Marcia C Willing

Marcia C Willing

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Marcia C Willing

Marcia C Willing

Publications by authors named "Marcia C Willing"

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Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

Am J Hum Genet 2016 09 18;99(3):728-734. Epub 2016 Aug 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011042PMC
September 2016

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

J Bone Joint Surg Am 2015 Sep;97(17):1411-7

Departments of Orthopaedic Surgery (G.H., D.M.A., K.H.B., M.K., L.G.L., S.J.L., C.A.G., and M.B.D.), Pediatrics (M.C.W. and C.A.G.), Cardiology (A.C.B.), and Neurology (C.A.G.), Washington University, 660 South Euclid Avenue, St. Louis, MO 63110. E-mail address for M.B. Dobbs:

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http://dx.doi.org/10.2106/JBJS.O.00290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551173PMC
September 2015

Effects of enamel matrix genes on dental caries are moderated by fluoride exposures.

Hum Genet 2015 Feb 6;134(2):159-67. Epub 2014 Nov 6.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 De Soto Street, A300 Crabtree Hall, Pittsburgh, PA, 15261, USA,

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http://dx.doi.org/10.1007/s00439-014-1504-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293346PMC
February 2015

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

BMC Med Genet 2013 Oct 8;14:106. Epub 2013 Oct 8.

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St, Louis, MO 63110, USA.

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http://dx.doi.org/10.1186/1471-2350-14-106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852179PMC
October 2013

The microcephaly-capillary malformation syndrome.

Am J Med Genet A 2011 Sep 3;155A(9):2080-7. Epub 2011 Aug 3.

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.34118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428374PMC
September 2011

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

Am J Med Genet A 2011 May 4;155A(5):1021-32. Epub 2011 Apr 4.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, USA.

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http://dx.doi.org/10.1002/ajmg.a.33892DOI Listing
May 2011

A hip analysis protocol for pediatric bone densitometry: the Iowa Bone Development Study.

J Clin Densitom 2010 Oct-Dec;13(4):361-9. Epub 2010 Sep 20.

Department of Preventive and Community Dentistry, The University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1016/j.jocd.2010.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401562PMC
January 2011

Early physical activity provides sustained bone health benefits later in childhood.

Med Sci Sports Exerc 2010 Jun;42(6):1072-8

Department of Health and Sport Studies, The University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1249/MSS.0b013e3181c619b2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874089PMC
June 2010

Sustained effect of early physical activity on body fat mass in older children.

Am J Prev Med 2009 Jul 7;37(1):35-40. Epub 2009 May 7.

Department of Health and Sport Studies, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1016/j.amepre.2009.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760597PMC
July 2009

Physical activity augments bone mineral accrual in young children: The Iowa Bone Development study.

J Pediatr 2006 Jun;148(6):793-9

Department of Health and Sport Studies, The University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.01.045DOI Listing
June 2006

Percentile distributions of bone measurements in Iowa children: the Iowa Bone Development Study.

J Clin Densitom 2005 ;8(1):39-47

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA.

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July 2005

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

Circulation 2005 Jul 18;112(4):513-20. Epub 2005 Jul 18.

Department of Internal Medicine, Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, TX, USA.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.105.537340DOI Listing
July 2005

Everyday activity predicts bone geometry in children: the iowa bone development study.

Med Sci Sports Exerc 2004 Jul;36(7):1124-31

Health and Sport Studies, The University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1249/01.mss.0000132275.65378.9dDOI Listing
July 2004

Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.

J Cell Biochem 2004 May;92(1):113-24

Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.

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http://dx.doi.org/10.1002/jcb.20024DOI Listing
May 2004

Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.

Osteoporos Int 2003 Aug 22;14(8):650-8. Epub 2003 Jul 22.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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http://link.springer.com/10.1007/s00198-003-1416-1
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http://dx.doi.org/10.1007/s00198-003-1416-1DOI Listing
August 2003

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

Circulation 2003 Jul 23;107(25):3184-90. Epub 2003 Jun 23.

Department of Internal Medicine, University of Texas Medical School at Houston, USA.

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https://www.ahajournals.org/doi/10.1161/01.CIR.0000078634.33
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http://dx.doi.org/10.1161/01.CIR.0000078634.33124.95DOI Listing
July 2003

Fatness, physical activity, and television viewing in children during the adiposity rebound period: the Iowa Bone Development Study.

Prev Med 2002 Dec;35(6):563-71

Department of Health and Sport Studies, 102 FH, The University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1006/pmed.2002.1113DOI Listing
December 2002