Publications by authors named "Chanika Phornphutkul"

38Publications

Familial Dysalbuminemic Hyperthyroxinemia (FDH), Albumin Gene Variant (R218S), and Risk of Miscarriages in Offspring.

Am J Med Sci 2020 May 28. Epub 2020 May 28.

Department of Endocrinology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Guangzhou, China. Electronic address:

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http://dx.doi.org/10.1016/j.amjms.2020.05.035DOI Listing
May 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample.

JAMA Psychiatry 2020 Sep;77(9):979-981

Division of Child and Adolescent Psychiatry, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, Providence, Rhode Island.

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http://dx.doi.org/10.1001/jamapsychiatry.2020.0950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221847PMC
September 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.

Am J Med Genet A 2019 11 12;179(11):2284-2291. Epub 2019 Aug 12.

Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, Rhode Island.

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http://dx.doi.org/10.1002/ajmg.a.61322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788951PMC
November 2019

Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?

J Pediatr 2019 06 25;209:9-10. Epub 2019 Feb 25.

Department of Pediatrics, Warren Alpert Medical School of Brown University, Providence, Rhode Island.

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http://dx.doi.org/10.1016/j.jpeds.2019.01.037DOI Listing
June 2019

Growth and Neurodevelopmental Outcomes of Early, High-Dose Parenteral Amino Acid Intake in Very Low Birth Weight Infants: A Randomized Controlled Trial.

JPEN J Parenter Enteral Nutr 2018 Mar 12;42(3):597-606. Epub 2017 Dec 12.

Department of Pediatrics, Women & Infants Hospital of Rhode Island, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1177/0148607117696330DOI Listing
March 2018

PRKAG2 mutations presenting in infancy.

J Inherit Metab Dis 2017 11 11;40(6):823-830. Epub 2017 Aug 11.

Medical Genetics, Department of Pediatrics, Duke University Medical Center, DUMC 103856, 595 Lasalle Street, GSRB 1, 4th Floor, Room 4010, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10545-017-0072-0DOI Listing
November 2017

A novel, de novo mutation in the gene: infantile-onset phenotype and the signaling pathway involved.

Am J Physiol Heart Circ Physiol 2017 Aug 26;313(2):H283-H292. Epub 2017 May 26.

Women & Infants Hospital of Rhode Island, Providence, Rhode Island;

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http://dx.doi.org/10.1152/ajpheart.00813.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582920PMC
August 2017

Response to Growth hormone deficiency in mitochondrial disorders.

J Pediatr Endocrinol Metab 2017 04;30(4):483-484

Department of Pediatrics, Division of Endocrinology, Baystate Children's Hospital and Tufts University School of Medicine, Springfield, MA.

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http://dx.doi.org/10.1515/jpem-2017-0020DOI Listing
April 2017

An asymptomatic mutation complicating severe chemotherapy-induced peripheral neuropathy (CIPN): a case for personalised medicine and a zebrafish model of CIPN.

NPJ Genom Med 2016 8;1:16016. Epub 2016 Jun 8.

Department of Pediatrics, Division of Pediatric Hematology-Oncology, Hasbro Children's Hospital and The Warren Alpert Medical School at Brown University, Providence, RI, USA.

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http://dx.doi.org/10.1038/npjgenmed.2016.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685301PMC
June 2016

A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.

Pediatr Dev Pathol 2014 Nov-Dec;17(6):474-7. Epub 2014 Jul 30.

1 Department of Pathology, Women & Infants Hospital, Providence, RI, USA.

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http://dx.doi.org/10.2350/14-05-1500-CR.1DOI Listing
March 2015

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

J Med Genet 2014 Sep 23;51(9):587-9. Epub 2014 Jul 23.

Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135390PMC
September 2014

Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).

Med Health R I 2011 May;94(5):121-3

Rhode Island Hospital & Hasbro Children's Hospital, USA.

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May 2011

Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes.

J Pediatr 2011 Apr 13;158(4):538-42. Epub 2011 Jan 13.

Department of Pediatrics, The Warren Alpert Medical School of Brown University, Providence, RI, USA.

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http://dx.doi.org/10.1016/j.jpeds.2010.10.018DOI Listing
April 2011

Neonatal thyroid function: effect of a single exposure to iodinated contrast medium in utero.

Radiology 2010 Sep 15;256(3):744-50. Epub 2010 Jul 15.

Department of Medicine, Pulmonary and Critical Care Medicine, Women and Infants Hospital of Rhode Island, Providence, RI, USA.

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http://dx.doi.org/10.1148/radiol.10100163DOI Listing
September 2010

The mechanism of ascorbic acid-induced differentiation of ATDC5 chondrogenic cells.

Am J Physiol Endocrinol Metab 2010 Aug 8;299(2):E325-34. Epub 2010 Jun 8.

Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, 593 Eddy Street, Providence, RI 02903, USA.

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http://dx.doi.org/10.1152/ajpendo.00145.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928517PMC
August 2010

Disorders of the growth plate.

Curr Opin Endocrinol Diabetes Obes 2009 Dec;16(6):430-4

Department of Pediatrics, Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA.

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https://insights.ovid.com/crossref?an=01266029-200912000-000
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http://dx.doi.org/10.1097/MED.0b013e328331dca2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2894809PMC
December 2009

Leucine restriction inhibits chondrocyte proliferation and differentiation through mechanisms both dependent and independent of mTOR signaling.

Am J Physiol Endocrinol Metab 2009 Jun 28;296(6):E1374-82. Epub 2009 Apr 28.

Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital, 593 Eddy St., Providence, RI 02903, USA.

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http://dx.doi.org/10.1152/ajpendo.91018.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692404PMC
June 2009

The effect of rapamycin on bone growth in rabbits.

J Orthop Res 2009 Sep;27(9):1157-61

Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, Providence, RI 02903, USA.

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http://doi.wiley.com/10.1002/jor.20894
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http://dx.doi.org/10.1002/jor.20894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2894807PMC
September 2009

The effect of rapamycin on DNA synthesis in multiple tissues from late gestation fetal and postnatal rats.

Am J Physiol Cell Physiol 2008 Aug 11;295(2):C406-13. Epub 2008 Jun 11.

Dept. of Pediatrics, Rhode Island Hospital, 593 Eddy St., Providence, RI 02903, USA.

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http://www.physiology.org/doi/10.1152/ajpcell.00450.2007
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http://dx.doi.org/10.1152/ajpcell.00450.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518428PMC
August 2008

mTOR signaling contributes to chondrocyte differentiation.

Dev Dyn 2008 Mar;237(3):702-12

Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, Providence, Rhode Island 02903, USA.

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http://dx.doi.org/10.1002/dvdy.21464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768549PMC
March 2008

The role of insulin in chondrogenesis.

Mol Cell Endocrinol 2006 Apr 13;249(1-2):107-15. Epub 2006 Mar 13.

Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02903, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S03037207060004
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http://dx.doi.org/10.1016/j.mce.2006.02.002DOI Listing
April 2006

Insulin-like growth factor-I signaling is modified during chondrocyte differentiation.

J Endocrinol 2004 Dec;183(3):477-86

Department of Pediatrics, Rhode Island Hospital and Brown University, Providence, RI 02903, USA.

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http://dx.doi.org/10.1677/joe.1.05873DOI Listing
December 2004

Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.

Arthritis Rheum 2004 Nov;50(11):3698-701

Section on Human Biochemical Genetics, National Human Genome Research Institute, NIH Building 10, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/art.20606DOI Listing
November 2004

Long-term follow-up of well-treated nephropathic cystinosis patients.

J Pediatr 2004 Oct;145(4):555-60

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760400318
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http://dx.doi.org/10.1016/j.jpeds.2004.03.056DOI Listing
October 2004

Natural history of alkaptonuria.

N Engl J Med 2002 Dec;347(26):2111-21

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md 20892-1851, USA.

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http://dx.doi.org/10.1056/NEJMoa021736DOI Listing
December 2002

Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.

Mol Genet Metab 2002 Sep-Oct;77(1-2):136-42

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1851, USA.

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http://dx.doi.org/10.1016/s1096-7192(02)00121-xDOI Listing
May 2003