McCandless, Shawn: search on Z-Library

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1

Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: Overlap with Coffin-Lowry Syndrome

Shawn E. McCandless, Stuart Schwartz, Stuart Morrison, Krishnaiah Garlapati, Nathaniel H. Robin

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 280 KB

english, 2000

2

Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases

Peter W. Stacpoole, Ton.J. deGrauw, Annette S. Feigenbaum, Charles Hoppel, Douglas S. Kerr, Shawn E. McCandless, Michael V. Miles, Brian H. Robinson, Peter H. Tang

Journal:

Year:

2012

Language:

english

File:

PDF, 251 KB

english, 2012

3

Corrigendum to ‘Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q10 in Children with Primary Mitochondrial Diseases’ [Mitochondrion 12/6 (2012) 623–629]

Stacpoole, Peter W., deGrauw, Ton J., Feigenbaum, Annette S., Hoppel, Charles, Kerr, Douglas S., McCandless, Shawn E., Miles, Michael V., Robinson, Brian H., Tang, Peter H.

Journal:

Year:

2013

Language:

english

File:

PDF, 145 KB

english, 2013

4

Inborn Errors of Metabolism with Acidosis

Schillaci, Lori-Anne P., DeBrosse, Suzanne D., McCandless, Shawn E.

Journal:

Pediatric Clinics of North America

Year:

2017

Language:

english

File:

PDF, 931 KB

english, 2017

5

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

Brage Storstein Andresen, Steve F. Dobrowolski, Linda O'Reilly, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas, Donald H. Chace, Paul En

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 859 KB

english, 2001

6

Severe oculocerebrocutaneous (Delleman) syndrome: Overlap with Goldenhar anomaly

McCandless, Shawn E., Robin, Nathaniel H.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 162 KB

english, 1998

7

High prevalence of overweight and obesity in females with phenylketonuria

Lindsay C. Burrage, Judy McConnell, Rebecca Haesler, Mary Ann O'Riordan, V. Reid Sutton, Douglas S. Kerr, Shawn E. McCandless

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

8

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

Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 726 KB

english, 2014

9

Orphan drugs in development for urea cycle disorders: current perspectives

Haberle, Johannes, McCandless, Shawn

Journal:

Orphan Drugs Research and Reviews

Year:

2014

Language:

english

File:

PDF, 395 KB

english, 2014

10

Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia

McCandless, Shawn E.

Journal:

Year:

2019

Language:

english

File:

PDF, 971 KB

english, 2019

11

The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital

Shawn E. McCandless, Jeanne W. Brunger, Suzanne B. Cassidy

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 220 KB

english, 2004

12

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

S Harvey Mudd, Nancy Braverman, Martin Pomper, Kamer Tezcan, Jonathan Kronick, Parul Jayakar, Cheryl Garganta, Mary G Ampola, Harvey L Levy, Shawn E McCandless, Hobart Wiltse, Sally P Stabler, Robert

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 300 KB

english, 2003

13

Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

Berry, Susan A., Lichter-Konecki, Uta, Diaz, George A., McCandless, Shawn E., Rhead, William, Smith, Wendy, LeMons, Cynthia, Nagamani, Sandesh C.S., Coakley, Dion F., Mokhtarani, Masoud, Scharschmidt,

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 959 KB

english, 2014

14

Sequencing from dried blood spots in infants with “false positive” newborn screen for MCAD deficiency

Shawn E. McCandless, Ram Chandrasekar, Sharon Linard, Sandra Kikano, Lorrie Rice

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 224 KB

english, 2013

15

Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best-worst scaling

Tsai, Jui-Hua, Scheimann, Ann O., McCandless, Shawn E., Strong, Theresa V., Bridges, John F.P.

Journal:

Journal of Medical Economics

Year:

2018

Language:

english

File:

PDF, 966 KB

english, 2018

16

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

Linda O'Reilly, Peter Bross, Thomas J. Corydon, Simon E. Olpin, Jakob Hansen, John M. Kenney, Shawn E. McCandless, Dianne M. Frazier, Vibeke Winter, Niels Gregersen, Paul C Engel, Brage Storstein Andr

Journal:

Year:

2004

Language:

english

File:

PDF, 656 KB

english, 2004

17

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency

Shin, Ha Kyung, Grahame, George, McCandless, Shawn E., Kerr, Douglas S., Bedoyan, Jirair K.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 613 KB

english, 2017

18

Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: a randomized, double-blind, placebo-controlled trial

McCandless, Shawn E., Yanovski, Jack A., Miller, Jennifer, Fu, Cary, Bird, Lynne M., Salehi, Parisa, Chan, Christine L., Stafford, Diane, Abuzzahab, M. Jennifer, Viskochil, David, Barlow, Sarah E., An

Journal:

Diabetes, Obesity and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

19

The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics

Bohonowych, Jessica, Miller, Jennifer, McCandless, Shawn E., Strong, Theresa V.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.42 MB

english, 2019

20

Metachromatic leukodystrophy in the Navajo: Fallout of the American-Indian wars of the Nineteenth Century

Steve Holve, Diana Hu, Shawn E. McCandless

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 150 KB

english, 2001

21

Urinary Tract Malformations in Identical Twins

McCandless, Shawn E., Uehling, David, Friedman, Aaron L.

Journal:

The Journal of Urology

Year:

1991

File:

PDF, 74 KB

1991

22

A primer on expanded newborn screening by tandem mass spectrometry

McCandless, Shawn E.

Journal:

Primary Care: Clinics in Office Practice

Year:

2004

Language:

english

File:

PDF, 269 KB

english, 2004

23

The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics

Bohonowych, Jessica, Miller, Jennifer, McCandless, Shawn E., Strong, Theresa V.

Journal:

Year:

2019

File:

PDF, 1.42 MB

2019

24

A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3

Denise I. Quigley, Jeffery Sailus, Kathleen Kaiser-Rogers, Kathleen W. Rao, Muge Calikoglu, Stuart Gold, Shawn E. McCandless

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

25

McKusick-Kaufman syndrome: The difficulty of establishing a prenatal diagnosis of an uncommon disorder

Thomas P. Slavin, Shawn E. McCandless, Noam Lazebnik

Journal:

Journal of Clinical Ultrasound

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

26

Multiple Muscle Cell Alterations in a Case of Encephalomyopathy

Fujioka, Hisashi, Tandler, Bernard, Rosca, Mariana, McCandless, Shawn E., Katirji, Bashar, Cohen, Mark L., Rapisuwon, Suthee, Hoppel, Charles L.

Journal:

Ultrastructural Pathology

Year:

2014

Language:

english

File:

PDF, 3.64 MB

english, 2014

27

Case Studies

IEVERS, CAROLYN E., BROWN, RONALD T., McCANDLESS, SHAWN E., DEVINE, DANIELLE E.

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

1999

File:

PDF, 1.25 MB

1999

28

Disorganization in mice and humans and its relation to sporadic birth defects

Robin, Nathaniel H., Abbadi, Naima, McCandless, Shawn E., Nadeau, Joseph H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 428 KB

english, 1997

29

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies

Hussam Al-Kateb, Amanda Hahn, Julie M. Gastier-Foster, Linda Jeng, Shawn E. McCandless, Christine A. Curtis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 206 KB

english, 2010

30

Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine

Shawn E. McCandless

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 30 KB

english, 2009

31

Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors

Nardini, Monica D., Matthews, Anne L., McCandless, Shawn E., Baumanis, Larisa, Goldenberg, Aaron J.

Journal:

Journal of Genetic Counseling

Year:

2014

Language:

english

File:

PDF, 227 KB

english, 2014

32

Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate

Smith, Wendy, Diaz, George A., Lichter-Konecki, Uta, Berry, Susan A., Harding, Cary O., McCandless, Shawn E., LeMons, Cindy, Mauney, Joe, Dickinson, Klara, Coakley, Dion F., Moors, Tristen, Mokhtarani

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 415 KB

english, 2013

33

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

Lisi, Emily C., McCandless, Shawn E.

Journal:

Journal of Genetic Counseling

Year:

2016

Language:

english

File:

PDF, 585 KB

english, 2016

34

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years

Berry, Susan A., Longo, Nicola, Diaz, George A., McCandless, Shawn E., Smith, Wendy E., Harding, Cary O., Zori, Roberto, Ficicioglu, Can, Lichter-Konecki, Uta, Robinson, Beth, Vockley, Jerry

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 559 KB

english, 2017

35

Stopping Parenteral Nutrition for 3 Hours Reduces False Positives in Newborn Screening

Tim-Aroon, Thipwimol, Harmon, Heidi M., Nock, Mary L., Viswanathan, Sreekanth K., McCandless, Shawn E.

Journal:

The Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

36

SUN-604 U.S. Prevalence & Mortality of Prader-Willi Syndrome: A Population-Based Study of Medical Claims

McCandless, Shawn E, Suh, Marissa, Yin, David, Yeh, Michael, Czado, Shawn, Aghsaei, Sina, Li, Justin W, Francis, Kevin, Hadker, Nandini, Stafford, Diane E J

Journal:

Journal of the Endocrine Society

Year:

2020

File:

PDF, 111 KB

2020

37

Deletion 22q11

McCandless, Shawn E., Scott, Jennifer A., Robin, Nathaniel H.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1998

File:

PDF, 199 KB

1998

38

Deletion 22q11

McCandless, Shawn E., Scott, Jennifer A., Robin, Nathaniel H.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1998

Language:

english

File:

PDF, 199 KB

english, 1998

39

Mandatory newborn screening in the United States: History, current status, and existential challenges

McCandless, Shawn E., Wright, Erica J.

Journal:

Birth Defects Research

Year:

2020

File:

PDF, 1.87 MB

2020

40

Risk for ingestion of toxic substances in children with Prader–Willi syndrome

Shawn E. McCandless, Karen Potter Powell, Ulrika Sandberg

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 87 KB

english, 2012

41

A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)

Joseph Muenzer, Muge Gucsavas-Calikoglu, Shawn E. McCandless, Thomas J. Schuetz, Alan Kimura

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 300 KB

english, 2007

42

Attitudes and experiences of healthcare providers regarding newborn screening for lysosomal disorders

Lisi, Emily C., Goldenberg, Aaron, McCandless, Shawn E.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

43

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

Hannah, William B., Dempsey, Katherine J., Schillaci, Lori-Anne P., Zacharias, Michael, McCandless, Shawn E., Wynshaw-Boris, Anthony, Konczal, Laura L., Bedoyan, Jirair K.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 159 KB

english, 2019

44

Mosaicism for an FMR1 gene deletion in a fragile X female

Hongxin Fan, Jessica K. Booker, Shawn E. McCandless, Vandana Shashi, Alison Fleming, Rosann A. Farber

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

45

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

46

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

Hannah, William B., Dempsey, Katherine J., Schillaci, Lori-Anne P., Zacharias, Michael, McCandless, Shawn E., Wynshaw-Boris, Anthony, Konczal, Laura L., Bedoyan, Jirair K.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 159 KB

2019

47

Betaine-Homocysteine Methyltransferase-2: cDNA Cloning, Gene Sequence, Physical Mapping, and Expression of the Human and Mouse Genes

Lisa H. Chadwick, Shawn E. McCandless, Gregory L. Silverman, Stuart Schwartz, David Westaway, Joseph H. Nadeau

Journal:

Year:

2000

Language:

english

File:

PDF, 418 KB

english, 2000

48

The Perils of SNP Microarray Testing: Uncovering Unexpected Consanguinity

Tarini, Beth A., Konczal, Laura L., Goldenberg, Aaron J., Goldman, Edward B., McCandless, Shawn E.

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 136 KB

english, 2013

49

Concerning “Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes” by Farwell Gonzalez et al.

Sremba, Leighann, McCandless, Shawn, Baker, Peter

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 237 KB

english, 2019

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