Publications by authors named "Philip Giampietro"

76Publications

Social Media Use Among Young Adults With Connective Tissue Disorders: Cross-Sectional Pilot Study.

JMIR Pediatr Parent 2020 Oct 30;3(2):e16367. Epub 2020 Oct 30.

Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, United States.

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http://dx.doi.org/10.2196/16367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665944PMC
October 2020

50 Years Ago in The Journal of Pediatrics: Tolubtamide-Mediated Dysregulation of Apoptosis.

J Pediatr 2020 Sep;224:71

Division of Medical Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2020.02.045DOI Listing
September 2020

50 Years Ago in TheJournalofPediatrics: Clinical and Genetic Delineation of Saethre-Chotzen Syndrome.

J Pediatr 2020 08;223:107

Division of Medical Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2020.02.012DOI Listing
August 2020

50 Years Ago in TheJournalofPediatrics: Spectrum of GLI3 Mutations.

J Pediatr 2020 07;222:27

Division of Pediatric Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2019.12.042DOI Listing
July 2020

50 Years Ago in The Journal of Pediatrics: Hand-Foot-Genital Syndrome and Its Multiple Genetic Mechanisms.

J Pediatr 2020 07;222:185

Division of Medical Genetics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2020.01.038DOI Listing
July 2020

50 Years Ago in TheJournalofPediatrics: Understanding the Genetic Basis of Frontonasal Dysplasia.

J Pediatr 2020 06;221:80

Division of Pediatric Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2019.12.014DOI Listing
June 2020

50 Years Ago in TheJournalofPediatrics: "CatEye Syndrome" and the Unraveling of the 22q.11.2 Genomic Region.

J Pediatr 2020 04;219:88

Division of Pediatric Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2019.10.005DOI Listing
April 2020

50 Years Ago in TheJournalofPediatrics: Neurofibromatosis in Childhood.

J Pediatr 2020 03;218:27

Division of Clinical Genetics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2019.09.033DOI Listing
March 2020

50 Years Ago in TheJournalofPediatrics: Arthrogryposis Multiplex Congenita: A Clinical Investigation.

J Pediatr 2020 02;217:72

Emerita Professor of Pediatrics, University of British Columbia, Vancouver, British Columbia.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.022DOI Listing
February 2020

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

Mol Genet Genomic Med 2020 03 17;8(3):e1078. Epub 2020 Jan 17.

Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

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http://dx.doi.org/10.1002/mgg3.1078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057127PMC
March 2020

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.

Am J Med Genet A 2020 04 5;182(4):798-803. Epub 2020 Jan 5.

Division of General Diagnostic Radiology and the Section of Pediatric Radiology, Rutgers-Robert Wood Johnson Hospital, New Brunswick, New Jersey.

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http://dx.doi.org/10.1002/ajmg.a.61465DOI Listing
April 2020

50 Years Ago in TheJournal ofPediatrics: Cerebral Gigantism: Concentrations of Amino Acids in Plasma and Muscle.

J Pediatr 2020 01;216:43

Division of Medical Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

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http://dx.doi.org/10.1016/j.jpeds.2019.07.036DOI Listing
January 2020

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.

Am J Med Genet C Semin Med Genet 2019 09 1;181(3):337-344. Epub 2019 Aug 1.

Robert Wood Johnson School of Medicine, Rutgers University, New Brunswick, New Jersey, USA.

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http://dx.doi.org/10.1002/ajmg.c.31730DOI Listing
September 2019

50 Years Ago in The Journal of Pediatrics: A Chromosome Survey of 2400 Normal Newborn Infants.

J Pediatr 2019 Mar;206:25

St. Christopher's Hospital for Children Department of Pediatrics Section of Clinical Genetics Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.jpeds.2018.09.001DOI Listing
March 2019

50 Years Ago in The Journal of Pediatrics: A Chromosome Survey of Unselected Live-Born Children with Congenital Abnormalities.

J Pediatr 2019 Mar;206:231

Section of Clinical Genetics St. Christopher's Hospital for Children Drexel University College of Medicine Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.jpeds.2018.09.050DOI Listing
March 2019

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.

J Int Med Res 2018 Jun 5;46(6):2445-2457. Epub 2018 Apr 5.

1 Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, PR China.

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http://dx.doi.org/10.1177/0300060517747164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023048PMC
June 2018

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Am J Med Genet A 2017 Oct 17;173(10):2776-2781. Epub 2017 Aug 17.

Drexel University College of Medicine, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.38379
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http://dx.doi.org/10.1002/ajmg.a.38379DOI Listing
October 2017

Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.

Am J Med Genet A 2017 Oct 17;173(10):2808-2813. Epub 2017 Aug 17.

Drexel University College of Medicine, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38395DOI Listing
October 2017

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.

J Med Genet 2016 07 15;53(7):431-7. Epub 2016 Apr 15.

Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2015-103554
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http://dx.doi.org/10.1136/jmedgenet-2015-103554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941148PMC
July 2016

Marfan syndrome patient experiences as ascertained through postings on social media sites.

Am J Med Genet A 2015 Nov 14;167A(11):2629-34. Epub 2015 Aug 14.

Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37255DOI Listing
November 2015

SNPping away at the genetic basis of adolescent idiopathic scoliosis.

Ann Transl Med 2015 May;3(Suppl 1):S26

Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA.

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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.02.34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437945PMC
May 2015

Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome.

NMC Case Rep J 2015 Jul 20;2(3):85-87. Epub 2015 Feb 20.

Department of Neurological Surgery, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA.

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http://dx.doi.org/10.2176/nmccrj.2014-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364889PMC
July 2015

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

J Child Neurol 2015 Sep 14;30(10):1357-61. Epub 2014 Oct 14.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P. R. China

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http://dx.doi.org/10.1177/0883073814552438DOI Listing
September 2015

CORR Insights ®: Are copy number variants associated with adolescent idiopathic scoliosis?

Clin Orthop Relat Res 2014 Oct 29;472(10):3226-7. Epub 2014 Jul 29.

Department of Pediatrics, University of Wisconsin-Madison, 1500 Highland Avenue, Waisman Center, Room 351, Madison, WI, 53705-9345, USA,

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http://dx.doi.org/10.1007/s11999-014-3807-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4160505PMC
October 2014

Heterozygous mutations in the T (brachyury) gene.

J Med Genet 2014 May 20;51(5):354. Epub 2014 Feb 20.

Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102308
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http://dx.doi.org/10.1136/jmedgenet-2014-102308DOI Listing
May 2014

MECP2 duplication: possible cause of severe phenotype in females.

Am J Med Genet A 2014 Apr 23;164A(4):1029-34. Epub 2014 Jan 23.

Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.

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http://dx.doi.org/10.1002/ajmg.a.36380DOI Listing
April 2014

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.

Am J Med Genet A 2013 Jun 23;161A(6):1432-5. Epub 2013 Apr 23.

Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin 53705-9345, USA.

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http://dx.doi.org/10.1002/ajmg.a.35885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484633PMC
June 2013

Clinical geneticists' views of VACTERL/VATER association.

Am J Med Genet A 2012 Dec 19;158A(12):3087-100. Epub 2012 Nov 19.

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507421PMC
December 2012

Genetic aspects of congenital and idiopathic scoliosis.

Scientifica (Cairo) 2012 31;2012:152365. Epub 2012 Dec 31.

Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI 53705, USA.

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http://dx.doi.org/10.6064/2012/152365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820596PMC
November 2013

A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.

Clin Med Res 2011 Mar 3;9(1):17-25. Epub 2010 Aug 3.

Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.

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http://www.clinmedres.org/cgi/doi/10.3121/cmr.2010.894
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http://dx.doi.org/10.3121/cmr.2010.894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064752PMC
March 2011

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.

Am J Med Genet A 2010 Jun;152A(6):1357-71

Department of Radiology, Great Ormond Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.33361DOI Listing
June 2010

A novel locus for adolescent idiopathic scoliosis on chromosome 12p.

J Orthop Res 2009 Oct;27(10):1366-72

Department of Pediatric Orthopedics, Hospital for Special Surgery, 535 East 70th Street, New York, New York 10021, USA.

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http://doi.wiley.com/10.1002/jor.20885
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http://dx.doi.org/10.1002/jor.20885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120267PMC
October 2009

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

Am J Med Genet A 2009 Feb;149A(4):567-72

Department of Medical Genetics, Marshfield Clinic, Marshfield, Wisconsin 54449, USA.

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http://dx.doi.org/10.1002/ajmg.a.32627DOI Listing
February 2009

Community consultation and communication for a population-based DNA biobank: the Marshfield clinic personalized medicine research project.

Am J Med Genet A 2008 Dec;146A(23):3026-33

Marshfield Clinic Research Foundation, Center for Human Genetics, Marshfield, Wisconsin 54449, USA.

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http://dx.doi.org/10.1002/ajmg.a.32559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588646PMC
December 2008

Clinical genetics provider real-time workflow study.

Genet Med 2008 Sep;10(9):699-706

Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA.

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http://dx.doi.org/10.1097/gim.0b013e318182206fDOI Listing
September 2008

Molecular diagnosis of vertebral segmentation disorders in humans.

Expert Opin Med Diagn 2008 Oct;2(10):1107-21

Marshfield Clinic, Department of Genetic Services, 1000 N. Oak Avenue, Marshfield, WI 54449, USA +1 715 221 7410 ; +1 715 389 4399 ;

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http://dx.doi.org/10.1517/17530059.2.10.1107DOI Listing
October 2008

Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism.

Am J Med Genet A 2008 Jan;146A(2):261-3

Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA.

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http://dx.doi.org/10.1002/ajmg.a.32110DOI Listing
January 2008

Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.

Scoliosis 2007 Sep 23;2:13. Epub 2007 Sep 23.

University of Wisconsin Medical School, Madison, Wisconsin, USA and Geriatrics Research, Education, and Clinical Center, William S, Middleton Veterans Administration Medical Center, Madison, Wisconsin, USA.

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http://dx.doi.org/10.1186/1748-7161-2-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2064903PMC
September 2007

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation.

Am J Med Genet A 2007 Jul;143A(13):1462-71

Molecular Diagnostics Genotyping Laboratory, Marshfield Clinic, 1000 North Oak Avenue, Marshfield, WI 54449, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31837
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http://dx.doi.org/10.1002/ajmg.a.31837DOI Listing
July 2007

Abnormal vertebral segmentation and the notch signaling pathway in man.

Dev Dyn 2007 Jun;236(6):1456-74

Clinical Genetics, Royal Devon & Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom.

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http://dx.doi.org/10.1002/dvdy.21182DOI Listing
June 2007

Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area.

Genet Med 2006 Aug;8(8):474-90

Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA.

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http://dx.doi.org/10.1097/01.gim.0000232479.90268.40DOI Listing
August 2006

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

Marshfield Clinic Personalized Medicine Research Project (PMRP): design, methods and recruitment for a large population-based biobank.

Per Med 2005 Mar;2(1):49-79

Marshfield Clinic Research Foundation , Center for Human Genetics, 1000 N. Oak Ave. (ML1), Marshfield, WI 54449, USA Tel; Fax; E-mail: mccarty.catherine

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http://dx.doi.org/10.1517/17410541.2.1.49DOI Listing
March 2005

Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.

J Natl Cancer Inst 2003 Nov;95(22):1718-21

Laboratory of Epithelial Cancer Biology, Division of Head and Neck Surgery, Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.

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http://dx.doi.org/10.1093/jnci/djg091DOI Listing
November 2003

Assessment of bone mineral density in adults and children with Marfan syndrome.

Osteoporos Int 2003 Jul 3;14(7):559-63. Epub 2003 Jul 3.

Division of Genetics, Department of Pediatrics, Weill Medical College of Cornell University, New York, N.Y., USA.

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http://dx.doi.org/10.1007/s00198-003-1433-0DOI Listing
July 2003

High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia.

Arch Otolaryngol Head Neck Surg 2003 Jan;129(1):106-12

Division of Head and Neck Surgery, Department of Surgery, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA.

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http://dx.doi.org/10.1001/archotol.129.1.106DOI Listing
January 2003

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

Blood 2003 Feb 26;101(4):1249-56. Epub 2002 Sep 26.

Memorial Sloan-Kettering Cancer Center, New York, NY, USA.

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http://dx.doi.org/10.1182/blood-2002-07-2170DOI Listing
February 2003

Caudal regression syndrome versus sirenomelia: a case report.

J Perinatol 2002 Mar;22(2):168-70

Department of Pediatrics, Lincoln Medical and Mental Health Center, 234 East 149th Street, The Bronx, NY 10451, USA.

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http://dx.doi.org/10.1038/sj.jp.7210598DOI Listing
March 2002

Marfan syndrome: orthopedic and genetic review.

Curr Opin Pediatr 2002 Feb;14(1):35-41

Division of Genetics, Department of Pediatrics, Weill Medical College of Cornell University, USA.

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http://dx.doi.org/10.1097/00008480-200202000-00006DOI Listing
February 2002

Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome.

Indian J Pediatr 2002 Jan;69(1):101-3

Department of Pediatrics, Lincoln Medical and Mental Health Center, IL, USA.

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http://dx.doi.org/10.1007/BF02723787DOI Listing
January 2002