Coughlin, Curtis R: search on Z-Library

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1

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Coughlin, Curtis R., Swanson, Michael A., Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg,

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

2

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Coughlin, Curtis R, Swanson, Michael A, Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, A

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

3

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Ormond, Kelly E., Hallquist, Miranda L. G., Buchanan, Adam H., Dondanville, Danielle, Cho, Mildred K., Smith, Maureen, Roche, Myra, Brothers, Kyle B., Coughlin, Curtis R., Hercher, Laura, Hudgins, Lou

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 466 KB

english, 2018

4

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Coughlin, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christoph

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 474 KB

english, 2015

5

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry

Can Ficicioglu, Curtis R. Coughlin II, Michael J. Bennett, Marc Yudkoff

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 82 KB

english, 2010

6

Mutations in NDUFB10 result in isolated complex I deficiency due to incomplete assembly of complex I holoenzyme

Friederich, Marisa W., Coughlin, Curtis R., O'Rourke, Courtney, Lovell, Mark A., Gowan, Katherine, Van Hove, Johan L.K.

Journal:

Year:

2015

Language:

english

File:

PDF, 45 KB

english, 2015

7

Clinical and biochemical characterization of four patients with mutations in ECHS1

Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R.,

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

8

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.42 MB

english, 2019

9

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Bjoraker, Kendra J., Swanson, Michael A., Coughlin, Curtis R., Christodoulou, John, Tan, Ee S., Fergeson, Mark, Dyack, Sarah, Ahmad, Ayesha, Friederich, Marisa W., Spector, Elaine B., Creadon-Swindell

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 226 KB

english, 2016

10

Low bone mineral density is a common finding in patients with homocystinuria

Weber, David R., Coughlin, Curtis, Brodsky, Jill L., Lindstrom, Kristin, Ficicioglu, Can, Kaplan, Paige, Freehauf, Cynthia L., Levine, Michael A.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 227 KB

english, 2016

11

X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Scalais, Emmanuel, Osterheld, Elise, Weitzel, Christiane, De Meirleir, Linda, Mataigne, Frederic, Martens, Geert, Shaikh, Tamim H., Coughlin, Curtis R., Yu, Hung-Chun, Swanson, Michael, Friederich, Ma

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 2.10 MB

english, 2017

12

Mild orotic aciduria inUMPSheterozygotes: a metabolic finding without clinical consequences

Wortmann, Saskia B., Chen, Margaret A., Colombo, Roberto, Pontoglio, Alessandro, Alhaddad, Bader, Botto, Lorenzo D., Yuzyuk, Tatiana, Coughlin, Curtis R., Descartes, Maria, Grűnewald, Stephanie, Maran

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 1.25 MB

english, 2017

13

Genetic Testing

Faucett, W. Andrew, Peay, Holly, Coughlin, Curtis R.

Journal:

Medical Clinics of North America

Year:

2019

Language:

english

File:

PDF, 506 KB

english, 2019

14

Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency

Nicholas V. Stence, Curtis R. Coughlin II, Laura Z. Fenton…

Journal:

Pediatric Radiology

Year:

2013

Language:

english

File:

PDF, 236 KB

english, 2013

15

Pyridoxine-Dependent Epilepsy: an expanding clinical spectrum

van Karnebeek, Clara D.M., Tiebout, Sylvia A., Niermeijer, Jikkemien, Poll-The, Bwee Tien, Ghani, Aisha, Coughlin, Curtis R., Van Hove, Johan L.K., Richter, Jost Wigand, Christen, Hans Juergen, Gallag

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 877 KB

english, 2016

16

Abnormal expression of GABA A receptor subunits and hypomotility upon loss of gabra1 in zebrafish

Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.

Journal:

Year:

2020

File:

PDF, 2.41 MB

2020

17

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt

Beard, Lauren, Wymore, Erica, Fenton, Laura, Coughlin, Curtis R., Weisfeld-Adams, James D.

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 456 KB

english, 2017

18

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suo

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 737 KB

english, 2013

19

Bone marrow mechanotransduction in porcine explants alters kinase activation and enhances trabecular bone formation in the absence of osteocyte signaling

Curtis, Kimberly J., Coughlin, Thomas R., Mason, Devon E., Boerckel, Joel D., Niebur, Glen L.

Journal:

Year:

2017

Language:

english

File:

PDF, 881 KB

english, 2017

20

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

File:

PDF, 1.42 MB

2019

21

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 1.46 MB

english, 2018

22

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Demaerel, Wolfram, Mostovoy, Yulia, Yilmaz, Feyza, Vervoort, Lisanne, Pastor, Steven, Hestand, Matthew S., Swillen, Ann, Vergaelen, Elfi, Geiger, Elizabeth A., Coughlin, Curtis R., Chow, Stephen K., M

Journal:

Genome Research

Year:

2019

Language:

english

File:

PDF, 6.20 MB

english, 2019

23

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Bernstein, Laurie, Coughlin, Curtis R., Drumm, Morgan, Yannicelli, Steven, Rohr, Fran

Journal:

Year:

2020

File:

PDF, 636 KB

2020

24

Genotype–phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

Coughlin, Curtis R., Ficicioglu, Can

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 103 KB

english, 2010

25

Consensus guidelines for the diagnosis and management of pyridoxineâdependent epilepsy due to Î±âaminoadipic semialdehyde dehydrogenase deficiency

Coughlin, Curtis R., Tseng, Laura A., Abdenur, Jose E., Ashmore, Catherine, Boemer, FranÃ§ois, Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Clayton, Peter T., Das, Anibh, Dekker, Hanka, Evangeliou,

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 2.05 MB

2020

26

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

Matthew G. Sampson, Curtis R. Coughlin II, Paige Kaplan, Laura K. Conlin, Kevin E.C. Meyers, Elaine H. Zackai, Nancy B. Spinner, Lawrence Copelovitch

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 144 KB

english, 2010

27

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin II, Ian D. Krantz, Eric S. Schmitt, Shulin Zhang, Lee-Jun C. Wong, Douglas S. Kerr, Jaya Ganesh

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

28

Shear Stress in Bone Marrow has a Dose Dependent Effect on cFos Gene Expression in In Situ Culture

Curtis, Kimberly J., Coughlin, Thomas R., Varsanik, Mary A., Niebur, Glen L.

Journal:

Cellular and Molecular Bioengineering

Year:

2019

Language:

english

File:

PDF, 945 KB

english, 2019

29

Faster and easier radiochemical purity testing for [125I]sodium iothalamate

Curtis R. Bush, Joanne E. Coughlin, Thomas J. Herold, Joseph C. Hung

Journal:

Nuclear Medicine and Biology

Year:

1997

Language:

english

File:

PDF, 395 KB

english, 1997

30

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Curtis R Coughlin II,Gunter H Scharer,Tamim H Shaikh

Journal:

Genome Medicine

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

31

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Chatfield, Kathryn C., Coughlin, Curtis R., Friederich, Marisa W., Gallagher, Renata C., Hesselberth, Jay R., Lovell, Mark A., Ofman, Rob, Swanson, Michael A., Thomas, Janet A., Wanders, Ronald J.A.,

Journal:

Year:

2015

Language:

english

File:

PDF, 2.70 MB

english, 2015

32

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Swanson, Michael A., Coughlin, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon-Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Jul

Journal:

Annals of Neurology

Year:

2015

Language:

english

File:

PDF, 750 KB

english, 2015

33

Brain imaging in classic nonketotic hyperglycinemia: quantitative analysis and relation to phenotype

Stence, Nicholas V., Fenton, Laura Z., Levek, Claire, Tong, Suhong, Coughlin II, Curtis R., Hennermann, Julia B., Wortmann, Saskia B., Van Hove, Johan L.K.

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.98 MB

english, 2019

34

Corrigendum: Swanson MA, Coughlin CRJr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606-618.

Swanson, Michael A., Coughlin, Curtis R., Van Hove, Johan L. K.

Journal:

Annals of Neurology

Year:

2016

Language:

english

File:

PDF, 37 KB

english, 2016

35

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

Friederich, Marisa W., Erdogan, Alican J., Coughlin, Curtis R., Elos, Mihret T., Jiang, Hua, O’Rourke, Courtney P., Lovell, Mark A., Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C., Chick, Wal

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 2.12 MB

english, 2016

36

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

Clara D.M. van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin II, Anibh M. Das, Sidney M. Gospe Jr., Cornelis Jakobs, Johanna H. van der Le

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

37

Penicillamine Therapy for Pediatric Cystinuria: Experience From a Cohort of American Children

DeBerardinis, Ralph J., Coughlin, Curtis R., Kaplan, Paige

Journal:

The Journal of Urology

Year:

2008

Language:

english

File:

PDF, 81 KB

english, 2008

38

The CXCL5/CXCR2 axis is sufficient to promote breast cancer colonization during bone metastasis

Romero-Moreno, Ricardo, Curtis, Kimberly J., Coughlin, Thomas R., Cristina Miranda-Vergara, Maria, Dutta, Shourik, Natarajan, Aishwarya, Facchine, Beth A., Jackson, Kristen M., Nystrom, Lukas, Li, Jun

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 2.20 MB

english, 2019

39

Genetic Testing

Faucett, W. Andrew, Peay, Holly, Coughlin, Curtis R.

Journal:

Medical Clinics of North America

Year:

2019

File:

PDF, 506 KB

2019

40

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion, suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

Yu, Hung-Chun, Coughlin, Curtis, Geiger, Elizabeth, Salvador, Blake, Elias, Ellen, Cavanaugh, Jean, Chatfield, Kathryn, Miyamoto, Shelley, Shaikh, Tamim H.

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 3.92 MB

english, 2016

41

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Berry, Susan A., Coughlin, Curtis R., McCandless, Shawn, McCarter, Robert, Seminara, Jennifer, Yudkoff, Mark, LeMons, Cynthia

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 489 KB

2019

42

Electronic clinical laboratory test results data tables: lessons from Mini-Sentinel

Raebel, Marsha A., Haynes, Kevin, Woodworth, Tiffany S., Saylor, Gwyn, Cavagnaro, Elizabeth, Coughlin, Kara O., Curtis, Lesley H., Weiner, Mark G., Archdeacon, Patrick, Brown, Jeffrey S.

Journal:

Pharmacoepidemiology and Drug Safety

Year:

2014

Language:

english

File:

PDF, 223 KB

english, 2014

43

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

Coughlin, Curtis R., van Karnebeek, Clara D.M., Al-Hertani, Walla, Shuen, Andrew Y., Jaggumantri, Sravan, Jack, Rhona M., Gaughan, Sommer, Burns, Casey, Mirsky, David M., Gallagher, Renata C., Van Hov

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.10 MB

english, 2015

44

Comment on Late-Onset Nonketotic Hyperglycinemia with a Heterozygous Novel Point Mutation of the GLDC Gene

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine B., Kronquist, Kathryn E., Van Hove, Johan L.

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 624 KB

english, 2017

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