P. Giampietro

发表

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

C. McCarty, R. Wilke, P. Giampietro, 2005, Personalized medicine.

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

J. Lupski, S. Cheung, Yang Zhao, 2015, The New England journal of medicine.

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

Marianne Berwick, J. Satagopan, P. Giampietro, 2003, Blood.

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

Abnormal vertebral segmentation and the notch signaling pathway in man

B. Alman, O. Pourquié, P. Giampietro, 2007, Developmental dynamics : an official publication of the American Association of Anatomists.

Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome

P. Giampietro, Ulaş Çıkla, M. Başkaya, 2015, NMC case report journal.

Re: Human Papillomavirus DNA and p53 Polymorphisms in Squamous Cell Carcinomas From Fanconi Anemia Patients

J. Satagopan, L. Ben-Porat, A. Huvos, 2004 .

Genetic Aspects of Congenital and Idiopathic Scoliosis

P. Giampietro, 2012, Scientifica.

432: Informed Consent and Subject Motivation to Participate in a Large, Population-Based Genomics Study: The Marshfield Clinic Personalized Medicine Research Project

Catherine A. McCarty, C. McCarty, P. Giampietro, 2005 .

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

J. Satagopan, L. Ben-Porat, A. Huvos, 2003, Journal of the National Cancer Institute.

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

P. Giampietro, D. Bichet, S. Simonetti, 1994, American journal of human genetics.

The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

P. Giampietro, S. Pavlakis, A. Auerbach, 1993, Pediatrics.

Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study.

P. Giampietro, A. Auerbach, P. Verlander, 1997, American journal of medical genetics.

Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

A D Auerbach, P. Giampietro, S. Batish, 1997, Blood.

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

I. Krantz, P. Giampietro, I. Zador, 2008, American journal of medical genetics. Part A.

Can genomic medicine be applied to the management of essential hypertension?

P. Giampietro, 2003, Clinical medicine & research.

Alterations in Bone Mineral Density in Marfan Syndrome and Homocystinuria

P. Giampietro, M. Peterson, C. Raggio, 2008 .

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

P. Giampietro, M. Peterson, O. Boachie-Adjei, 2003, Osteoporosis International.

Marfan syndrome: orthopedic and genetic review

P. Giampietro, Jessica G. Davis, C. Raggio, 2002, Current opinion in pediatrics.

The Incidence of Protrusio Acetabuli in Marfan's Syndrome and Its Relationship to Bone Mineral Density

P. Giampietro, O. Boachie-Adjei, S. Burke, 2000, Journal of pediatric orthopedics.

Mutations in Transforming Growth Factor-&bgr; Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections

S. Shete, D. Milewicz, P. Giampietro, 2005, Circulation.

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

Nephi A. Walton, Yared H. Kidane, T. Druley, 2019, Journal of Medical Genetics.

Healthy People 2010 disease prevalence in the Marshfield Clinic Personalized Medicine Research Project cohort: opportunities for public health genomic research.

C. McCarty, B. Mukesh, R. Wilke, 2007, Personalized medicine.

Clinical geneticists' views of VACTERL/VATER association

D. Tibboel, C. Shaw-Smith, P. Giampietro, 2012, American journal of medical genetics. Part A.

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

P. Giampietro, C. Seroogy, Julie R. Jones, 2013, American journal of medical genetics. Part A.

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation

P. Giampietro, E. McPherson, L. Turner, 2009, American journal of medical genetics. Part A.

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

P. Giampietro, U. Broeckel, M. Pickart, 2012, Molecular Syndromology.

DLL3 as a candidate gene for vertebral malformations

P. Giampietro, R. Pauli, N. Ghebranious, 2006, American Journal of Medical Genetics. Part A.

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

Zhihong Wu, P. Giampietro, G. Qiu, 2018, The Journal of international medical research.

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis

Zhihong Wu, P. Giampietro, X. Ming, 2015, Journal of child neurology.

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

P. Giampietro, J. Laffin, J. Legare, 2017, American journal of medical genetics. Part A.

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

J. Satagopan, L. Ben-Porat, A. Huvos, 2004, Journal of the National Cancer Institute.

TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development

P. Giampietro, D. Sweetser, C. Raggio, 2021, Frontiers in Cell and Developmental Biology.

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

P. Giampietro, O. Boachie-Adjei, R. Pauli, 2007, Scoliosis.

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

P. Giampietro, A. Schneider, Mitchell L. Simon, 2020, American journal of medical genetics. Part A.

Clinical genetics provider real-time workflow study

C. McCarty, P. Giampietro, E. McPherson, 2008, Genetics in Medicine.

Rapid loss of delta-aminolevulinic acid dehydratase activity in primary cultures of adult rat hepatocytes: a new model of zinc deficiency.

P. Giampietro, R. Desnick, P. Guzelian, 1982, Life sciences.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

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

P. Giampietro, 2020, The Journal of pediatrics.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

D. Humphreys, P. Giampietro, S. Dunwoodie, 2022, Differentiation; research in biological diversity.

Robinow syndrome with variable neurologic features

P. Giampietro, E. McPherson, C. Zaleski, 2006, Genetics in Medicine.

TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome

H. Hakonarson, P. Giampietro, Erum A. Hartung, 2022, American journal of medical genetics. Part A.

Analysis of Maternal Risk Factors Associated With Congenital Vertebral Malformations

P. Giampietro, J. Eickhoff, K. Noonan, 2013, Spine.

50 Years Ago in T J P

P. Giampietro, Mark Orland, 2021, Jornal de Pediatria.

Congenital and idiopathic scoliosis: clinical and genetic aspects.

P. Giampietro, S. Shukla, T. Faciszewski, 2003, Clinical medicine & research.

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

J. Shah, J. Satagopan, A. Huvos, 2003, Archives of otolaryngology--head & neck surgery.

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

B. Alman, O. Pourquié, P. Giampietro, 2009, Annals of the New York Academy of Sciences.

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

P. Giampietro, P. Jouk, K. Dieterich, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children

P. Giampietro, F. Rauch, K. Shazand, 2021, Genes.

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

B. Alman, P. Giampietro, Olivier Tassy, 2010, American journal of medical genetics. Part A.

Progress and perspective of TBX6 gene in congenital vertebral malformations

Zhihong Wu, P. Giampietro, G. Qiu, 2016, Oncotarget.

Synteny-defined candidate genes for congenital and idiopathic scoliosis.

P. Giampietro, R. Blank, C. Raggio, 1999, American journal of medical genetics.

Molecular diagnosis of vertebral segmentation disorders in humans.

B. Alman, O. Pourquié, P. Giampietro, 2008, Expert opinion on medical diagnostics.

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes

P. Giampietro, U. Broeckel, L. Armstrong, 2015, American journal of medical genetics. Part A.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations

P. Giampietro, O. Boachie-Adjei, R. Pauli, 2008, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

S. Rezkalla, P. Giampietro, N. Ghebranious, 2007, American journal of medical genetics. Part A.

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

C. Cruchaga, Carlos Cruchaga, P. Giampietro, 2018, Nature Communications.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

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

Zhihong Wu, P. Giampietro, G. Qiu, 2016, Journal of Medical Genetics.

Caudal Regression Syndrome Versus Sirenomelia: A Case Report

P. Giampietro, B. Das, R. Bainbridge, 2002, Journal of Perinatology.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.

S. Paul, P. Giampietro, D. Hadley, 2014, The Journal of pediatrics.

50 Years Ago in T J P

P. Giampietro, 2021, The Journal of Pediatrics.

The Genetics Contributing to Disorders Involving Congenital Scoliosis

P. Giampietro, N. Wu, K. Takeda, 2018 .

Progress in Understanding Genetic Contributions in Syndromic and Non-Syndromic Disorders Associated with Congenital, Neuromuscular, and Idiopathic Scoliosis

P. Giampietro, 2010 .

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Y. Sauve, A. Mushegian, O. Pourquié, 2009, Human molecular genetics.

Extreme Values of Maternal Serum Analytes in Second Trimester Screening: Looking Beyond Trisomy and NTD’s

P. Giampietro, E. McPherson, C. Zaleski, 2011, Journal of Genetic Counseling.

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

P. Giampietro, G. Sekhon, H. Pall, 2020, Molecular genetics & genomic medicine.

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

R. Stevenson, C. Schwartz, P. Giampietro, 2006, Pediatrics.

50 Years Ago in TheJournalofPediatrics: Spectrum of GLI3 Mutations.

P. Giampietro, 2020, The Journal of pediatrics.

50 Years Ago in T J P

P. Giampietro, 2020, The Journal of Pediatrics.

50 Years Ago in T J P

P. Giampietro, 2020, The Journal of Pediatrics.

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

P. Giampietro, 2020, The Journal of pediatrics.

Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department.

P. Giampietro, J. Radhakrishnan, P. Kumar, 2001, Mayo Clinic proceedings.

Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study

J. Greenbaum, P. Giampietro, S. Batish, 2003 .

Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study

J. Greenbaum, P. Giampietro, S. Batish, 2003, Human mutation.

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita

P. Giampietro, K. Shazand, N. Dahan-Oliel, 2021, Genes.

Fetal thoracic measurements in prenatal diagnosis of jeune syndrome

P. Giampietro, B. Das, A. Fayemi, 2002, Indian journal of pediatrics.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

D. Humphreys, P. Giampietro, E. Giannoulatou, 2020, Human molecular genetics.

Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure

P. Giampietro, M. Harbison, P. Brill, 1996, Skeletal Radiology.

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

P. Giampietro, W. Anderson, R. Desnick, 1981, Proceedings of the National Academy of Sciences of the United States of America.

A novel locus for adolescent idiopathic scoliosis on chromosome 12p

J. Weber, S. Dobrin, P. Giampietro, 2009, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Fragile X syndrome in two siblings with major congenital malformations.

R. Kaul, W. Brown, P. Giampietro, 1996, American journal of medical genetics.

PhenX Measures for Phenotyping Rare Genetic Conditions

Carol M. Hamilton, S. Terry, P. Giampietro, 2016, Genetics in Medicine.

Determination of delta-aminolevulinate dehydratase activity by a specific fluorometric coupled-enzyme assay.

P. Giampietro, R. Desnick, 1983, Analytical biochemistry.

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

R. Greenlee, P. Giampietro, R. Berg, 2006, Genetics in Medicine.

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

P. Giampietro, J. Juusola, G. Rice, 2017, American journal of medical genetics. Part A.

A Pilot Study of Gene/Gene and Gene/Environment Interactions in Alzheimer Disease

C. McCarty, B. Mukesh, S. Waring, 2011, Clinical Medicine & Research.

Community consultation and communication for a population‐based DNA biobank: The Marshfield clinic personalized medicine research project

Norman Fost, C. McCarty, P. Giampietro, 2008, American journal of medical genetics. Part A.

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

P. Giampietro, M. Moreno, Erin F Kelleher, 2020, JMIR pediatrics and parenting.

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome

P. Giampietro, B. Roa, D. Schowalter, 2006, Child’s Nervous System.

MANGANESE deficiency.

E. Zackai, G. Reifenberger, T. Dierks, 2022, Journal of the American Veterinary Medical Association.

Informed Consent and Subject Motivation to Participate in a Large, Population-Based Genomics Study: The Marshfield Clinic Personalized Medicine Research Project

Catherine A. McCarty, C. McCarty, P. Giampietro, 2006, Public Health Genomics.

Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry

P. Giampietro, F. Rauch, E. Raney, 2022, BMJ Open.

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

P. Giampietro, J. Hall, 2020, The Journal of pediatrics.

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

Zhihong Wu, P. Giampietro, S. Dunwoodie, 2020, American journal of medical genetics. Part A.

SNPping away at the genetic basis of adolescent idiopathic scoliosis.

P. Giampietro, 2015, Annals of translational medicine.

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas

B. Alman, O. Pourquié, P. Giampietro, 2018, American journal of medical genetics. Part A.

Evaluation of SLC35A3 as a candidate gene for human vertebral malformations

P. Giampietro, N. Ghebranious, E. McPherson, 2006, American journal of medical genetics. Part A.

Use of Synteny Conversion in Identification of Candidate Genes for Somitogenesis in Humans

P. Giampietro, R. Blank, C. Raggio, 2012 .

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

Carlos Cruchaga, P. Giampietro, J. Morcuende, 2018, Nature Communications.

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

P. Giampietro, 2020, The Journal of pediatrics.

CORR Insights®: Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?

P. Giampietro, 2014, Clinical orthopaedics and related research.

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

P. Giampietro, M. Moreno, Erin F Kelleher, 2015, American Journal of Medical Genetics. Part A.

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

P. Giampietro, M. Moreno, Erin F Kelleher, 2019 .

A genomic approach to scoliosis pathogenesis

P. Giampietro, N. Camacho, R. Blank, 1999, Lupus.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

The role of cigarette smoking and statins in the development of postmenopausal osteoporosis: a pilot study utilizing the Marshfield Clinic Personalized Medicine Cohort

Terrie E. Kitchner, B. Mukesh, P. Giampietro, 2010, Osteoporosis International.

50 Years Ago in T J P

P. Giampietro, 2019, The Journal of Pediatrics.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

An analysis of PAX1 in the development of vertebral malformations

J. Weber, P. Giampietro, R. Pauli, 2005, Clinical genetics.

MECP2 duplication: Possible cause of severe phenotype in females

P. Giampietro, G. Raca, M. Friez, 2014, American journal of medical genetics. Part A.

New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia.

P. Giampietro, A. Auerbach, E. Elias, 1998, American journal of medical genetics.

Mesangiocapillary glomerulonephritis.

E. Zackai, I. Harting, B. McGuinness, 1992, Journal of the American Society of Nephrology : JASN.

Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity

B. Dave, P. Giampietro, Deepti Babu, 2006, American journal of medical genetics. Part A.

FANCONI ANEMIA: A MODEL FOR GENETIC CAUSES OF ABNORMAL BRAIN DEVELOPMENT

P. Giampietro, S. Pavlakis, A. Auerbach, 1992, Developmental medicine and child neurology.

Bone Mineral Density Determinations by Dual-Energy x-ray Absorptiometry in the Management of Patients with Marfan Syndrome—Some Factors Which Affect the Measurement

P. Giampietro, M. Peterson, O. Boachie-Adjei, 2007, HSS Journal.

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

P. Giampietro, M. Moreno, Erin F Kelleher, 2019 .

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

C. McCarty, R. Wilke, P. Giampietro, 2005, Personalized medicine.

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

P. Giampietro, M. Moreno, Erin F Kelleher, 2020, JMIR pediatrics and parenting.

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

P. Giampietro, M. Moreno, Erin F Kelleher, 2015, American journal of medical genetics. Part A.

A novel locus for adolescent idiopathic scoliosis on chromosome 12p

J. Weber, S. Dobrin, P. Giampietro, 2009, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Micronutrient Deficiencies

T. Dierks, I. Harting, J. Hellemans, 2010 .

Clinical genetics provider real-time workflow study

P. Giampietro, K. Benishek, Kara K. Reynolds, 2008, Genetics in Medicine.