Barbara R Pober

Barbara R Pober

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Barbara R Pober

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Mild macrocytosis in Williams-Beuren syndrome.

Eur J Med Genet 2019 Aug 13:103740. Epub 2019 Aug 13.

Frank H. Netter School of Medicine, Quinnipiac University, USA; Massachusetts General Hospital, USA; Harvard Medical School, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103740DOI Listing
August 2019

Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome.

Clin Endocrinol (Oxf) 2018 11 18;89(5):596-604. Epub 2018 Sep 18.

Program in Nutritional Metabolism, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.

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http://doi.wiley.com/10.1111/cen.13829
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http://dx.doi.org/10.1111/cen.13829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524786PMC
November 2018

Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series.

J Autism Dev Disord 2018 03;48(3):947-952

Lurie Center for Autism, Massachusetts General Hospital, One Maguire Road, Lexington, MA, 02421-3114, USA.

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http://dx.doi.org/10.1007/s10803-017-3384-xDOI Listing
March 2018

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

Am J Med Genet A 2017 Aug 2;173(8):2235-2239. Epub 2017 Jun 2.

Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, and the Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509496PMC
August 2017

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report.

Eur J Med Genet 2017 05 27;60(5):250-256. Epub 2017 Feb 27.

Division of Endocrine, Department of Pediatrics, and Program in Nutritional Metabolism, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.ejmg.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490490PMC
May 2017

The proceedings of the 15th professional conference on Williams Syndrome.

Am J Med Genet A 2017 May 29;173(5):1159-1171. Epub 2017 Mar 29.

Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston.

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http://dx.doi.org/10.1002/ajmg.a.38156DOI Listing
May 2017

Hypercalcemia in Patients with Williams-Beuren Syndrome.

J Pediatr 2016 Nov 26;178:254-260.e4. Epub 2016 Aug 26.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; National Institutes of Health, National Heart, Lung, and Blood Institute, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.08.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5085847PMC
November 2016

N-acetylcysteine for neuropsychiatric symptoms in a woman with Williams syndrome.

J Child Neurol 2014 Nov 5;29(11):NP135-8. Epub 2014 Jan 5.

Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA, USA Harvard Medical School, Boston, MA, USA Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA

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http://dx.doi.org/10.1177/0883073813512025DOI Listing
November 2014

Skin findings in Williams syndrome.

Am J Med Genet A 2014 Sep 11;164A(9):2217-25. Epub 2014 Jun 11.

Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134746PMC
September 2014

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.

Proc Natl Acad Sci U S A 2014 Aug 8;111(34):12450-5. Epub 2014 Aug 8.

The Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114; Department of Surgery, Harvard Medical School, Boston, MA 02115; Broad Institute, Cambridge, MA 02141;

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http://dx.doi.org/10.1073/pnas.1412509111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151769PMC
August 2014

Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiency.

Arterioscler Thromb Vasc Biol 2013 May 14;33(5):1028-35. Epub 2013 Mar 14.

Department of Surgery, Interdepartmental Program in Vascular Biology and Therapeutics, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1161/ATVBAHA.112.300407DOI Listing
May 2013

Hearing from parents: the impact of receiving the diagnosis of Williams syndrome in their child.

Am J Med Genet A 2013 Mar 7;161A(3):534-41. Epub 2013 Feb 7.

Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.35789DOI Listing
March 2013

Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients.

Pediatr Dev Pathol 2012 Jul-Aug;15(4):265-74. Epub 2012 Mar 7.

Center for Pediatric Biomedical Research, University of Rochester, Rochester, NY, USA.

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http://journals.sagepub.com/doi/10.2350/11-05-1041-OA.1
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http://dx.doi.org/10.2350/11-05-1041-OA.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3761363PMC
November 2012

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.

Proc Natl Acad Sci U S A 2012 Feb 6;109(8):2978-83. Epub 2012 Feb 6.

Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1073/pnas.1121621109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286948PMC
February 2012

Maternal periconceptional exposure to cigarette smoking and alcohol consumption and congenital diaphragmatic hernia.

Birth Defects Res A Clin Mol Teratol 2010 Dec 14;88(12):1040-9. Epub 2010 Sep 14.

Department of Epidemiology, The University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/bdra.20716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034620PMC
December 2010

Pulmonary function and emphysema in Williams-Beuren syndrome.

Am J Med Genet A 2010 Mar;152A(3):653-6

Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397670PMC
March 2010

Williams-Beuren syndrome.

Authors:
Barbara R Pober

N Engl J Med 2010 Jan;362(3):239-52

Center for Human Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://www.nejm.org/doi/abs/10.1056/NEJMra0903074
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http://dx.doi.org/10.1056/NEJMra0903074DOI Listing
January 2010

Williams syndrome: a multidisciplinary approach to care.

Pediatr Ann 2009 Aug;38(8):456-63

Williams Syndrome Clinic, Massachusetts General Hospital, and Department of Psychiatry, Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.3928/00904481-20090723-10DOI Listing
August 2009

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

J Clin Invest 2008 May;118(5):1606-15

Department of Pediatrics, MassGeneral Hospital for Children, Simches Research Building, Rm. 222, 185 Cambridge St., Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1172/JCI35309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2358987PMC
May 2008

Nutrient intakes in women and congenital diaphragmatic hernia in their offspring.

Birth Defects Res A Clin Mol Teratol 2008 Mar;82(3):131-8

March of Dimes, California Research Division, Oakland, California 94609, USA.

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http://dx.doi.org/10.1002/bdra.20436DOI Listing
March 2008

Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.

Am J Med Genet C Semin Med Genet 2007 Aug;145C(3):280-90

Harvard Medical School, Boston, USA.

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http://dx.doi.org/10.1002/ajmg.c.30139DOI Listing
August 2007

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Authors:
Barbara R Pober

Am J Med Genet C Semin Med Genet 2007 May;145C(2):158-71

Department of Surgery, Children's Hospital of Boston, Boston, MA, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30126
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http://dx.doi.org/10.1002/ajmg.c.30126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2891729PMC
May 2007

Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.

Am J Med Genet C Semin Med Genet 2007 May;145C(2):201-16

Genetics Unit, MassGeneral Hospital for Children, Boston, MA 02114, USA.

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http://dx.doi.org/10.1002/ajmg.c.30131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2891735PMC
May 2007

Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics.

Am J Med Genet C Semin Med Genet 2007 May;145C(2):105-8

Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/ajmg.c.30133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2891760PMC
May 2007

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

Neurogenetics 2007 Apr 29;8(2):131-5. Epub 2006 Nov 29.

Department of Pharmacology, Yale University School of Medicine, New Haven, CT, USA.

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http://link.springer.com/10.1007/s10048-006-0071-z
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http://dx.doi.org/10.1007/s10048-006-0071-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1820748PMC
April 2007

Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?

Am J Med Genet A 2005 Dec;139(3):186-93

Teratology Unit, Pediatric Service, MassGeneral Hospital for Children, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/ajmg.a.31023DOI Listing
December 2005

Fog2 is required for normal diaphragm and lung development in mice and humans.

PLoS Genet 2005 Jul 17;1(1):58-65. Epub 2005 Jun 17.

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

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http://dx.doi.org/10.1371/journal.pgen.0010010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1183529PMC
July 2005

Multisystem study of 20 older adults with Williams syndrome.

Am J Med Genet A 2004 Dec;131(3):255-64

Child Study Center, Yale School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1002/ajmg.a.30400DOI Listing
December 2004

Fetal stroke.

Pediatr Neurol 2004 Mar;30(3):151-62

Department of Radiology, Stanford University School of Medicine, Stanford, California, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940300469
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http://dx.doi.org/10.1016/j.pediatrneurol.2003.08.004DOI Listing
March 2004

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Am J Med Genet A 2004 Jan;124A(3):280-7

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1002/ajmg.a.20413DOI Listing
January 2004