John Belmont

John Belmont

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Correction: Estimating the burden and economic impact of pediatric genetic disease.

Genet Med 2019 Sep;21(9):2161

Illumina, Inc., 5200 Illumina Way, San Diego, CA, USA.

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http://dx.doi.org/10.1038/s41436-019-0458-5DOI Listing
September 2019

Estimating the burden and economic impact of pediatric genetic disease.

Genet Med 2019 08 20;21(8):1781-1789. Epub 2018 Dec 20.

Illumina, Inc., 5200 Illumina Way, San Diego, 92122, CA, USA.

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http://dx.doi.org/10.1038/s41436-018-0398-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752475PMC
August 2019

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Am J Med Genet A 2019 Mar 19;179(3):475-479. Epub 2018 Dec 19.

Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61007DOI Listing
March 2019

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Cell 2019 Mar;177(1):32-37

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193022
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http://dx.doi.org/10.1016/j.cell.2019.02.040DOI Listing
March 2019

Water Load Test in Children with Chronic Abdominal Pain or Obesity Compared with Nonobese Controls.

South Med J 2017 03;110(3):168-171

From the Department of Pediatric Gastroenterology, Louisiana State University, New Orleans, the College of Education, Health, and Human Services, Kent State University, Kent, Ohio, the University of Kansas Medical Center, Kansas City, and the Texas Tech University Health Sciences Center, El Paso.

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http://dx.doi.org/10.14423/SMJ.0000000000000612DOI Listing
March 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Philos Trans R Soc Lond B Biol Sci 2016 12;371(1710)

Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA

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http://dx.doi.org/10.1098/rstb.2015.0406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104505PMC
December 2016

Clinical bioinformatics: emergence of a new laboratory discipline.

Expert Rev Mol Diagn 2016 11 20;16(11):1139-1141. Epub 2016 Oct 20.

b Department of Molecular and Human Genetics, Director of Bioinformatics, Baylor Genetics Laboratories , Baylor College of Medicine , Houston , TX , USA.

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http://dx.doi.org/10.1080/14737159.2016.1246184DOI Listing
November 2016

Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions.

J Lipid Res 2016 09 29;57(9):1696-711. Epub 2016 Jul 29.

United States Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX

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http://dx.doi.org/10.1194/jlr.M069526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5003156PMC
September 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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http://www.cell.com/ajhg/pdf/S0002-9297(16)00017-3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971600017
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http://dx.doi.org/10.1016/j.ajhg.2016.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043PMC
March 2016

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Am J Med Genet A 2015 Nov 21;167A(11):2742-7. Epub 2015 Jul 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639746PMC
November 2015

Racial disparities in heterotaxy syndrome.

Birth Defects Res A Clin Mol Teratol 2015 Nov 2;103(11):941-50. Epub 2015 Sep 2.

Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/bdra.23416DOI Listing
November 2015

Serial fecal microbiota transplantation alters mucosal gene expression in pediatric ulcerative colitis.

Am J Gastroenterol 2015 Apr;110(4):604-6

1] Department of Pathology, Texas Children's Hospital, Houston, Texas, USA [2] Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/ajg.2015.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4883582PMC
April 2015

Nutritional and Metabolic Biomarkers in Autism Spectrum Disorders: An Exploratory Study.

Integr Med (Encinitas) 2015 Apr;14(2):40-53

Integrative medicine department at the University of Kansas Medical Center (KUMC) in Kansas City, Kansas.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566479PMC
April 2015

A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease.

Transfus Med Hemother 2014 Nov 7;41(6):453-61. Epub 2014 Nov 7.

Department of Pathology, Texas Heart Institute, Baylor St. Luke's Medical Center, Houston, TX, USA.

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http://dx.doi.org/10.1159/000369079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280456PMC
November 2014

Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.

Am J Med Genet A 2014 Oct 6;164A(10):2581-91. Epub 2014 Aug 6.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts; Massachusetts Center for Birth Defects Research and Prevention, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462240PMC
October 2014

Genetic basis of congenital cardiovascular malformations.

Eur J Med Genet 2014 Aug 30;57(8):402-13. Epub 2014 Apr 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152939PMC
August 2014

The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck.

Nat Commun 2014 Apr 9;5:3618. Epub 2014 Apr 9.

1] Immunology Research Center, National Health Research Institutes, Zhunan 35053, Taiwan [2] Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/ncomms4618DOI Listing
April 2014

Effects of lactose-containing vs lactose-free infant formula on postprandial superior mesenteric artery flow in term infants.

JPEN J Parenter Enteral Nutr 2014 Feb 11;38(2):236-42. Epub 2013 Mar 11.

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.

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http://dx.doi.org/10.1177/0148607113478442DOI Listing
February 2014

Headstrong intervention for pediatric migraine headache: a randomized clinical trial.

J Headache Pain 2014 Feb 28;15:12. Epub 2014 Feb 28.

University of Kansas Medical Center, Department of Pediatrics, 3901 Rainbow Boulevard, Kansas City, KS 66160-7330, USA.

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http://dx.doi.org/10.1186/1129-2377-15-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996073PMC
February 2014

Replicative mechanisms for CNV formation are error prone.

Nat Genet 2013 Nov 22;45(11):1319-26. Epub 2013 Sep 22.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, Brazil.

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http://dx.doi.org/10.1038/ng.2768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3821386PMC
November 2013

Runs of homozygosity and parental relatedness.

Genet Med 2013 Sep;15(9):753-4

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http://dx.doi.org/10.1038/gim.2013.108DOI Listing
September 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Integrative genomic analysis of the human immune response to influenza vaccination.

Elife 2013 Jul 16;2:e00299. Epub 2013 Jul 16.

Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , United States ; Department of Medicine , Baylor College of Medicine , Houston , United States.

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http://dx.doi.org/10.7554/eLife.00299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713456PMC
July 2013

Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development.

Hum Mol Genet 2013 Mar 25;22(5):879-89. Epub 2012 Nov 25.

Department of Molecular and Human Genetics, Texas Children’s Hospital, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/dds494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606008PMC
March 2013

Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase.

J Infect Dis 2013 Mar 10;207(6):974-81. Epub 2013 Jan 10.

Departments of Molecular Virology and Microbiology and Medicine, Baylor College of Medicine, One Baylor Plaza, MS BCM280, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/infdis/jis935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633450PMC
March 2013

The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007.

Birth Defects Res A Clin Mol Teratol 2012 Dec 26;94(12):1004-9. Epub 2012 Oct 26.

The University of Texas Medical School, Houston, Texas, USA.

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http://dx.doi.org/10.1002/bdra.23077DOI Listing
December 2012

Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia.

J Lipid Res 2012 Nov 15;53(11):2425-8. Epub 2012 Aug 15.

Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, USA.

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http://dx.doi.org/10.1194/jlr.M028829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466010PMC
November 2012

Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007.

Birth Defects Res A Clin Mol Teratol 2012 Nov 2;94(11):951-4. Epub 2012 Nov 2.

Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas, USA.

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http://dx.doi.org/10.1002/bdra.23091DOI Listing
November 2012

Impact of restricted marital practices on genetic variation in an endogamous Gujarati group.

Am J Phys Anthropol 2012 Sep 23;149(1):92-103. Epub 2012 Jun 23.

Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

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http://dx.doi.org/10.1002/ajpa.22101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436606PMC
September 2012

Assessment of bone mineral status in children with Marfan syndrome.

Am J Med Genet A 2012 Sep 7;158A(9):2221-4. Epub 2012 Aug 7.

Department of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Houston, Texas 77030-3411, USA.

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http://dx.doi.org/10.1002/ajmg.a.35540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429634PMC
September 2012

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

Am J Med Genet A 2012 Aug 27;158A(8):2047-9. Epub 2012 Jun 27.

Department of Biology, Portland State University, Portland, Oregon 97034, USA.

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http://dx.doi.org/10.1002/ajmg.a.35457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402694PMC
August 2012

Beyond matching on the mean in developmental disabilities research.

Res Dev Disabil 2011 Nov-Dec;32(6):2134-47. Epub 2011 Aug 24.

Univ Lille Nord de France, F-59000 Lille, France.

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http://dx.doi.org/10.1016/j.ridd.2011.07.029DOI Listing
February 2012

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Am J Med Genet A 2011 Dec 3;155A(12):3025-9. Epub 2011 Nov 3.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33784DOI Listing
December 2011

Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.

Am J Med Genet A 2011 Sep 10;155A(9):2215-20. Epub 2011 Aug 10.

The Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.34129DOI Listing
September 2011

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Genome Biol 2011 Sep 21;12(9):R91. Epub 2011 Sep 21.

Division of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1186/gb-2011-12-9-r91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308054PMC
September 2011

Clan genomics and the complex architecture of human disease.

Cell 2011 Sep;147(1):32-43

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.cell.2011.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656718PMC
September 2011

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

Am J Med Genet A 2011 Jul 2;155A(7):1574-80. Epub 2011 Jun 2.

Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.34029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121908PMC
July 2011

Dilation of the aortic root in mitochondrial disease patients.

Mol Genet Metab 2011 Jun 18;103(2):167-70. Epub 2011 Feb 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 , USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.007DOI Listing
June 2011

Genetic disorders with both hearing loss and cardiovascular abnormalities.

Adv Otorhinolaryngol 2011 24;70:66-74. Epub 2011 Feb 24.

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http://dx.doi.org/10.1159/000322474DOI Listing
May 2011

Left ventricular noncompaction in Sotos syndrome.

Am J Med Genet A 2011 May 11;155A(5):1115-8. Epub 2011 Apr 11.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, USA.

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http://dx.doi.org/10.1002/ajmg.a.33838DOI Listing
May 2011

Strategic approaches to unraveling genetic causes of cardiovascular diseases.

Circ Res 2011 May;108(10):1252-69

Center for Cardiovascular Genetics, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Sciences Center, 6770 Bertner Street, Suite C900A, Houston, TX 77030, USA.

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http://dx.doi.org/10.1161/CIRCRESAHA.110.236067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115927PMC
May 2011

Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans.

J Infect Dis 2011 Apr 28;203(7):921-9. Epub 2011 Feb 28.

Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas 77030-2504, USA.

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http://dx.doi.org/10.1093/infdis/jiq156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068032PMC
April 2011

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

Birth Defects Res A Clin Mol Teratol 2011 Mar 2;91(3):162-8. Epub 2011 Feb 2.

Center for Molecular and Human Genetics, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/bdra.20764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736588PMC
March 2011

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Proc Natl Acad Sci U S A 2011 Feb 31;108(7):2915-20. Epub 2011 Jan 31.

Department of Genetics, The Howard Hughes Medical Institute,Yale University School of Medicine, New Haven, CT 06520, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1019645108
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http://dx.doi.org/10.1073/pnas.1019645108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041108PMC
February 2011

The use of TeleMedicine in the treatment of paediatric obesity: feasibility and acceptability.

Matern Child Nutr 2011 Jan;7(1):71-9

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

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http://dx.doi.org/10.1111/j.1740-8709.2010.00248.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071528PMC
January 2011

Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

Am J Med Genet A 2010 Sep;152A(9):2399-405

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724369PMC
September 2010

Comparison of different low density lipoprotein apheresis machines on brain natriuretic Peptide levels in patients with familial hypercholesterolemia.

Ther Apher Dial 2010 Feb;14(1):74-8

Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.

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http://dx.doi.org/10.1111/j.1744-9987.2009.00692.xDOI Listing
February 2010