Publications by authors named "Andrew Dauber"

93Publications

Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects.

Mol Cell Endocrinol 2020 Jul 30:110967. Epub 2020 Jul 30.

Division of Endocrinology, Children's National Hospital, Washington, DC, 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, 20052, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2020.110967DOI Listing
July 2020

A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness.

J Clin Endocrinol Metab 2020 Oct;105(10)

Division of Endocrinology, Boston Children's Hospital, and Program in Medical and Population Genetics, Broad Institute, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1210/clinem/dgaa443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446971PMC
October 2020

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.

Horm Res Paediatr 2020 23;93(3):164-172. Epub 2020 Jun 23.

Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1159/000508500DOI Listing
June 2020

Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood.

Eur J Endocrinol 2020 Mar;182(3):363-374

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1530/EJE-19-0859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238294PMC
March 2020

Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.

Clin Endocrinol (Oxf) 2020 04 22;92(4):331-337. Epub 2020 Jan 22.

Section of Diabetes and Endocrinology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

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http://dx.doi.org/10.1111/cen.14148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7172700PMC
April 2020

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Horm Res Paediatr 2019 12;92(2):115-123. Epub 2019 Nov 12.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil,

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http://dx.doi.org/10.1159/000503782DOI Listing
May 2020

Response to Letter to the Editor: "Genetic Testing for the Child with Short Stature: Has the Time Come to Change Our Diagnostic Paradigm?"

Authors:
Andrew Dauber

J Clin Endocrinol Metab 2020 Apr;105(4)

Division of Endocrinology, Children's National Hospital, Washington, DC, US.

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http://dx.doi.org/10.1210/clinem/dgz178DOI Listing
April 2020

Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome.

J Pediatr 2020 01 18;216:227-231. Epub 2019 Oct 18.

Division of Endocrinology, Children's National Health System, Washington, DC; Department of Pediatrics, George Washington School of Medicine and Health Sciences, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.09.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245696PMC
January 2020

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

J Pediatr 2019 12 17;215:192-198. Epub 2019 Oct 17.

Genetic Endocrinology Unit, Laboratory of Cellular and Molecular Endocrinology (LIM25), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Brazil; Development Endocrinology Unit, Laboratory of Hormones and Molecular Genetics (LIM42), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.08.024DOI Listing
December 2019

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Mol Genet Genomic Med 2019 11 7;7(11):e969. Epub 2019 Sep 7.

Division of Endocrinology, Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/mgg3.969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825850PMC
November 2019

Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.

Endocrinology 2019 06;160(6):1363-1376

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1210/en.2018-00755DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507901PMC
June 2019

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

Horm Res Paediatr 2018 5;90(6):407-413. Epub 2019 Mar 5.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000496700DOI Listing
August 2019

Genetic Testing for the Child With Short Stature-Has the Time Come To Change Our Diagnostic Paradigm?

Authors:
Andrew Dauber

J Clin Endocrinol Metab 2019 07;104(7):2766-2769

Division of Endocrinology, Children's National Health System, Washington, DC.

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http://dx.doi.org/10.1210/jc.2019-00019DOI Listing
July 2019

A Novel Homozygous Mutation of the Acid-Labile Subunit Gene in a Male Adolescent

J Clin Res Pediatr Endocrinol 2019 11 5;11(4):432-438. Epub 2019 Feb 5.

İstanbul University İstanbul Faculty of Medicine, Unit of Pediatric Endocrinology, İstanbul, Turkey

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878349PMC
November 2019

DLK1 Is a Novel Link Between Reproduction and Metabolism.

J Clin Endocrinol Metab 2019 06;104(6):2112-2120

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1210/jc.2018-02010DOI Listing
June 2019

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Endocr Rev 2019 04;40(2):476-505

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1210/er.2018-00146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6607971PMC
April 2019

Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing.

Clin Case Rep 2018 Aug 21;6(8):1531-1534. Epub 2018 Jun 21.

Cincinnati Center for Growth Disorders Division of Endocrinology Cincinnati Children's Hospital Medical Center Cincinnati OH USA.

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http://dx.doi.org/10.1002/ccr3.1655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099013PMC
August 2018

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Cell Physiol Biochem 2018 23;49(1):295-305. Epub 2018 Aug 23.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

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http://dx.doi.org/10.1159/000492879DOI Listing
September 2018

The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Case Rep Endocrinol 2018 3;2018:8212417. Epub 2018 Jul 3.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, USA.

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http://dx.doi.org/10.1155/2018/8212417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051107PMC
July 2018

Insights and Implications of Genome-Wide Association Studies of Height.

J Clin Endocrinol Metab 2018 09;103(9):3155-3168

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1210/jc.2018-01126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263788PMC
September 2018

PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: and Evidence.

J Endocr Soc 2018 Jul 28;2(7):646-656. Epub 2018 May 28.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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https://academic.oup.com/jes/article/2/7/646/5005862
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http://dx.doi.org/10.1210/js.2018-00106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6009608PMC
July 2018

Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2.

J Clin Res Pediatr Endocrinol 2017 Dec 27;9(Suppl 2):1-8. Epub 2017 Dec 27.

Cincinnati Children's Hospital Medical Center, Cincinnati Center for Growth Disorders, Clinic of Endocrinology, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.4274/jcrpe.2017.S001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790331PMC
December 2017

Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.

J Clin Endocrinol Metab 2018 04;103(4):1470-1478

Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1210/jc.2017-01948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276576PMC
April 2018

New genetic tools in the diagnosis of growth defects.

Authors:
Andrew Dauber

Growth Horm IGF Res 2018 02 13;38:24-28. Epub 2017 Nov 13.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, USA; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7012, Cincinnati, OH, 45229., United States. Electronic address:

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http://dx.doi.org/10.1016/j.ghir.2017.11.002DOI Listing
February 2018

IGF-I Deficiency in the Era of Genomics: Lessons Learned.

Authors:
Andrew Dauber

Horm Res Paediatr 2017 29;88(6):418-420. Epub 2017 Sep 29.

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http://dx.doi.org/10.1159/000481285DOI Listing
September 2019

Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.

Horm Res Paediatr 2017 4;88(5):364-370. Epub 2017 Jul 4.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000477907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261367PMC
July 2018

Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.

Clin Endocrinol (Oxf) 2017 12 21;87(6):874-876. Epub 2017 Jul 21.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://doi.wiley.com/10.1111/cen.13400
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http://dx.doi.org/10.1111/cen.13400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698139PMC
December 2017

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.

Pediatr Endocrinol Rev 2017 Mar;14(3):289-297

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center. Cincinnati, OH, USA.

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http://dx.doi.org/10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowthDOI Listing
March 2017

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

Horm Res Paediatr 2017 10;87(6):412-422. Epub 2017 Apr 10.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000464143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509495PMC
April 2018

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.

J Clin Endocrinol Metab 2017 05;102(5):1557-1567

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-093, Brazil.

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http://dx.doi.org/10.1210/jc.2016-3677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443333PMC
May 2017

Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.

J Clin Endocrinol Metab 2016 Nov 20;101(11):3879-3883. Epub 2016 Sep 20.

Department of Pediatrics and Pediatric Endocrinology (M.T.M.-C., V.B., J.P., J.A.C., G.A.M.-M., J.A.) Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Centro de Investigación Biomédica en Red (CIBEROBN), Instituto de Salud Carlos III, 28009 Madrid, Spain; Department of Endocrinology (F.H.), Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, 28040 Madrid, Spain; Cincinnati Center for Growth Disorders (A.D.), Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) (H.M.D.), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina; Department of Basic Science and Craniofacial Biology (S.Y.), New York University College of Dentistry, New York, New York 10010; Oregon Health and Science University (R.G.R.), Portland, Oregon 97239; Stat5 LLC (R.G.R.), Los Altos, California 94022; Genetics Unit (L.A.P.-J.), Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 08003 Barcelona, Spain; Department of Molecular Biology and Genetics (C.O.), Aarhus University, 8000 Aarhus, Denmark; and Medical Research Laboratory (J.F.), Department of Clinical Medicine, Faculty of Health, Aarhus University and Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8000 Aarhus, Denmark.

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http://dx.doi.org/10.1210/jc.2016-2751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393598PMC
November 2016

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

Am J Hum Genet 2016 09 18;99(3):527-539. Epub 2016 Aug 18.

Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011058PMC
September 2016

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

Horm Res Paediatr 2016 2;86(5):342-348. Epub 2016 Jun 2.

Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000446476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135661PMC
April 2017

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.

Neuroendocrinology 2017 26;105(1):17-25. Epub 2016 May 26.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000446963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5195904PMC
March 2018

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

EMBO Mol Med 2016 04;8(4):363-74

Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain

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http://dx.doi.org/10.15252/emmm.201506106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818753PMC
April 2016

Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

Horm Res Paediatr 2016 21;85(5):358-62. Epub 2016 Jan 21.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1159/000443684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891295PMC
April 2017

Genomic insights into growth and its disorders: an update.

Curr Opin Endocrinol Diabetes Obes 2016 Feb;23(1):51-6

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1097/MED.0000000000000209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733875PMC
February 2016

Short and tall stature: a new paradigm emerges.

Nat Rev Endocrinol 2015 Dec 6;11(12):735-46. Epub 2015 Oct 6.

Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, SE-171 76, Stockholm, Sweden.

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http://dx.doi.org/10.1038/nrendo.2015.165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002943PMC
December 2015

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

BMC Genomics 2015 Sep 16;16:701. Epub 2015 Sep 16.

Medical Genetics Department, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.

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http://dx.doi.org/10.1186/s12864-015-1898-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574214PMC
September 2015

Insights from exome sequencing for endocrine disorders.

Nat Rev Endocrinol 2015 Aug 12;11(8):455-64. Epub 2015 May 12.

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

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http://dx.doi.org/10.1038/nrendo.2015.72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806650PMC
August 2015

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

J Clin Endocrinol Metab 2015 May 5;100(5):E789-98. Epub 2015 Mar 5.

Cincinnati Center for Growth Disorders (C.d.B., S.F.A., V.H., A.D.), Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Institute of Maternal and Child Research (V.M.), Faculty of Medicine, University of Chile, 226-3 Santiago, Chile; Laboratory for Diagnostic Genome Analysis (H.A.v.D., M.L.), Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands; Department of Genetics (N.S.V., D.C.v.G.), Erasmus MC, 3015 CE Rotterdam, The Netherlands; Center for Autoimmune Genomics and Etiology (A.P.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Pediatrics Division (H.G.), Faculty of Medicine, Pontificia Universidad Catolica de Chile Santiago, 340 Santiago, Chile; Division of Developmental Biology (Y.K.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; Institute of Human Development (D.H., P.C.), University of Manchester and Manchester Academic Health Sciences Centre, Manchester M13 9PL, United Kingdom; and Department of Pediatrics (J.M.W.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://repositorio.uchile.cl/bitstream/handle/2250/134110/An
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http://press.endocrine.org/doi/10.1210/jc.2015-1098
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http://dx.doi.org/10.1210/jc.2015-1098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422886PMC
May 2015

A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.

Horm Res Paediatr 2014 1;82(5):344-52. Epub 2014 Nov 1.

Division of Endocrinology, Boston Children's Hospital, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000368192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329776PMC
July 2015

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

J Clin Endocrinol Metab 2014 Oct 24;99(10):E2117-22. Epub 2014 Jul 24.

Department of Radiation Oncology (S.L.K.), Icahn School of Medicine at Mt Sinai, New York, New York 10029; Universidad San Francisco de Quito and Instituto de Endocrinología, Instituto de Endocrinologia Metabolismo y Reproducción (J.G.-A., C.G., M.G.-A.), 6337 CCI Quito, Ecuador; Department of Pediatrics (S.A., R.G.R., V.H.), Oregon Health and Science University, Portland, Oregon 97239; Department of Laboratory Medicine (J.G., Y.S.), Boston Children's Hospital, Boston, Massachusetts 02115; Shanghai Children's Medical Center (J.G., Y.S.), Shanghai Jiaotong University School of Medicine, Shanghai 200127, China; Department of Genetics (M.G.), Harvard Medical School, Boston, Massachusetts 02115; Program in Medical and Population Genetics (M.G., A.D.), Broad Institute, Cambridge, Massachusetts 02142; Departments of Pathology, Pediatrics and Genetics (C.O., H.O.), Albert Einstein College of Medicine of Yeshiva University, New York, New York 10461; Department of Pathology (Y.S.), Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115; Universidad San Francisco (A.Z.), 12841 Quito, Ecuador; and Division of Endocrinology (A.D.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229.

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http://dx.doi.org/10.1210/jc.2014-1949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184067PMC
October 2014

Whole exome sequencing to identify genetic causes of short stature.

Horm Res Paediatr 2014 20;82(1):44-52. Epub 2014 Jun 20.

Department of Genetics, Harvard Medical School, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000360857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130218PMC
March 2015

Genetic evaluation of short stature.

J Clin Endocrinol Metab 2014 Sep 10;99(9):3080-92. Epub 2014 Jun 10.

Division of Endocrinology (A.D., J.N.H.), Boston Children's Hospital, Boston, Massachusetts 02115; Broad Institute (A.D., J.N.H.), Cambridge, Massachusetts 02142; Department of Pediatrics (R.G.R.), Oregon Health & Science University, Portland, Oregon 97239; Division of Genetics (J.N.H.), Boston Children's Hospital, Boston, Massachusetts 02115; and Departments of Genetics and Pediatrics (J.N.H.), Harvard Medical School, Boston, Massachusetts 02115.

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https://www.acmg.net/StaticContent/ppg/ACMG_practice_guideli
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http://press.endocrine.org/doi/abs/10.1210/jc.2014-1506
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http://dx.doi.org/10.1210/jc.2014-1506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154097PMC
September 2014

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

J Clin Endocrinol Metab 2014 Aug 24;99(8):E1510-8. Epub 2014 Apr 24.

Program in Developmental Endocrinology and Genetics (O.N., J.C.L., J.B.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Center for Molecular Medicine and Pediatric Endocrinology Unit, Department of Women's and Children's Health (O.N.), Karolinska Institutet and Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Program in Biological and Biomedical Sciences (M.H.G.), Harvard Medical School, Boston, Massachusetts 02115; Connecticut Children's Medical Center (N.D.), Hartford, Connecticut 06106; Children's Hospital of Pittsburgh (J.P., D.F.), University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224; Division of Endocrinology (M.H.G., C.J., J.N.H., A.D.), Boston Children's Hospital, Boston, Massachusetts 02115; Department of Genetics (M.H.G., J.N.H.), Harvard Medical School, Boston, Massachusetts 02115; and Program in Medical and Population Genetics (J.N.H., A.D.), Broad Institute, Cambridge, Massachusetts 02142.

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http://dx.doi.org/10.1210/jc.2014-1332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121031PMC
August 2014

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

J Clin Endocrinol Metab 2014 Jun 14;99(6):E1097-103. Epub 2014 Mar 14.

Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular/LIM42, Disciplina de Endocrinologia (D.B.M., A.P.A., L.R.M., D.B., P.C., L.F.G.S., M.G.T., I.J.P.A., B.B.M., V.N.B., A.C.L.), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil, 05403-900; Departamento de Puericultura e Pediatria (A.C.S.R., M.C., A.C.M., C.E.M., S.R.A.), Faculdade de Medicina de Ribeirão Preto, da Universidade de São Paulo, Ribeirão Preto, SP, Brasil, 14049900; Division of Endocrinology, Diabetes, and Hypertension (A.P.A., R.S.C., U.B.K.), Brigham and Women's Hospital and Harvard Medical School and Division of Endocrinology, (A.D., J.N.H.) Boston Children's Hospital, Boston, Massachusetts 02115, Program in Medical and Population Genetics Broad Institute (A.D., J.N.H.), Cambridge, Massachusetts 02142; Unidade de Endocrinologia Pediátrica (G.G.J., G.G.F.), Universidade de Campinas, SP, Brasil, 13084-970; and Medical Faculty Skopje (Z.G.), 50 Divizija BB, 1000 Skopje, Macedonia.

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http://dx.doi.org/10.1210/jc.2013-3126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037732PMC
June 2014

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E153-9. Epub 2013 Dec 20.

Division of Endocrinology (L.B., J.E.M., J.N.H., A.D.), Boston Children's Hospital, Boston, Massachusetts 02115; Shanghai Children's Medical Center (Y.Y.), Shanghai Jiaotong University School of Medicine, Shanghai 200127, China; Pediatrics Institute (B.W.), Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, Shanghai 201102, PR China; Program in Medical and Population Genetics (J.N.H.), Broad Institute, Cambridge, Massachusetts 02142; Department of Genetics (J.N.H.), Harvard Medical School, Boston, Massachusetts 02115; Department of Pathology (Y.S.), Harvard Medical School, and Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts 02115; and Shanghai Children's Medical Center (Y.S.), Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.1210/jc.2013-3106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879666PMC
January 2014

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E183-8. Epub 2013 Dec 20.

Section on Endocrinology and Genetics (P.S., E.L., F.R.F., I.L., E.G., M.F.K., C.L., C.A.S.), Program on Developmental Endocrinology and Genetics and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Department of Biochemistry and Molecular Medicine (A.H.), The George Washington University, Washington, D.C. 20037; Department of Molecular Medicine (A.V., A.F., O.Z.), University of Pavia, Pavia 27100, Italy; Division of Genetics and Endocrinology (A.D., I.A.H.), Boston Children's Hospital, Boston, Massachusetts; Regional Medical Genetics Center (P.J.M.), Queens University Belfast, Belfast BT9 7AB, United Kingdom; and Quest Diagnostics Nichols Institute (E.D.S., M.A.S., J.C.K., Z.D., P.M.), Chantilly, Virginia 20151.

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http://dx.doi.org/10.1210/jc.2013-3159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879675PMC
January 2014

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Am J Med Genet A 2013 Oct 16;161A(10):2519-27. Epub 2013 Aug 16.

Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788078PMC
October 2013

Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing.

Horm Res Paediatr 2013 3;79(6):379-86. Epub 2013 May 3.

Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1159/000350013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788832PMC
February 2014

Acquired hypothyroidism in an infant related to excessive maternal iodine intake: food for thought.

Endocr Pract 2013 Jul-Aug;19(4):729-31

Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.4158/EP13017.CODOI Listing
March 2014

Closed-loop insulin therapy improves glycemic control in children aged <7 years: a randomized controlled trial.

Diabetes Care 2013 Feb 1;36(2):222-7. Epub 2012 Oct 1.

Division of Endocrinology, Boston Children’s Hospital, Boston, MA, USA.

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http://dx.doi.org/10.2337/dc12-1079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554296PMC
February 2013

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

J Pediatr 2013 Jan 10;162(1):202-4.e1. Epub 2012 Sep 10.

Division of Endocrinology, Children's Hospital Boston, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1016/j.jpeds.2012.07.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3524393PMC
January 2013

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

J Clin Endocrinol Metab 2012 Feb 23;97(2):E268-74. Epub 2011 Nov 23.

Division of Endocrinology, Children's Hospital Boston, Clinical Investigator Training Program, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1210/jc.2011-1972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3275367PMC
February 2012

Genome-wide association studies in pediatric endocrinology.

Horm Res Paediatr 2011 5;75(5):322-8. Epub 2011 Apr 5.

Division of Endocrinology, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1159/000326684DOI Listing
August 2011

Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy.

Can J Anaesth 2011 Apr 12;58(4):392-5. Epub 2011 Jan 12.

Department of Anesthesiology, Perioperative and Pain Medicine, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s12630-010-9451-9DOI Listing
April 2011

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

Pediatrics 2010 Dec 1;126(6):e1594-8. Epub 2010 Nov 1.

Division of Endocrinology, CLS 16, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA.

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http://dx.doi.org/10.1542/peds.2010-0164DOI Listing
December 2010

Nocturnal Dexamethasone versus Hydrocortisone for the Treatment of Children with Congenital Adrenal Hyperplasia.

Int J Pediatr Endocrinol 2010 14;2010. Epub 2010 Sep 14.

Division of Endocrinology, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1155/2010/347636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2943098PMC
July 2011

Monitoring of therapy in congenital adrenal hyperplasia.

Clin Chem 2010 Aug 17;56(8):1245-51. Epub 2010 Jun 17.

Division of Endocrinology, Children's Hospital Boston, Boston, MA, USA.

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http://dx.doi.org/10.1373/clinchem.2010.146035DOI Listing
August 2010

Procalcitonin levels in febrile infants after recent immunization.

Pediatrics 2008 Nov;122(5):e1119-22

Divisions of Endocrinology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1542/peds.2008-1884DOI Listing
November 2008

Procalcitonin in young febrile infants for the detection of serious bacterial infections.

Pediatrics 2008 Oct;122(4):701-10

Division of Emergency Medicine, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1542/peds.2007-3503DOI Listing
October 2008