Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 62

1.

Blood pressure in adults with short stature skeletal dysplasias.

Hoover-Fong J, Alade AY, Ain M, Berkowitz I, Bober M, Carter E, Hecht J, Hoerschemeyer D, Krakow D, MacCarrick G, Mackenzie WG, Mendoza R, Okenfuss E, Popplewell D, Raggio C, Schulze K, McGready J.

Am J Med Genet A. 2019 Nov 15. doi: 10.1002/ajmg.a.61402. [Epub ahead of print]

PMID:
31729121
2.

Acetabular Protrusio in Patients With Osteogenesis Imperfecta: Risk Factors and Progression.

Ahn J, Carter E, Raggio CL, Green DW.

J Pediatr Orthop. 2019 Nov/Dec;39(10):e750-e754. doi: 10.1097/BPO.0000000000001051.

PMID:
31599861
3.

Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients.

Bronheim R, Khan S, Carter E, Sandhaus RA, Raggio C.

Spine (Phila Pa 1976). 2019 Aug 1;44(15):1057-1063. doi: 10.1097/BRS.0000000000003012.

PMID:
31335789
4.

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.

Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC, Raggio CL.

JBMR Plus. 2019 Jan 7;3(5):e10118. doi: 10.1002/jbm4.10118. eCollection 2019 May.

5.

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.

6.

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium.

Genet Med. 2019 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30.

PMID:
30696995
7.

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.

PMID:
30636772
8.

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.

9.

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium.

Am J Obstet Gynecol. 2018 Dec;219(6):545-562. doi: 10.1016/j.ajog.2018.07.017. Epub 2018 Jul 23. Review.

PMID:
30048634
10.

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.

11.

Best practices in peri-operative management of patients with skeletal dysplasias.

White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC; Skeletal Dysplasia Management Consortium.

Am J Med Genet A. 2017 Oct;173(10):2584-2595. doi: 10.1002/ajmg.a.38357. Epub 2017 Aug 1.

PMID:
28763154
12.

Acetabular Protrusio in Patients With Osteogenesis Imperfecta: Risk Factors and Progression.

Ahn J, Carter E, Raggio CL, Green DW.

J Pediatr Orthop. 2017 Jul 7. doi: 10.1097/BPO.0000000000001051. [Epub ahead of print]

PMID:
28692452
13.

Bone robusticity in two distinct skeletal dysplasias diverges from established patterns.

Citron K, Veneziale C, Marino J, Carter EM, Jepsen KJ, Raggio C.

J Orthop Res. 2017 Nov;35(11):2392-2396. doi: 10.1002/jor.23543. Epub 2017 May 4.

14.

The Effect of Stontium Ranelate on Fracture Reduction in Osteogenesis Imperfecta is Comparable to Recent Bisphosphonate Data.

Raggio CL, Pleshko N, Boskey AL.

J Bone Miner Res. 2016 Nov;31(11):2065. doi: 10.1002/jbmr.2976. Epub 2016 Sep 7. No abstract available.

15.

Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging.

Ashinsky BG, Fishbein KW, Carter EM, Lin PC, Pleshko N, Raggio CL, Spencer RG.

PLoS One. 2016 Jul 14;11(7):e0157891. doi: 10.1371/journal.pone.0157891. eCollection 2016.

16.

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.

Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, Chang W, Smith PA, Roschger P, Klaushofer K, Glorieux FH, Eyre DR, Raggio C, Rauch F, Marini JC.

J Clin Endocrinol Metab. 2016 Sep;101(9):3516-25. doi: 10.1210/jc.2016-1334. Epub 2016 Jul 6.

17.

Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?".

White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M.

Am J Med Genet A. 2016 Apr;170A(4):1101-3. doi: 10.1002/ajmg.a.37546. Epub 2016 Jan 11. No abstract available.

PMID:
26754314
18.

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.

White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R.

Am J Med Genet A. 2016 Jan;170A(1):42-51. doi: 10.1002/ajmg.a.37394. Epub 2015 Sep 23.

PMID:
26394886
19.

Are Changes in Composition in Response to Treatment of a Mouse Model of Osteogenesis Imperfecta Sex-dependent?

Boskey AL, Marino J, Spevak L, Pleshko N, Doty S, Carter EM, Raggio CL.

Clin Orthop Relat Res. 2015 Aug;473(8):2587-98. doi: 10.1007/s11999-015-4268-z.

20.

Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta.

Drefus LC, Cassady S, Raggio CL.

HSS J. 2015 Feb;11(1):84-9. doi: 10.1007/s11420-014-9429-1. Epub 2015 Jan 27. No abstract available.

21.

Acetabular Protrusio and Proximal Femur Fractures in Patients With Osteogenesis Imperfecta.

Trehan SK, Morakis E, Raggio CL, Twomey KD, Green DW.

J Pediatr Orthop. 2015 Sep;35(6):645-9. doi: 10.1097/BPO.0000000000000343.

PMID:
25379829
22.

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.

PMID:
25348728
23.

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.

PMID:
24556085
24.

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.

25.

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

Bishop N, Adami S, Ahmed SF, Antón J, Arundel P, Burren CP, Devogelaer JP, Hangartner T, Hosszú E, Lane JM, Lorenc R, Mäkitie O, Munns CF, Paredes A, Pavlov H, Plotkin H, Raggio CL, Reyes ML, Schoenau E, Semler O, Sillence DO, Steiner RD.

Lancet. 2013 Oct 26;382(9902):1424-32. doi: 10.1016/S0140-6736(13)61091-0. Epub 2013 Aug 6.

PMID:
23927913
26.

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.

27.

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.

28.

Second-harmonic generation circular dichroism studies of osteogenesis imperfecta.

Chen X, Raggio C, Campagnola PJ.

Opt Lett. 2012 Sep 15;37(18):3837-9.

29.

High- and low-dose OPG-Fc cause osteopetrosis-like changes in infant mice.

Bargman R, Posham R, Boskey A, Carter E, DiCarlo E, Verdelis K, Raggio C, Pleshko N.

Pediatr Res. 2012 Nov;72(5):495-501. doi: 10.1038/pr.2012.118. Epub 2012 Aug 27.

30.

A review of the literature on chiropractic and insomnia.

Kingston J, Raggio C, Spencer K, Stalaker K, Tuchin PJ.

J Chiropr Med. 2010 Sep;9(3):121-6. doi: 10.1016/j.jcm.2010.03.003.

31.

Comparable outcomes in fracture reduction and bone properties with RANKL inhibition and alendronate treatment in a mouse model of osteogenesis imperfecta.

Bargman R, Posham R, Boskey AL, DiCarlo E, Raggio C, Pleshko N.

Osteoporos Int. 2012 Mar;23(3):1141-50. doi: 10.1007/s00198-011-1742-7. Epub 2011 Sep 8.

32.

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.

Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC.

N Engl J Med. 2010 Feb 11;362(6):521-8. doi: 10.1056/NEJMoa0907705. Epub 2010 Jan 20.

33.

RANKL inhibition improves bone properties in a mouse model of osteogenesis imperfecta.

Bargman R, Huang A, Boskey AL, Raggio C, Pleshko N.

Connect Tissue Res. 2010 Apr;51(2):123-31. doi: 10.3109/03008200903108472.

34.

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.

35.

Genetic and orthopedic aspects of collagen disorders.

Carter EM, Raggio CL.

Curr Opin Pediatr. 2009 Feb;21(1):46-54. Review.

PMID:
19253462
36.

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.

PMID:
19154516
37.
38.

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.

PMID:
23496422
39.

The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias: an interdisciplinary approach.

Carter EM, Montuori L, Davis JG, Raggio CL.

HSS J. 2008 Sep;4(2):112-6. doi: 10.1007/s11420-008-9076-5. Epub 2008 May 28.

40.

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.

41.

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.

42.

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

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

Scoliosis. 2007 Sep 23;2:13.

43.

Advances in understanding etiology of achondroplasia and review of management.

Carter EM, Davis JG, Raggio CL.

Curr Opin Pediatr. 2007 Feb;19(1):32-7. Review.

PMID:
17224659
44.

Sexual dimorphism in adolescent idiopathic scoliosis.

Raggio CL.

Orthop Clin North Am. 2006 Oct;37(4):555-8. Review.

PMID:
17141012
45.

DLL3 as a candidate gene for vertebral malformations.

Giampietro PF, Raggio CL, Reynolds C, Ghebranious N, Burmester JK, Glurich I, Rasmussen K, McPherson E, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T, Blank RD.

Am J Med Genet A. 2006 Nov 15;140(22):2447-53.

PMID:
17041936
46.

Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.

Ghebranious N, Burmester JK, Glurich I, McPherson E, Ivacic L, Kislow J, Rasmussen K, Kumar V, Raggio CL, Blank RD, Jacobsen FS, Faciszewski T, Womack J, Giampietro PF.

Am J Med Genet A. 2006 Jun 15;140(12):1346-8. No abstract available.

PMID:
16691598
47.

An analysis of PAX1 in the development of vertebral malformations.

Giampietro PF, Raggio CL, Reynolds CE, Shukla SK, McPherson E, Ghebranious N, Jacobsen FS, Kumar V, Faciszewski T, Pauli RM, Rasmussen K, Burmester JK, Zaleski C, Merchant S, David D, Weber JL, Glurich I, Blank RD.

Clin Genet. 2005 Nov;68(5):448-53.

PMID:
16207213
48.

Congenital and idiopathic scoliosis: clinical and genetic aspects.

Giampietro PF, Blank RD, Raggio CL, Merchant S, Jacobsen FS, Faciszewski T, Shukla SK, Greenlee AR, Reynolds C, Schowalter DB.

Clin Med Res. 2003 Apr;1(2):125-36. Review.

49.

Differential effects of alendronate treatment on bone from growing osteogenesis imperfecta and wild-type mouse.

Misof BM, Roschger P, Baldini T, Raggio CL, Zraick V, Root L, Boskey AL, Klaushofer K, Fratzl P, Camacho NP.

Bone. 2005 Jan;36(1):150-8.

PMID:
15664013
50.

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

Giampietro PF, Peterson M, Schneider R, Davis JG, Raggio C, Myers E, Burke SW, Boachie-Adjei O, Mueller CM.

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

PMID:
12845424

Supplemental Content

Loading ...
Support Center