Detalhe da pesquisa
1.
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Crit Rev Clin Lab Sci
; : 1-30, 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38497103
2.
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Nature
; 513(7518): 409-13, 2014 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25230663
3.
Stage Dependence, Cell-Origin Independence, and Prognostic Capacity of Serum Glycan Fucosylation, ß1-4 Branching, ß1-6 Branching, and α2-6 Sialylation in Cancer.
J Proteome Res
; 17(1): 543-558, 2018 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29129073
4.
Predictors of 25-Hydroxyvitamin D Concentration Measured at Multiple Time Points in a Multiethnic Population.
Am J Epidemiol
; 186(10): 1180-1193, 2017 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549072
5.
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
BMC Med Genet
; 18(1): 83, 2017 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28774260
6.
Variance Formulae for Correlation Measures of Linkage Disequilibrium.
Hum Hered
; 82(1-2): 75-85, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881353
7.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Hum Mutat
; 37(8): 737-44, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120253
8.
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.
Subcell Biochem
; 76: 343-61, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26219719
9.
50 Years Ago in TheJournal ofPediatrics: Familial Hyperphosphatasia with Mental Retardation, Seizures, and Neurologic Deficits.
J Pediatr
; 222: 97, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32586537
10.
The causal effect of vitamin D binding protein (DBP) levels on calcemic and cardiometabolic diseases: a Mendelian randomization study.
PLoS Med
; 11(10): e1001751, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25350643
11.
Effect of vitamin D-binding protein genotype on the development of asthma in children.
Ann Allergy Asthma Immunol
; 112(6): 519-24, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24745702
12.
Urinary Vitamin D Binding Protein: A Marker of Kidney Tubular Dysfunction in Patients at Risk for Type 2 Diabetes.
J Endocr Soc
; 8(3): bvae014, 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352963
13.
Common variants of the vitamin D binding protein gene and adverse health outcomes.
Crit Rev Clin Lab Sci
; 50(1): 1-22, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23427793
14.
Genotype-based association analysis using discordant pairs: a penetrance odds ratio approach.
Ann Hum Genet
; 77(2): 137-46, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23362881
15.
Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood.
J Steroid Biochem Mol Biol
; 233: 106369, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490983
16.
Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
BMC Med Genet
; 18(1): 99, 2017 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28903740
17.
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Am J Med Genet A
; 158A(3): 553-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22315194
18.
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Eur J Endocrinol
; 186(3): 351-366, 2022 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038313
19.
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.
Hum Mutat
; 37(7): 621, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27300081
20.
Mild infantile hypercalcemia: diagnostic tests and outcomes.
J Pediatr
; 159(2): 215-21.e1, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21414629