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Items: 1 to 50 of 238

1.

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

Chen Y, Gilbert MA, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M.

PLoS Genet. 2018 Aug 13;14(8):e1007532. doi: 10.1371/journal.pgen.1007532. [Epub ahead of print]

2.

Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.

Wang Y, Gray DR, Robbins AK, Crowgey EL, Chanock SJ, Greene MH, McGlynn KA, Nathanson K, Turnbull C, Wang Z, Devoto M, Barthold JS; Testicular Cancer Consortium.

Hum Reprod. 2018 May 1;33(5):967-977. doi: 10.1093/humrep/dey066.

PMID:
29618007
3.

Simultaneous Aesthetic Eyelid Surgery and Orbital Decompression for Rehabilitation of Thyroid Eye Disease: The One-Stage Approach.

Bernardini FP, Skippen B, Zambelli A, Riesco B, Devoto MH.

Aesthet Surg J. 2018 Jan 24. doi: 10.1093/asj/sjy014. [Epub ahead of print]

PMID:
29373659
4.

Autologous fat transfer with SEFFI (superficial enhanced fluid fat injection) technique in periocular reconstruction.

Riesco B, Abascal C, Duarte A, Flores RM, Rouaux G, Sampayo R, Bernardini F, Devoto M.

Orbit. 2018 Jun;37(3):191-195. doi: 10.1080/01676830.2017.1383470. Epub 2017 Oct 17.

PMID:
29040029
5.

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

Conrad MA, Dawany N, Sullivan KE, Devoto M, Kelsen JR.

Inflamm Bowel Dis. 2017 Dec;23(12):2252-2255. doi: 10.1097/MIB.0000000000001280.

PMID:
29023266
6.

Consensus on Diagnostic Criteria of Idiopathic Orbital Inflammation Using a Modified Delphi Approach.

Mombaerts I, Bilyk JR, Rose GE, McNab AA, Fay A, Dolman PJ, Allen RC, Devoto MH, Harris GJ; Expert Panel of the Orbital Society.

JAMA Ophthalmol. 2017 Jul 1;135(7):769-776. doi: 10.1001/jamaophthalmol.2017.1581.

7.

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

McDaniel LD, Conkrite KL, Chang X, Capasso M, Vaksman Z, Oldridge DA, Zachariou A, Horn M, Diamond M, Hou C, Iolascon A, Hakonarson H, Rahman N, Devoto M, Diskin SJ.

PLoS Genet. 2017 May 18;13(5):e1006787. doi: 10.1371/journal.pgen.1006787. eCollection 2017 May.

8.

Comments on "Simplified Muscle-Suspension Lower Blepharoplasty by Orbicularis Hitch".

Devoto MH, Bernardini FP.

Aesthet Surg J. 2017 Apr 1;37(4):NP43-NP44. doi: 10.1093/asj/sjw254. No abstract available.

9.

Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Kelsen JR, Dawany N, Conrad M, Devoto M.

Inflamm Bowel Dis. 2017 Apr;23(4):591-592. doi: 10.1097/MIB.0000000000001028. No abstract available.

PMID:
28267048
10.

Correlation between stiffness and electromechanical delay components during muscle contraction and relaxation before and after static stretching.

Longo S, Cè E, Rampichini S, Devoto M, Venturelli M, Limonta E, Esposito F.

J Electromyogr Kinesiol. 2017 Apr;33:83-93. doi: 10.1016/j.jelekin.2017.02.001. Epub 2017 Feb 10.

PMID:
28232285
11.

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.

Tsai EA, Gilbert MA, Grochowski CM, Underkoffler LA, Meng H, Zhang X, Wang MM, Shitaye H, Hankenson KD, Piccoli D, Lin H, Kamath BM, Devoto M, Spinner NB, Loomes KM.

Cell Mol Gastroenterol Hepatol. 2016 May 26;2(5):663-675.e2. doi: 10.1016/j.jcmgh.2016.05.013. eCollection 2016 Sep.

12.

Central and peripheral responses to static and dynamic stretch of skeletal muscle: mechano- and metaboreflex implications.

Venturelli M, Cè E, Limonta E, Bisconti AV, Devoto M, Rampichini S, Esposito F.

J Appl Physiol (1985). 2017 Jan 1;122(1):112-120. doi: 10.1152/japplphysiol.00721.2016. Epub 2016 Nov 17.

13.

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS.

BMC Urol. 2016 Oct 21;16(1):62.

14.

IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DS.

Franconi CP, McDonald-McGinn D, Zackai EH, McNamara MA, Salmons H 4th, Moss E, Gur RE, Devoto M, Emanuel BS.

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1112-1115. doi: 10.1002/ajmg.b.32492. Epub 2016 Sep 13.

PMID:
27619075
15.

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I.

Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27.

16.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7.

17.

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB.

Am J Med Genet A. 2016 Mar;170(3):750-3. doi: 10.1002/ajmg.a.37512. Epub 2015 Dec 24.

PMID:
26697755
18.

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

Kelsen JR, Dawany N, Martinez A, Grochowski CM, Maurer K, Rappaport E, Piccoli DA, Baldassano RN, Mamula P, Sullivan KE, Devoto M.

BMC Gastroenterol. 2015 Dec 18;15:179. doi: 10.1186/s12876-015-0412-1. No abstract available.

19.

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

Kelsen JR, Dawany N, Martinez A, Grochowski CM, Maurer K, Rappaport E, Piccoli DA, Baldassano RN, Mamula P, Sullivan KE, Devoto M.

BMC Gastroenterol. 2015 Nov 18;15:160. doi: 10.1186/s12876-015-0394-z. Erratum in: BMC Gastroenterol. 2015;15:179. Martinez, Alejuandro [corrected to Martinez, Alejandro].

20.

Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.

Barthold JS, Pugarelli J, MacDonald ML, Ren J, Adetunji MO, Polson SW, Mateson A, Wang Y, Sol-Church K, McCahan SM, Akins RE Jr, Devoto M, Robbins AK.

Mol Hum Reprod. 2016 Jan;22(1):18-34. doi: 10.1093/molehr/gav060. Epub 2015 Oct 26.

21.

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzaléz R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Li J, Hakonarson H, Devoto M.

Hum Reprod. 2015 Oct;30(10):2439-51. doi: 10.1093/humrep/dev180. Epub 2015 Jul 24.

22.

Integration of Omics Data in Genetic Epidemiology.

Génin E, Devoto M.

Hum Hered. 2015;79(3-4):109-10. doi: 10.1159/000382041. Epub 2015 Jul 28. No abstract available.

PMID:
26201696
23.

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Kelsen JR, Dawany N, Moran CJ, Petersen BS, Sarmady M, Sasson A, Pauly-Hubbard H, Martinez A, Maurer K, Soong J, Rappaport E, Franke A, Keller A, Winter HS, Mamula P, Piccoli D, Artis D, Sonnenberg GF, Daly M, Sullivan KE, Baldassano RN, Devoto M.

Gastroenterology. 2015 Nov;149(6):1415-24. doi: 10.1053/j.gastro.2015.07.006. Epub 2015 Jul 17.

24.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG.

JAMA Neurol. 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. Erratum in: JAMA Neurol. 2015 Aug;72(8):950.

25.

Multinational Comparison of Prophylactic Antibiotic Use for Eyelid Surgery.

Fay A, Nallasamy N, Bernardini F, Wladis EJ, Durand ML, Devoto MH, Meyer D, Hartstein M, Honavar S, Osaki MH, Osaki TH, Santiago YM, Sales-Sanz M, Vadala G, Verity D.

JAMA Ophthalmol. 2015 Jul;133(7):778-84. doi: 10.1001/jamaophthalmol.2015.0789.

PMID:
25905446
26.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.

27.

Stretch-induced changes in tension generation process and stiffness are not accompanied by alterations in muscle architecture of the middle and distal portions of the two gastrocnemii.

Cè E, Longo S, Rampichini S, Devoto M, Limonta E, Venturelli M, Esposito F.

J Electromyogr Kinesiol. 2015 Jun;25(3):469-78. doi: 10.1016/j.jelekin.2015.03.001. Epub 2015 Mar 12.

PMID:
25817316
28.

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

Tsai EA, Grochowski CM, Falsey AM, Rajagopalan R, Wendel D, Devoto M, Krantz ID, Loomes KM, Spinner NB.

Hum Mutat. 2015 Jun;36(6):631-7. doi: 10.1002/humu.22786. Epub 2015 Apr 21.

29.

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.

Grochowski CM, Rajagopalan R, Falsey AM, Loomes KM, Piccoli DA, Krantz ID, Devoto M, Spinner NB.

Am J Med Genet A. 2015 Apr;167A(4):891-3. doi: 10.1002/ajmg.a.36946. Epub 2015 Mar 3. No abstract available.

PMID:
25737299
30.

Axial Globe Position Measurement: A Prospective Multicenter Study by the International Thyroid Eye Disease Society.

Bingham CM, Sivak-Callcott JA, Gurka MJ, Nguyen J, Hogg JP, Feldon SE, Fay A, Seah LL, Strianese D, Durairaj VD, Uddin J, Devoto MH, Harris M, Saunders J, Osaki TH, Looi A, Teo L, Davies BW, Elefante A, Shen S, Realini T, Fischer W, Kazim M.

Ophthalmic Plast Reconstr Surg. 2016 Mar-Apr;32(2):106-12. doi: 10.1097/IOP.0000000000000437.

31.

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Mateson AB, Robbins AK, Li J, Akins RE Jr, Hakonarson H, Devoto M.

J Urol. 2015 May;193(5):1637-45. doi: 10.1016/j.juro.2014.10.097. Epub 2014 Oct 25.

32.

Reply re: "Calcium hydroxyl-apatite (Radiesse) for the correction of periorbital hollows, dark circles, and lower eyelid bags".

Bernardini FP, Devoto MH, Cetinkaya A, Zambelli A.

Ophthalmic Plast Reconstr Surg. 2014 Nov-Dec;30(6):529-30. doi: 10.1097/IOP.0000000000000304. No abstract available.

PMID:
25383575
33.

Common genetic variants in NEFL influence gene expression and neuroblastoma risk.

Capasso M, Diskin S, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM.

Cancer Res. 2014 Dec 1;74(23):6913-24. doi: 10.1158/0008-5472.CAN-14-0431. Epub 2014 Oct 13.

34.

Reply re: "Calcium hydroxylapatite (Radiesse) for the correction of periorbital hollows, dark circles, and lower eyelid bags".

Devoto MH, Bernardini FP, Cetinkaya A, Zambelli A.

Ophthalmic Plast Reconstr Surg. 2014 Sep-Oct;30(5):440-1. doi: 10.1097/IOP.0000000000000274. No abstract available.

PMID:
25203475
35.

Mechanomyogram amplitude correlates with human gastrocnemius medialis muscle and tendon stiffness both before and after acute passive stretching.

Longo S, Cè E, Rampichini S, Devoto M, Limonta E, Esposito F.

Exp Physiol. 2014 Oct;99(10):1359-69. doi: 10.1113/expphysiol.2014.080366. Epub 2014 Jun 20.

36.

Supramaximal levator resection for unilateral congenital ptosis: cosmetic and functional results.

Cruz AA, Akaishi PM, Mendonça AK, Bernadini F, Devoto M, Garcia DM.

Ophthalmic Plast Reconstr Surg. 2014 Sep-Oct;30(5):366-71. doi: 10.1097/IOP.0000000000000105.

PMID:
24759292
37.

Rare variants in TP53 and susceptibility to neuroblastoma.

Diskin SJ, Capasso M, Diamond M, Oldridge DA, Conkrite K, Bosse KR, Russell MR, Iolascon A, Hakonarson H, Devoto M, Maris JM.

J Natl Cancer Inst. 2014 Apr;106(4):dju047. doi: 10.1093/jnci/dju047. Epub 2014 Mar 14.

38.

Calcium hydroxyl-apatite (Radiesse) for the correction of periorbital hollows, dark circles, and lower eyelid bags.

Bernardini FP, Cetinkaya A, Devoto MH, Zambelli A.

Ophthalmic Plast Reconstr Surg. 2014 Jan-Feb;30(1):34-9. doi: 10.1097/IOP.0000000000000001.

PMID:
24398484
39.

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG.

Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11.

40.

Improvement from no light perception after orbital decompression for graves' optic neuropathy.

Devoto MH, Golnik K, Bernardini FP, Alencar VM.

Ophthalmology. 2014 Jan;121(1):431-432.e1. doi: 10.1016/j.ophtha.2013.09.031. Epub 2013 Nov 20. No abstract available.

PMID:
24268859
41.

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.

Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M.

Hum Genet. 2014 Feb;133(2):235-43. doi: 10.1007/s00439-013-1368-2. Epub 2013 Oct 9.

42.

Periocular fat grafting: indications and techniques.

Çetinkaya A, Devoto MH.

Curr Opin Ophthalmol. 2013 Sep;24(5):494-9. doi: 10.1097/ICU.0b013e3283634841. Review.

PMID:
23925063
43.

Minimal incisions vertical endoscopic lifting and fat grafting as a systematic approach to the rejuvenation of the periocular esthetic unit.

Bernardini FP, Gennai A, Izzo L, Devoto MH.

Ophthalmic Plast Reconstr Surg. 2013 Jul-Aug;29(4):308-15. doi: 10.1097/IOP.0b013e318291662a.

PMID:
23839637
44.

Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family.

Feldman GJ, Parvizi J, Levenstien M, Scott K, Erickson JA, Fortina P, Devoto M, Peters CL.

J Bone Miner Res. 2013 Dec;28(12):2540-9. doi: 10.1002/jbmr.1999.

45.

Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.

Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID.

Am J Otolaryngol. 2013 May-Jun;34(3):230-5. doi: 10.1016/j.amjoto.2012.11.002. Epub 2013 Jan 29.

PMID:
23374487
46.

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Cui S, Leyva-Vega M, Tsai EA, EauClaire SF, Glessner JT, Hakonarson H, Devoto M, Haber BA, Spinner NB, Matthews RP.

Gastroenterology. 2013 May;144(5):1107-1115.e3. doi: 10.1053/j.gastro.2013.01.022. Epub 2013 Jan 18.

47.

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility.

Capasso M, Diskin SJ, Totaro F, Longo L, De Mariano M, Russo R, Cimmino F, Hakonarson H, Tonini GP, Devoto M, Maris JM, Iolascon A.

Carcinogenesis. 2013 Mar;34(3):605-11. doi: 10.1093/carcin/bgs380. Epub 2012 Dec 7. Erratum in: Carcinogenesis. 2014 Mar;35(3):737.

48.

Pre- and postoperative quantitative analysis of contour abnormalities in Graves upper eyelid retraction.

Ribeiro SF, Milbratz GH, Garcia DM, Devoto M, Guilherme Neto H, Mörschbächer R, Pereira FJ, Cruz AA.

Ophthalmic Plast Reconstr Surg. 2012 Nov-Dec;28(6):429-33. doi: 10.1097/IOP.0b013e3182696532.

PMID:
23138202
49.

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

Widdershoven JC, Bowser M, Sheridan MB, McDonald-McGinn DM, Zackai EH, Solot CB, Kirschner RE, Beemer FA, Morrow BE, Devoto M, Emanuel BS.

Int J Pediatr Otorhinolaryngol. 2013 Jan;77(1):123-7. doi: 10.1016/j.ijporl.2012.10.009. Epub 2012 Oct 31.

50.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium.

Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.

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