Shchelochkov, Oleg: search on Z-Library

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1

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

Oleg Shchelochkov, Lee-Jun Wong, Aziz Shaibani, Marwan Shinawi

Journal:

Year:

2009

Language:

english

File:

PDF, 504 KB

english, 2009

2

Requirement of argininosuccinate lyase for systemic nitric oxide production

Erez, Ayelet, Nagamani, Sandesh C S, Shchelochkov, Oleg A, Premkumar, Muralidhar H, Campeau, Philippe M, Chen, Yuqing, Garg, Harsha K, Li, Li, Mian, Asad, Bertin, Terry K, Black, Jennifer O, Zeng, Hen

Journal:

Nature Medicine

Year:

2011

Language:

english

File:

PDF, 991 KB

english, 2011

3

114 Expanding clinical spectrum of RRM2B mutations to include MNGIE

Lee-Jun Wong, Aziz Shaibani, Oleg A. Shchelochkov, Shulin Zhang, Panagiotis Katsonis, Olivier Lichtarge, Marwan Shinawi

Journal:

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

4

Clinical and environmental influences on metabolic biomarkers collected for newborn screening

Ryckman, Kelli K., Berberich, Stanton L., Shchelochkov, Oleg A., Cook, Daniel E., Murray, Jeffrey C.

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 316 KB

english, 2013

5

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil Hanchard, Oleg A. Shchelochkov, Ellen Brundage, Eric Schmitt, Fangyuan Li, Lee-Jun Wong, Fernando Scaglia⁎

Journal:

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

6

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Oleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, Sandra Peacock, Svetlana A Yatsenko, Chester W Brown, Ping Fang, Pawel Stankiewicz, Sau Wai Cheung

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 2.43 MB

english, 2008

7

3-Methylglutaconic aciduria type IV due to novel mutation in TMEM70

Oleg A. Shchelochkov⁎, Fangyuan Li, Jing Wang, Jeffrey A. Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia

Journal:

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

8

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension

Manjunath Nimmakayalu, Heather Major, Val Sheffield, Donald H. Solomon, Richard J. Smith, Shivanand R. Patil, Oleg A. Shchelochkov

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 288 KB

english, 2011

9

Chronic kidney disease in propionic acidemia

Shchelochkov, Oleg A., Manoli, Irini, Sloan, Jennifer L., Ferry, Susan, Pass, Alexandra, Van Ryzin, Carol, Myles, Jennifer, Schoenfeld, Megan, McGuire, Peter, Rosing, Douglas R., Levin, Mark D., Kopp,

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 446 KB

english, 2019

10

Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?

Nicola Brunetti-Pierri, Ayelet Erez, Oleg Shchelochkov, William Craigen, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 138 KB

english, 2009

11

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

Nimmakayalu, Manjunath, Horton, V. Kim, Darbro, Ben, Patil, Shivanand R., Alsayouf, Hamza, Keppler-Noreuil, Kim, Shchelochkov, Oleg A.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 844 KB

english, 2013

12

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency

James M. Wilson, Oleg A. Shchelochkov, Renata C. Gallagher, Mark L. Batshaw

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 150 KB

english, 2012

13

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

Sandesh C.S. Nagamani, Oleg A. Shchelochkov, Mary A. Mullins, Susan Carter, Brendan C. Lanpher, Qin Sun, Soledad Kleppe, Ayelet Erez, E. O'Brian Smith, Juan C. Marini, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 476 KB

english, 2012

14

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil A. Hanchard, Oleg A. Shchelochkov, Angshumoy Roy, Joanna Wiszniewska, Jing Wang, Edwina J. Popek, Saul Karpen, Lee-Jun C. Wong, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.21 MB

english, 2011

15

Hyperammonemic syndrome after Roux-en-Y gastric bypass

Fenves, Andrew Z., Shchelochkov, Oleg A., Mehta, Ankit

Journal:

Year:

2015

Language:

english

File:

PDF, 120 KB

english, 2015

16

Signaling Pathways in Human Skeletal Dysplasias

Baldridge, Dustin, Shchelochkov, Oleg, Kelley,, Brian, Lee, Brendan

Journal:

Annual Review of Genomics and Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.17 MB

english, 2010

17

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

Lindsley, Andrew W., Saal, Howard M., Burrow, Thomas A., Hopkin, Robert J., Shchelochkov, Oleg, Khandelwal, Pooja, Xie, Changchun, Bleesing, Jack, Filipovich, Lisa, Risma, Kimberly, Assa'ad, Amal H.,

Journal:

Journal of Allergy and Clinical Immunology

Year:

2016

Language:

english

File:

PDF, 3.23 MB

english, 2016

18

Response to Cunningham et al.

Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 79 KB

english, 2016

19

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, Marwan Shinawi

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 905 KB

english, 2011

20

Increased LIS1 expression affects human and mouse brain development

Bi, Weimin, Sapir, Tamar, Shchelochkov, Oleg A, Zhang, Feng, Withers, Marjorie A, Hunter, Jill V, Levy, Talia, Shinder, Vera, Peiffer, Daniel A, Gunderson, Kevin L

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 1.25 MB

english, 2009

21

Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

Sandesh C.S. Nagamani, Philippe M. Campeau, Oleg A. Shchelochkov, Muralidhar H. Premkumar, Kilian Guse, Nicola Brunetti-Pierri, Yuqing Chen, Qin Sun, Yaoping Tang, Donna Palmer, Anilkumar K. Reddy, Li

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

22

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

Kim, Bum Jun, Zaveri, Hitisha P., Shchelochkov, Oleg A., Yu, Zhiyin, Hernández-García, Andrés, Seymour, Michelle L., Oghalai, John S., Pereira, Fred A., Stockton, David W., Justice, Monica J., Lee, Br

Journal:

Year:

2013

Language:

english

File:

PDF, 5.31 MB

english, 2013

23

Genomic and clinical characteristics of microduplications in chromosome 17

Oleg A. Shchelochkov, S.W. Cheung, J.R. Lupski

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 242 KB

english, 2010

24

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

Oleg A. Shchelochkov, Fang-Yuan Li, Michael T. Geraghty, Renata C. Gallagher, Johan L. Van Hove, Uta Lichter-Konecki, Paul M. Fernhoff, Sara Copeland, Tyler Reimschisel, Stephen Cederbaum, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 1.43 MB

english, 2009

25

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Magoulas, Pilar L., Shchelochkov, Oleg A., Bainbridge, Matthew N., Ben-Shachar, Shay, Yatsenko, Svetlana, Potocki, Lorraine, Lewis, Richard Alan, Searby, Charles, Marcogliese, Andrea N., Elghetany, M.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

26

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Johannes Häberle, Oleg A. Shchelochkov, Jing Wang, Panagiotis Katsonis, Lynn Hall, Sara Reiss, Angela Eeds, Alecia Willis, Meeta Yadav, Samantha Summar, , the Urea Cycle Disorders Consortium,, Olivier

Journal:

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

27

Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia

Panzer, Karin, Ekhaguere, Osayame A., Darbro, Benjamin, Cook, Jennifer, Shchelochkov, Oleg A.

Journal:

Journal of Clinical Research in Pediatric Endocrinology

Year:

2017

Language:

english

File:

PDF, 316 KB

english, 2017

28

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

Andrew B. Cyr, Manjunath Nimmakayalu, Susannah Q. Longmuir, Shivanand R. Patil, Kim M. Keppler-Noreuil, Oleg A. Shchelochkov

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 377 KB

english, 2011

29

Assessment of barriers to drug adherence in the treatment of urea cycle disorders in North America

Shchelochkov, Oleg A., Lee, Brendan H., Scharschmidt, Bruce F., Dickinson, Klara A., Herberich, Ellen, Hawkins, Scott, Smith, Jasmin, Le Mons, Cynthia

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

30

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung-Hae Lee Kang

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 334 KB

english, 2009

31

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

Schaaf, Christian P, Boone, Philip M, Sampath, Srirangan, Williams, Charles, Bader, Patricia I, Mueller, Jennifer M, Shchelochkov, Oleg A, Brown, Chester W, Crawford, Heather P, Phalen, James A, Tarta

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 378 KB

english, 2012

32

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Oleg A. Shchelochkov, Ankita Patel, George M. Weissenberger, A. Craig Chinault, Joanna Wiszniewska, Priscilla H. Fernandes, Christine Eng, Mary K. Kukolich, V. Reid Sutton

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 199 KB

english, 2008

33

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

Nimmakayalu, Manjunath, Noble, Nathan, Horton, V. Kim, Willing, Marcia, Copeland, Sara, Sheffield, Val, Nagy, Peter L., Wassink, Tom, Patil, Shivanand, Shchelochkov, Oleg A.

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1005 KB

english, 2012

34

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3

Beck, Tyler F., Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Hernández-García, Andrés, Zaveri, Hitisha P., Bishop, Colin, Overbeek, Paul A., Stockton, David W., Justice, Monica J., Scott, Daryl A.

Journal:

Year:

2013

Language:

english

File:

PDF, 6.40 MB

english, 2013

35

Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism

Ayelet Erez, Oleg A. Shchelochkov, Sharon E. Plon, Fernando Scaglia, Brendan Lee

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 871 KB

english, 2011

36

The influence of maternal disease on metabolites measured as part of newborn screening

Ryckman, Kelli K., Shchelochkov, Oleg A., Cook, Daniel E., Berberich, Stanton L., Copeland, Sara, Dagle, John M., Murray, Jeffrey C.

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2013

Language:

english

File:

PDF, 181 KB

english, 2013

37

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects

Connor, Cody J., Shchelochkov, Oleg A., Ciliberto, Heather

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 766 KB

english, 2015

38

Genetic associations with neonatal thyroid-stimulating hormone levels

Alul, Farah Y., Shchelochkov, Oleg A., Berberich, Stanton L., Murray, Jeffrey C., Ryckman, Kelli K.

Journal:

Pediatric Research

Year:

2013

Language:

english

File:

PDF, 454 KB

english, 2013

39

Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns

Ryckman, Kelli K., Cook, Daniel E., Berberich, Stanton L., Shchelochkov, Oleg A., Berends, Susan K., Busch, Tamara, Dagle, John M., Murray, Jeffrey C.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2012

Language:

english

File:

PDF, 341 KB

english, 2012

40

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

Shaibani, Aziz, Shchelochkov, Oleg A., Zhang, Shulin, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun, Shinawi, Marwan

Journal:

Archives of Neurology

Year:

2009

Language:

english

File:

PDF, 303 KB

english, 2009

41

Association of amino acids with common complications of prematurity

Ryckman, Kelli K., Dagle, John M., Shchelochkov, Oleg A., Ehinger, Noah, Poole, Stanley D., Berberich, Stanton L., Reese, Jeff, Murray, Jeffrey C.

Journal:

Pediatric Research

Year:

2013

Language:

english

File:

PDF, 513 KB

english, 2013

42

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

Oleg A. Shchelochkov, Fang-Yuan Li, Jing Wang, Hongli Zhan, Jeffrey A. Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 184 KB

english, 2010

43

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

Kho, Jordan, Tian, Xiaoyu, Wong, Wing-Tak, Bertin, Terry, Jiang, Ming-Ming, Chen, Shan, Jin, Zixue, Shchelochkov, Oleg A., Burrage, Lindsay C., Reddy, Anilkumar K., Jiang, Hong, Abo-Zahrah, Reem, Ma,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.00 MB

english, 2018

44

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control

Brendan Lee, William Rhead, George A. Diaz, Bruce F. Scharschmidt, Asad Mian, Oleg Shchelochkov, J.F. Marier, Martin Beliveau, Joseph Mauney, Klara Dickinson, Antonia Martinez, Sharron Gargosky, Masou

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 296 KB

english, 2010

45

Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives

Shchelochkov, Oleg A., Dickinson, Klara, Scharschmidt, Bruce F., Lee, Brendan, Marino, Miguel, Le Mons, Cynthia

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 659 KB

english, 2016

46

Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis

Lakshmi Venkateswaran, Fernando Scaglia, Valerie McLin, Paula Hertel, Oleg A. Shchelochkov, Saul Karpen, Donald Mahoney Jr, Donald L. Yee

Journal:

Pediatric Blood & Cancer

Year:

2009

Language:

english

File:

PDF, 104 KB

english, 2009

47

Molecular characterization of CPS1 deletions by array CGH

Jing Wang, Oleg A. Shchelochkov, Hongli Zhan, Fangyuan Li, Li-Chieh Chen, Ellen K. Brundage, Amber N. Pursley, Eric S. Schmitt, Johannes Häberle, Lee-Jun C. Wong

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 471 KB

english, 2011

48

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 652 KB

english, 2015

49

Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices

Lea, Dawn, Shchelochkov, Oleg, Cleary, Jennifer, Koehly, Laura M.

Journal:

Journal of Parenteral and Enteral Nutrition

Year:

2018

Language:

english

File:

PDF, 400 KB

english, 2018

50

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Beck, Tyler F, Veenma, Danielle, Shchelochkov, Oleg A, Yu, Zhiyin, Kim, Bum Jun, Zaveri, Hitisha P, van Bever, Yolande, Choi, Sunju, Douben, Hannie, Bertin, Terry K, Patel, Pragna I, Lee, Brendan, Tib

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 60 KB

2020

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