI at presentation with clinical outcome.
AJR Am J Roentgenol
; 197(1): W153-8, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21700978
17.
A welcome surprise: nodular fasciitis presenting as soft tissue sarcoma.
J Pediatr Hematol Oncol
; 33(4): 316-9, 2011 May.
Article
in English
| MEDLINE | ID: mdl-20975584
18.
Early Aberrant Angiogenesis Due to Elastic Fiber Fragmentation in Aortic Valve Disease.
J Cardiovasc Dev Dis
; 8(7)2021 Jun 25.
Article
in English
| MEDLINE | ID: mdl-34202041
19.
Hypoplasia of Extrahepatic Biliary Tree and Intrahepatic Cholangiolopathy in Cystic Fibrosis Imperfectly Mimic Biliary Atresia in 4 Infants With Cystic Fibrosis and Kasai Portoenterostomy.
Am J Surg Pathol
; 45(11): 1499-1508, 2021 11 01.
Article
in English
| MEDLINE | ID: mdl-34510112
20.
A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.
J Pediatr
; 157(1): 164-6, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20394946