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

Dieterich K, Le Tanno P, Kimber E, Jouk PS, Hall J, Giampietro P.

Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):337-344. doi: 10.1002/ajmg.c.31730. Epub 2019 Aug 1.


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

Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA.

J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25.


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

Giampietro PF.

J Pediatr. 2019 Mar;206:25. doi: 10.1016/j.jpeds.2018.09.001. No abstract available.


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

Giampietro PF.

J Pediatr. 2019 Mar;206:231. doi: 10.1016/j.jpeds.2018.09.050. No abstract available.


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

Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G.

Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14.


A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.

Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, Whittle J, Upshaw Z, Shin J, Baschal E, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise C, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA.

Nat Commun. 2018 Oct 9;9(1):4171. doi: 10.1038/s41467-018-06705-0.


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

Liu Z, Liu J, Liu G, Cao W, Liu S, Chen Y, Zuo Y, Chen W, Chen J, Zhang Y, Huang S, Qiu G, Giampietro PF, Zhang F, Wu Z, Wu N.

J Int Med Res. 2018 Jun;46(6):2445-2457. doi: 10.1177/0300060517747164. Epub 2018 Apr 5. Review.


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.

Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA.

Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21.


Oral immunotherapy in children with IgE-mediated hen's egg allergy: Follow-ups at 2.5 and 7 years.

Meglio P, Giampietro PG, Carello R, Galli E.

Allergy Rhinol (Providence). 2017 Oct 1;8(3):157-169. doi: 10.2500/ar.2017.8.0211.


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

Reynolds KK, Juusola J, Rice GM, Giampietro PF.

Am J Med Genet A. 2017 Oct;173(10):2776-2781. doi: 10.1002/ajmg.a.38379. Epub 2017 Aug 17.


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

Legare JM, Seaborg K, Laffin J, Giampietro PF.

Am J Med Genet A. 2017 Oct;173(10):2808-2813. doi: 10.1002/ajmg.a.38395. Epub 2017 Aug 17.


PhenX measures for phenotyping rare genetic conditions.

Phillips M, Grant T, Giampietro P, Bodurtha J, Valdez R, Maiese DR, Hendershot T, Terry SF, Hamilton CM.

Genet Med. 2017 Jul;19(7):834-837. doi: 10.1038/gim.2016.199. Epub 2017 Jan 12.


Progress and perspective of TBX6 gene in congenital vertebral malformations.

Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z.

Oncotarget. 2016 Aug 30;7(35):57430-57441. doi: 10.18632/oncotarget.10619. Review.


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

Chen Y, Liu Z, Chen J, Zuo Y, Liu S, Chen W, Liu G, Qiu G, Giampietro PF, Wu N, Wu Z.

J Med Genet. 2016 Jul;53(7):431-7. doi: 10.1136/jmedgenet-2015-103554. Epub 2016 Apr 15. Review.


CHOP Chemotherapy Followed by Tositumomab and Iodine-131 Tositumomab for Previously Untreated Diffuse Large B-cell Lymphoma.

Leonard JP, Gregory SA, Smith H, Horner TJ, Williams VC, Giampietro P, Lin TS.

Clin Lymphoma Myeloma Leuk. 2016 Apr;16(4):191-6. doi: 10.1016/j.clml.2015.12.011. Epub 2016 Jan 4.


Long-term follow-up of previously treated and treatment-naïve patients who received tositumomab and I-131 tositumomab.

Horner TJ, Williams VC, Giampietro P, Witman PA, Lin TS.

Leuk Lymphoma. 2016 May;57(5):1238-40. doi: 10.3109/10428194.2015.1082179. Epub 2015 Dec 23. No abstract available.


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

Kelleher E, Giampietro PF, Moreno MA.

Am J Med Genet A. 2015 Nov;167A(11):2629-34. doi: 10.1002/ajmg.a.37255. Epub 2015 Aug 14.


SNPping away at the genetic basis of adolescent idiopathic scoliosis.

Giampietro PF.

Ann Transl Med. 2015 May;3(Suppl 1):S26. doi: 10.3978/j.issn.2305-5839.2015.02.34.


Serum Vitamin D levels and Vitamin D supplementation do not correlate with the severity of chronic eczema in children.

Galli E, Rocchi L, Carello R, Giampietro PG, Panei P, Meglio P.

Eur Ann Allergy Clin Immunol. 2015 Mar;47(2):41-7.


Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome.

Cıkla U, Giampietro PF, Sadighi A, Başkaya MK.

NMC Case Rep J. 2015 Feb 20;2(3):85-87. doi: 10.2176/nmccrj.2014-0022. eCollection 2015 Jul.


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

Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F.

N Engl J Med. 2015 Jan 22;372(4):341-50. doi: 10.1056/NEJMoa1406829. Epub 2015 Jan 7.


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

Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U.

Am J Med Genet A. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27.


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

Liu S, Wu N, Liu J, Ming X, Chen J, Pavelec D, Su X, Qiu G, Tian Y, Giampietro P, Wu Z.

J Child Neurol. 2015 Sep;30(10):1357-61. doi: 10.1177/0883073814552438. Epub 2014 Oct 14.


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

Giampietro PF.

Clin Orthop Relat Res. 2014 Oct;472(10):3226-7. doi: 10.1007/s11999-014-3807-3. Epub 2014 Jul 29. No abstract available.


Patients with relapsed follicular lymphoma treated with rituximab versus tositumomab and iodine I-131 tositumomab.

Quackenbush RC, Horner TJ, Williams VC, Giampietro P, Lin TS.

Leuk Lymphoma. 2015 Mar;56(3):779-81. doi: 10.3109/10428194.2014.927461. Epub 2014 Jul 23. No abstract available.


Heterozygous mutations in the T (brachyury) gene.

Giampietro PF, Raggio CL, Blank RD.

J Med Genet. 2014 May;51(5):354. doi: 10.1136/jmedgenet-2014-102308. Epub 2014 Feb 20. No abstract available.


MECP2 duplication: possible cause of severe phenotype in females.

Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF.

Am J Med Genet A. 2014 Apr;164A(4):1029-34. doi: 10.1002/ajmg.a.36380. Epub 2014 Jan 23.


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.

Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N.

J Pediatr. 2014 Mar;164(3):451-7.e1. doi: 10.1016/j.jpeds.2013.10.086. Epub 2013 Dec 12. Review. No abstract available.


Clinical, genetic and environmental factors associated with congenital vertebral malformations.

Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA.

Mol Syndromol. 2013 Feb;4(1-2):94-105. doi: 10.1159/000345329.


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

Giampietro PF, Baker MW, Basehore MJ, Jones JR, Seroogy CM.

Am J Med Genet A. 2013 Jun;161A(6):1432-5. doi: 10.1002/ajmg.a.35885. Epub 2013 Apr 23.


Analysis of maternal risk factors associated with congenital vertebral malformations.

Hesemann J, Lauer E, Ziska S, Noonan K, Nemeth B, Scott-Schwoerer J, McCarty C, Rasmussen K, Goldberg JM, Sund S, Eickhoff J, Raggio CL, Giampietro PF.

Spine (Phila Pa 1976). 2013 Mar 1;38(5):E293-8. doi: 10.1097/BRS.0b013e318283be6e.


Clinical geneticists' views of VACTERL/VATER association.

Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF.

Am J Med Genet A. 2012 Dec;158A(12):3087-100. doi: 10.1002/ajmg.a.35638. Epub 2012 Nov 19. Review.


Oral food desensitization in children with IgE-mediated hen's egg allergy: a new protocol with raw hen's egg.

Meglio P, Giampietro PG, Carello R, Gabriele I, Avitabile S, Galli E.

Pediatr Allergy Immunol. 2013 Feb;24(1):75-83. doi: 10.1111/j.1399-3038.2012.01341.x. Epub 2012 Aug 13.


Genetic aspects of congenital and idiopathic scoliosis.

Giampietro PF.

Scientifica (Cairo). 2012;2012:152365. doi: 10.6064/2012/152365. Epub 2012 Dec 31. Review.


Oral desensitisation with food is food-specific and protein-specific.

Meglio P, Giampietro PG, Gabriele I, Carello R, Avitabile S, Galli E.

Int J Immunopathol Pharmacol. 2011 Jul-Sep;24(3):803-11.


Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD's.

McPherson E, Thomas GD, Manlick C, Zaleski CA, Reynolds KK, Rasmussen K, Giampietro PF, Wiley C, Mascola M.

J Genet Couns. 2011 Aug;20(4):396-403. doi: 10.1007/s10897-011-9364-y. Epub 2011 Apr 20.


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

Ghebranious N, Mukesh B, Giampietro PF, Glurich I, Mickel SF, Waring SC, McCarty CA.

Clin Med Res. 2011 Mar;9(1):17-25. doi: 10.3121/cmr.2010.894. Epub 2010 Aug 3.


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

Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, Wade A, Turnpenny PD; ICVAS (International Consortium for Vertebral Anomalies and Scoliosis).

Am J Med Genet A. 2010 Jun;152A(6):1357-71. doi: 10.1002/ajmg.a.33361.


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

Giampietro PF, McCarty C, Mukesh B, McKiernan F, Wilson D, Shuldiner A, Liu J, LeVasseur J, Ivacic L, Kitchner T, Ghebranious N.

Osteoporos Int. 2010 Mar;21(3):467-77. doi: 10.1007/s00198-009-0981-3. Epub 2009 Jun 9. Review.


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

Raggio CL, Giampietro PF, Dobrin S, Zhao C, Dorshorst D, Ghebranious N, Weber JL, Blank RD.

J Orthop Res. 2009 Oct;27(10):1366-72. doi: 10.1002/jor.20885.


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

McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF.

Am J Med Genet A. 2009 Feb 15;149A(4):567-72. doi: 10.1002/ajmg.a.32627.


Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.

Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD.

Ann N Y Acad Sci. 2009 Jan;1151:38-67. doi: 10.1111/j.1749-6632.2008.03452.x. Review.


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

Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6.


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

McCarty CA, Chapman-Stone D, Derfus T, Giampietro PF, Fost N; Marshfield Clinic PMRP Community Advisory Group.

Am J Med Genet A. 2008 Dec 1;146A(23):3026-33. doi: 10.1002/ajmg.a.32559.


Clinical genetics provider real-time workflow study.

McPherson E, Zaleski C, Benishek K, McCarty CA, Giampietro PF, Reynolds K, Rasmussen K.

Genet Med. 2008 Sep;10(9):699-706. doi: 10.1097GIM.0b013e318182206f.


Molecular diagnosis of vertebral segmentation disorders in humans.

Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD.

Expert Opin Med Diagn. 2008 Oct;2(10):1107-21. doi: 10.1517/17530059.2.10.1107.


Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome--some factors which affect the measurement.

Giampietro PF, Peterson MG, Schneider R, Davis JG, Burke SW, Boachie-Adjei O, Mueller CM, Raggio CL.

HSS J. 2007 Feb;3(1):89-92. doi: 10.1007/s11420-006-9030-3.


A missense T (Brachyury) mutation contributes to vertebral malformations.

Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, Pauli RM, Boachie-Adjei O, Glurich I, Giampietro PF.

J Bone Miner Res. 2008 Oct;23(10):1576-83. doi: 10.1359/jbmr.080503.


Oral desensitization in children with immunoglobulin E-mediated cow's milk allergy--follow-up at 4 yr and 8 months.

Meglio P, Giampietro PG, Gianni S, Galli E.

Pediatr Allergy Immunol. 2008 Aug;19(5):412-9. doi: 10.1111/j.1399-3038.2007.00670.x. Epub 2008 Jan 22.


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

Rasmussen KJ, Zador I, Zabel C, Krantz ID, Giampietro PF.

Am J Med Genet A. 2008 Jan 15;146A(2):261-3. No abstract available.


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