Publications by authors named "Bruce D Gelb"

97Publications

Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C).

Cell 2020 Sep 14. Epub 2020 Sep 14.

Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, NY, NY, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, NY, NY, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, NY, NY, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, NY, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2020.09.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489877PMC
September 2020

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.

Genet Med 2020 Sep 29. Epub 2020 Sep 29.

Mindich Child Health and Development Institute, Icahn School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1038/s41436-020-00973-2DOI Listing
September 2020

Headaches in hypermobility syndromes: A pain in the neck?

Am J Med Genet A 2020 Sep 17. Epub 2020 Sep 17.

Zena and Michael A. Weiner Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.61873DOI Listing
September 2020

Cytotoxic lymphocytes are dysregulated in multisystem inflammatory syndrome in children.

medRxiv 2020 Sep 2. Epub 2020 Sep 2.

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http://dx.doi.org/10.1101/2020.08.29.20182899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480058PMC
September 2020

In Memoriam: Jaqueline A. Noonan.

J Am Coll Cardiol 2020 Sep 31;76(12):1498-1500. Epub 2020 Aug 31.

Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2020.08.018DOI Listing
September 2020

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.

Immunity 2020 Sep 3;53(3):672-684.e11. Epub 2020 Aug 3.

Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2020.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398039PMC
September 2020

The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in .

Front Genet 2020 7;11:364. Epub 2020 May 7.

Department of Physiology and Biophysics, School of Medicine, National Scientific and Technical Research Council, University of Buenos Aires, Buenos Aires, Argentina.

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http://dx.doi.org/10.3389/fgene.2020.00364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221067PMC
May 2020

Repeating or spacing learning sessions are strategies for memory improvement with shared molecular and neuronal components.

Neurobiol Learn Mem 2020 07 1;172:107233. Epub 2020 May 1.

IFIBIO-Houssay, Grupo de Neurociencia de Sistemas, Facultad de Medicina, Universidad de Buenos Aires - CONICET, 2155 Paraguay Street, Buenos Aires, Argentina. Electronic address:

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http://dx.doi.org/10.1016/j.nlm.2020.107233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451235PMC
July 2020

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.

Am J Med Genet C Semin Med Genet 2020 03 5;184(1):73-80. Epub 2020 Feb 5.

Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics & Genomic Sciences, the Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/ajmg.c.31765DOI Listing
March 2020

Enabling Technologies for Personalized and Precision Medicine.

Trends Biotechnol 2020 05 21;38(5):497-518. Epub 2020 Jan 21.

Department of Surgery, Division of Transplantation & Hepatobiliary Surgery, University of Florida, FL, USA.

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http://dx.doi.org/10.1016/j.tibtech.2019.12.021DOI Listing
May 2020

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Genome Med 2020 01 15;12(1). Epub 2020 Jan 15.

Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1186/s13073-019-0709-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961332PMC
January 2020

Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing.

Hum Mutat 2020 Apr 16;41(4):800-806. Epub 2020 Jan 16.

Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/humu.23971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069802PMC
April 2020

Proteomic Analysis of an Induced Pluripotent Stem Cell Model Reveals Strategies to Treat Juvenile Myelomonocytic Leukemia.

J Proteome Res 2020 01 12;19(1):194-203. Epub 2019 Nov 12.

Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K.

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http://dx.doi.org/10.1021/acs.jproteome.9b00495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942217PMC
January 2020

American Pediatric Society 2019 Presidential Address: striving to be a lasting blessing to the community.

Authors:
Bruce D Gelb

Pediatr Res 2019 10 19;86(4):428-431. Epub 2019 Jun 19.

Departments of Pediatrics and Genetics & Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1038/s41390-019-0470-0DOI Listing
October 2019

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Eur J Hum Genet 2020 01 15;28(1):64-75. Epub 2019 Mar 15.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0374-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906407PMC
January 2020

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

Heart Fail Clin 2018 Apr;14(2):225-235

Pediatric Cardiology, Department of Pediatrics, Sapienza University, Viale Regina Elena 324, Rome 00161, Italy.

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http://dx.doi.org/10.1016/j.hfc.2017.12.005DOI Listing
April 2018

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

J Am Coll Cardiol 2017 Apr;69(13):1653-1665

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; Pediatric Immunology-Hematology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

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https://linkinghub.elsevier.com/retrieve/pii/S07351097173048
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http://dx.doi.org/10.1016/j.jacc.2017.01.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5551973PMC
April 2017

The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency.

Authors:
Bruce D Gelb

PLoS Biol 2016 09 8;14(9):e2000494. Epub 2016 Sep 8.

The Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.2000494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015829PMC
September 2016

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes.

Stem Cell Reports 2016 09 25;7(3):355-369. Epub 2016 Aug 25.

The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2016.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5032183PMC
September 2016

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

Hum Mol Genet 2016 09 27;25(17):3824-3835. Epub 2016 Jul 27.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy

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http://dx.doi.org/10.1093/hmg/ddw229DOI Listing
September 2016

Construction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell Therapy.

J Vis Exp 2016 Mar 1(109):e53447. Epub 2016 Mar 1.

Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai;

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http://dx.doi.org/10.3791/53447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828207PMC
March 2016

Genetics of congenital heart disease.

Curr Opin Cardiol 2016 May;31(3):235-41

aThe Mindich Child Health and Development Institute bDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.

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http://dx.doi.org/10.1097/HCO.0000000000000274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868504PMC
May 2016

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.

Cell Rep 2015 Oct 8;13(3):504-515. Epub 2015 Oct 8.

The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618050PMC
October 2015

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Prog Pediatr Cardiol 2015 Jul;39(1):13-19

Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1016/j.ppedcard.2015.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568836PMC
July 2015

History of Our Understanding of the Causes of Congenital Heart Disease.

Authors:
Bruce D Gelb

Circ Cardiovasc Genet 2015 Jun;8(3):529-36

From the Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870049PMC
June 2015

Atenolol versus losartan in children and young adults with Marfan's syndrome.

N Engl J Med 2014 Nov 18;371(22):2061-71. Epub 2014 Nov 18.

From Boston Children's Hospital, Boston (R.V.L., S.D.C., E.S.S.T., J.C.L.); Johns Hopkins University School of Medicine, Baltimore (H.C.D.); New England Research Institutes, Watertown, MA (L.A.S., S.D.C., S.C., G.L.K.); Primary Children's Hospital and the University of Utah, Salt Lake City (A.T.Y.); Hospital for Sick Children, Toronto (T.J.B., E.R.); National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (G.D.P., V.L.P., M.P.S.); Medical University of South Carolina, Charleston (A.M.A.); Cincinnati Children's Medical Center, Cincinnati (D.W.B.); Washington University School of Medicine, St. Louis (A.C.B., A.M.S.); Ghent University Hospital, Ghent, Belgium (J.D.B., B.L.L.); Icahn School of Medicine at Mount Sinai (B.D.G.), Children's Hospital of New York (W.W.L.), and Weill Medical College of Cornell University (M.J.R.) - all in New York; Rady Children's Hospital, University of California, San Diego (P.D.G.); Texas Children's Hospital, Houston (A.L.); Vanderbilt University School of Medicine, Nashville (L.W.M.); Seattle Children's Hospital, Seattle (A.K.O.); Children's Hospital of Philadelphia (S.M.P.) and the University of Pennsylvania (R.E.P.), Philadelphia; Children's Hospital and Clinics of Minnesota, Minneapolis (M.E.P.); Duke University Medical Center, Durham, NC (S.B.W.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (L.T.Y.); and the University of Texas Southwestern Medical Center, Dallas (L.M.).

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http://dx.doi.org/10.1056/NEJMoa1404731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386623PMC
November 2014

Pediatric cardiac retransplantation: Waitlist mortality stratified by age and era.

J Heart Lung Transplant 2015 Apr 4;34(4):530-7. Epub 2014 Jun 4.

Divisions of a?>Pediatric Cardiology. Electronic address:

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http://dx.doi.org/10.1016/j.healun.2014.05.014DOI Listing
April 2015

Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression.

PLoS One 2014 10;9(7):e101316. Epub 2014 Jul 10.

The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0101316PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4092021PMC
March 2015

Complex genetics and the etiology of human congenital heart disease.

Cold Spring Harb Perspect Med 2014 Jul 1;4(7):a013953. Epub 2014 Jul 1.

Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032.

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http://dx.doi.org/10.1101/cshperspect.a013953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066638PMC
July 2014

New mechanistic and therapeutic targets for pediatric heart failure: report from a National Heart, Lung, and Blood Institute working group.

Circulation 2014 Jul;130(1):79-86

From the National Heart, Lung, and Blood Institute, Bethesda, MD (K.M.B., G.D.P.); University of Florida, Gainesville, FL (B.J.B.); Icahn School of Medicine at Mount Sinai, New York, NY (B.D.G.); Boston Children's Hospital and Harvard Medical School, Boston, MA (B.K.); Biofrontiers Institute, Boulder, CO (L.A.L.); Hospital for Sick Children, Toronto, ON, Canada (S.M., A.N.R.); Indiana University School of Medicine, Indianapolis, IN (M.R.); University of Pennsylvania School of Medicine, Philadelphia, PA (J.W.R.); University of Colorado School of Medicine, Aurora, CO (B.L.S.); and Cincinnati Children's Hospital Medical Center, Cincinnati, OH (M.D.T., J.A.T.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.113.007980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554711PMC
July 2014

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

Am J Med Genet A 2014 Sep 28;164A(9):2351-5. Epub 2014 May 28.

Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.36620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134745PMC
September 2014

Concise review: drug discovery in the age of the induced pluripotent stem cell.

Stem Cells Transl Med 2014 Apr 3;3(4):500-9. Epub 2014 Feb 3.

Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.5966/sctm.2013-0162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973715PMC
April 2014

Frequency of aortic dilation in Noonan syndrome.

Am J Cardiol 2014 Jan 4;113(2):368-71. Epub 2013 Oct 4.

Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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http://dx.doi.org/10.1016/j.amjcard.2013.09.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947366PMC
January 2014

Recent advances in understanding the genetics of congenital heart defects.

Authors:
Bruce D Gelb

Curr Opin Pediatr 2013 Oct;25(5):561-6

Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1097/MOP.0b013e3283648826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049978PMC
October 2013

MiST: a new approach to variant detection in deep sequencing datasets.

Nucleic Acids Res 2013 Sep 4;41(16):e154. Epub 2013 Jul 4.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, NY 10029, USA, The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, NY 10029, USA and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, NY 10029, USA.

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http://dx.doi.org/10.1093/nar/gkt551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763541PMC
September 2013

Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

Am J Hum Genet 2013 Jun 30;92(6):917-26. Epub 2013 May 30.

Molecular and Computational Biology Program, University of Southern California, Los Angeles, CA 90089-2910, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682763PMC
June 2013

Genetics of congenital heart disease: the glass half empty.

Circ Res 2013 Feb;112(4):707-20

Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1161/CIRCRESAHA.112.300853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827691PMC
February 2013

Noonan syndrome.

Lancet 2013 Jan 10;381(9863):333-42. Epub 2013 Jan 10.

Department of Cardiology and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01406736126102
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http://dx.doi.org/10.1016/S0140-6736(12)61023-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267483PMC
January 2013

Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger.

Anadolu Kardiyol Derg 2012 Sep 22;12(6):523-4. Epub 2012 Jun 22.

Department of Pediatric Cardiology, Faculty of Medicine, Kocaeli University, Kocaeli-Turkey.

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http://dx.doi.org/10.5152/akd.2012.165DOI Listing
September 2012