Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 17

1.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D.

Clin Chem. 2016 Sep;62(9):1248-54. doi: 10.1373/clinchem.2016.256255. Epub 2016 Jul 20.

2.

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.

Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8.

3.

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G; Individualized Medicine Clinic Members.

Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018.

PMID:
26944241
4.

Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated?

Ruzkova K, Weingarten TN, Larson KJ, Friedhoff RJ, Gavrilov DK, Sprung J.

Paediatr Anaesth. 2015 Aug;25(8):807-817. doi: 10.1111/pan.12673. Epub 2015 May 5.

PMID:
25943188
5.

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S.

Mol Genet Metab. 2015 Jan;114(1):46-50. doi: 10.1016/j.ymgme.2014.11.013. Epub 2014 Nov 27.

PMID:
25481105
6.

A macro-enzyme cause of an isolated increase of alkaline phosphatase.

Cervinski MA, Lee HK, Martin IW, Gavrilov DK.

Clin Chim Acta. 2015 Feb 2;440:169-71. doi: 10.1016/j.cca.2014.11.017. Epub 2014 Nov 21.

PMID:
25463746
7.

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP.

Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.

8.

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4.

PMID:
20821052
9.

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D.

Clin Chem. 2010 Nov;56(11):1686-95. doi: 10.1373/clinchem.2010.148957. Epub 2010 Aug 31.

10.

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK.

J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14.

PMID:
20394947
11.

Differential SMN2 expression associated with SMA severity.

Gavrilov DK, Shi X, Das K, Gilliam TC, Wang CH.

Nat Genet. 1998 Nov;20(3):230-1. No abstract available.

PMID:
9806538
12.

Frequency analysis of HLA-DQA1 and HLA-DQB1 gene alleles and susceptibility to type 1 diabetes mellitus in Russian patients.

Gavrilov DK, Kuraeva TL, Dedov II, Sergeev AS, Nosikov VV.

Acta Diabetol. 1994 Jun;31(2):82-6.

PMID:
7949227
13.

[Analysis of the distribution of alleles of four hypervariable tandem repeats among unrelated Russian individuals living in Moscow, using the polymerase chain reaction].

Chistiakov DA, Gavrilov DK, Ovchinnikov IV, Nosikov VV.

Mol Biol (Mosk). 1993 Nov-Dec;27(6):1304-14. Russian.

PMID:
7904327
14.

[Use of the polymerase chain reaction for typing allelic variants of the human HLA-DQA1 by hybridization with oligonucleotide probes, specific for specific alleles].

Ovchinnikov IV, Gavrilov DK, Nosikov VV, Debabov VG.

Mol Biol (Mosk). 1991 Sep-Oct;25(5):1266-72. Russian.

PMID:
1753955
16.

The uses of synthetic oligonucleotide primers for prenatal diagnosis of sex in chorionic villa via the polymerase chain reaction.

Gavrilov DK, Ovchinnikov IV, Chelnokova MV, Nosikov VV.

Nucleic Acids Symp Ser. 1991;(24):257. No abstract available.

PMID:
1841323
17.

The use of synthetic oligonucleotide primers for amplification of a variable number of tandem repeats loci for paternity testing.

Nosikov VV, Ovchinnikov IV, Gavrilov DK, Chelnokova MV.

Nucleic Acids Symp Ser. 1991;(24):219. No abstract available.

PMID:
1841290

Supplemental Content

Loading ...
Support Center