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Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.

J Med Genet. 2018 Dec 10. pii: jmedgenet-2018-105599. doi: 10.1136/jmedgenet-2018-105599. [Epub ahead of print]


10 Years' Experience in Balanitis Xerotica Obliterans: A Single-Institution Study.

Pradhan A, Patel R, Said AJ, Upadhyaya M.

Eur J Pediatr Surg. 2018 Aug 21. doi: 10.1055/s-0038-1668562. [Epub ahead of print]


A Case of Diabetic Ketoacidosis Presenting with Hypernatremia, Hyperosmolarity, and Altered Sensorium.

Kumar V, Nanavati SM, Melki G, Upadhyaya M, Dhillon R, Gibiezaite S, Michael P, Singhal M.

Case Rep Endocrinol. 2018 Jul 16;2018:4806598. doi: 10.1155/2018/4806598. eCollection 2018.


Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Summerer A, Mautner VF, Upadhyaya M, Claes KBM, Högel J, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Genet. 2018 Jul;137(6-7):511-520. doi: 10.1007/s00439-018-1904-1. Epub 2018 Jul 10.


Cutaneous neurofibromas: Current clinical and pathologic issues.

Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A.

Neurology. 2018 Jul 10;91(2 Supplement 1):S5-S13. doi: 10.1212/WNL.0000000000005792.


Evaluation of environmental sampling as a low technology method for surveillance of Foot-and-mouth disease virus in an endemic area.

Colenutt C, Brown E, Nelson N, Wadsworth J, Maud J, Adhikari B, Chapagain Kafle S, Upadhyaya M, Kafle Pandey S, Paton DJ, Sumption K, Gubbins S.

Appl Environ Microbiol. 2018 Jun 29. pii: AEM.00686-18. doi: 10.1128/AEM.00686-18. [Epub ahead of print]


Pilot evaluation of HEAL - A natural experiment to promote obesity prevention behaviors among low-income pregnant women.

Sharma SV, Chuang RJ, Byrd-Williams C, Danho M, Upadhyaya M, Berens P, Hoelscher DM.

Prev Med Rep. 2018 Apr 9;10:254-262. doi: 10.1016/j.pmedr.2018.04.005. eCollection 2018 Jun.


Angioedema Secondary to IV Tissue Plasminogen Activator Administration for Treatment of Acute Ischemic Stroke.

Chaucer B, Whelan D, Veys C, Upadhyaya M.

Case Rep Crit Care. 2018 Apr 15;2018:3257215. doi: 10.1155/2018/3257215. eCollection 2018.


Emerging therapeutic targets for neurofibromatosis type 1.

Walker JA, Upadhyaya M.

Expert Opin Ther Targets. 2018 May;22(5):419-437. doi: 10.1080/14728222.2018.1465931. Epub 2018 May 7. Review.


Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.


Long-term efficacy of a tongue tie service in improving breast feeding rates: A prospective study.

Billington J, Yardley I, Upadhyaya M.

J Pediatr Surg. 2018 Feb;53(2):286-288. doi: 10.1016/j.jpedsurg.2017.11.014. Epub 2017 Nov 13.


Bronchoscopy as a screening tool for symptomatic tracheomalacia in oesophageal atresia.

Thakkar H, Upadhyaya M, Yardley IE.

J Pediatr Surg. 2018 Feb;53(2):227-229. doi: 10.1016/j.jpedsurg.2017.11.003. Epub 2017 Nov 11.


A Public Health Opportunity Found in Food Waste.

Sharma SV, Upadhyaya M, Bounds G, Markham C.

Prev Chronic Dis. 2017 Nov 2;14:E108. doi: 10.5888/pcd14.160596.


Management of pneumatosis intestinalis in children over the age of 6 months: a conservative approach.

Nellihela L, Mutalib M, Thompson D, Jochen K, Upadhyaya M.

Arch Dis Child. 2018 Apr;103(4):352-355. doi: 10.1136/archdischild-2017-313201. Epub 2017 Oct 7.


Primary pelvic hydatid cyst in a postmenopausal female: a surgical challenge.

Paul S, Mandal S, Upadhyaya M, Pramanik SR, Biswas SC, Biswas RR.

Autops Case Rep. 2017 Jun 30;7(2):49-54. doi: 10.4322/acr.2017.012. eCollection 2017 Apr-Jun.


The NF1 somatic mutational landscape in sporadic human cancers.

Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M.

Hum Genomics. 2017 Jun 21;11(1):13. doi: 10.1186/s40246-017-0109-3. Review.


Aborted Tracheo-esophageal Fistula in a Neonate.

Hallett JM, Bryant V, Drake D, George S, Upadhyaya M.

Pediatr Dev Pathol. 2018 Sep-Oct;21(5):475-479. doi: 10.1177/1093526617708858. Epub 2017 May 11.


The intense desire for healthy limb amputation: A dis-proprioceptive neuropsychiatric disorder.

Upadhyaya MA, Nasrallah HA.

Ann Clin Psychiatry. 2017 May;29(2):125-132. Review.


Telomere erosion in NF1 tumorigenesis.

Jones RE, Grimstead JW, Sedani A, Baird D, Upadhyaya M.

Oncotarget. 2017 Jun 20;8(25):40132-40139. doi: 10.18632/oncotarget.16981.


The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.

Blakeley JO, Bakker A, Barker A, Clapp W, Ferner R, Fisher MJ, Giovannini M, Gutmann DH, Karajannis MA, Kissil JL, Legius E, Lloyd AC, Packer RJ, Ramesh V, Riccardi VM, Stevenson DA, Ullrich NJ, Upadhyaya M, Stemmer-Rachamimov A.

Am J Med Genet A. 2017 Jun;173(6):1714-1721. doi: 10.1002/ajmg.a.38239. Epub 2017 Apr 24.


Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

Sohier P, Luscan A, Lloyd A, Ashelford K, Laurendeau I, Briand-Suleau A, Vidaud D, Ortonne N, Pasmant E, Upadhyaya M.

Genes Chromosomes Cancer. 2017 May;56(5):421-426. doi: 10.1002/gcc.22446. Epub 2017 Mar 7.


Are Hospital Workers Healthy?: A Study of Cardiometabolic, Behavioral, and Psychosocial Factors Associated With Obesity Among Hospital Workers.

Sharma SV, Upadhyaya M, Karhade M, Baun WB, Perkison WB, Pompeii LA, Brown HS, Hoelscher DM.

J Occup Environ Med. 2016 Dec;58(12):1231-1238.


Inflammatory duodenal necrosis complicating gastroschisis.

Fouad D, Lee GJ, Upadhyaya M, Drake D.

J Indian Assoc Pediatr Surg. 2016 Oct-Dec;21(4):190-192.


Short article: Buried bumper syndrome in children: incidence and risk factors.

Stewart CE, Mutalib M, Pradhan A, Bassett C, Drake D, Upadhyaya M.

Eur J Gastroenterol Hepatol. 2017 Feb;29(2):181-184. doi: 10.1097/MEG.0000000000000758.


An evidence-based conceptual framework of healthy cooking.

Raber M, Chandra J, Upadhyaya M, Schick V, Strong LL, Durand C, Sharma S.

Prev Med Rep. 2016 May 17;4:23-8. doi: 10.1016/j.pmedr.2016.05.004. eCollection 2016 Dec.


Giant Cell Tumor Presenting as A Spindle Shaped Tumor Arising From the Costovertebral Junction at D7, d8, d9 Levels.

Upadhyaya M, Kale S, Chaudhary P, Dhar S.

J Orthop Case Rep. 2016 Jan-Mar;6(1):20-2. doi: 10.13107/jocr.2250-0685.367.


Using a Community-Engaged Approach to Develop a Bilingual Survey about Psychosocial Stressors among Individuals of Mexican Origin.

Symanski E, Karpman M, Jimenez M, Lopez DS, Felknor SA, Upadhyaya M, Strom SS, Bondy ML.

J Health Care Poor Underserved. 2015 Nov;26(4):1456-71. doi: 10.1353/hpu.2015.0136.


Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.

Mayes MB, Morgan T, Winston J, Buxton DS, Kamat MA, Smith D, Williams M, Martin RL, Kleinjan DA, Cooper DN, Upadhyaya M, Chuzhanova N.

Hum Genomics. 2015 Oct 7;9:25. doi: 10.1186/s40246-015-0047-x.


An urgent need to understand and address the safety and well-being of hospital "sitters".

Schoenfisch AL, Pompeii LA, Lipscomb HJ, Smith CD, Upadhyaya M, Dement JM.

Am J Ind Med. 2015 Dec;58(12):1278-87. doi: 10.1002/ajim.22529. Epub 2015 Sep 9.


Vascular Risk Factors in Patients with Different Subtypes of Ischemic Stroke May Affect Their Outcome after Intravenous tPA.

Dong Y, Cao W, Ren J, Nair DS, Parker S, Jahnel JL, Swanson-Devlin TG, Beck JM, Mathews M, McNeil CJ, Upadhyaya M, Gao Y, Dong Q, Wang DZ.

PLoS One. 2015 Aug 6;10(8):e0131487. doi: 10.1371/journal.pone.0131487. eCollection 2015.


High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.



Agarwal A, Dhama V, Manik YK, Upadhyaya MK, Singh CS, Rastogi V.

Middle East J Anaesthesiol. 2015 Feb;23(1):105-10.


Physical assault, physical threat, and verbal abuse perpetrated against hospital workers by patients or visitors in six U.S. hospitals.

Pompeii LA, Schoenfisch AL, Lipscomb HJ, Dement JM, Smith CD, Upadhyaya M.

Am J Ind Med. 2015 Nov;58(11):1194-204. doi: 10.1002/ajim.22489. Epub 2015 Jun 15.


Integrating classroom, community, mixed-methods research, and community-based participatory research to teach public health practice.

Upadhyaya M, May M, Highfield L.

Public Health Rep. 2015 May-Jun;130(3):286-92. No abstract available.


Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours.

Thomas LE, Winston J, Rad E, Mort M, Dodd KM, Tee AR, McDyer F, Moore S, Cooper DN, Upadhyaya M.

Hum Genomics. 2015 Feb 15;9:3. doi: 10.1186/s40246-015-0025-3.


STAT3 and HIF1α Signaling Drives Oncogenic Cellular Phenotypes in Malignant Peripheral Nerve Sheath Tumors.

Rad E, Dodd K, Thomas L, Upadhyaya M, Tee A.

Mol Cancer Res. 2015 Jul;13(7):1149-60. doi: 10.1158/1541-7786.MCR-14-0182. Epub 2015 Apr 1.


Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M.

Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12.


A conceptual framework for organizational readiness to implement nutrition and physical activity programs in early childhood education settings.

Sharma SV, Upadhyaya M, Schober DJ, Byrd-Williams C.

Prev Chronic Dis. 2014 Oct 30;11:E190. doi: 10.5888/pcd11.140166.


Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.

Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.


Balanced reciprocal X-1 translocation (46,X,t(X;1)(q22;p32) and primary amenorrhea.

Duhan N, Malik R, Upadhyaya M.

Eur J Obstet Gynecol Reprod Biol. 2014 Oct;181:338-9. doi: 10.1016/j.ejogrb.2014.08.018. Epub 2014 Aug 17. No abstract available.


PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

De Raedt T, Beert E, Pasmant E, Luscan A, Brems H, Ortonne N, Helin K, Hornick JL, Mautner V, Kehrer-Sawatzki H, Clapp W, Bradner J, Vidaud M, Upadhyaya M, Legius E, Cichowski K.

Nature. 2014 Oct 9;514(7521):247-51. doi: 10.1038/nature13561. Epub 2014 Aug 13.


SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Vogt J, Bengesser K, Claes KB, Wimmer K, Mautner VF, van Minkelen R, Legius E, Brems H, Upadhyaya M, Högel J, Lazaro C, Rosenbaum T, Bammert S, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Genome Biol. 2014 Jun 2;15(6):R80. doi: 10.1186/gb-2014-15-6-r80.


Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.

Winston J, Duerden L, Mort M, Frayling IM, Rogers MT, Upadhyaya M.

Eur J Hum Genet. 2015 Jan;23(1):67-71. doi: 10.1038/ejhg.2014.58. Epub 2014 Apr 23.


Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

Hamby SE, Reviriego P, Cooper DN, Upadhyaya M, Chuzhanova N.

Hum Genomics. 2013 Aug 15;7:18. doi: 10.1186/1479-7364-7-18.


Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG.

J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28.


Erythropoietin facilitates resuscitation from ventricular fibrillation by signaling protection of mitochondrial bioenergetic function in rats.

Radhakrishnan J, Upadhyaya MP, Ng M, Edelheit A, Moy HM, Ayoub IM, Gazmuri RJ.

Am J Transl Res. 2013 Apr 19;5(3):316-26. Print 2013.


A systematic review of abusive visceral injuries in childhood--their range and recognition.

Maguire SA, Upadhyaya M, Evans A, Mann MK, Haroon MM, Tempest V, Lumb RC, Kemp AM.

Child Abuse Negl. 2013 Jul;37(7):430-45. doi: 10.1016/j.chiabu.2012.10.009. Epub 2013 Jan 7. Review.


Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

Thomas L, Mautner VF, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Sep 4;6:18. doi: 10.1186/1479-7364-6-18.


Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Aug 13;6:12. doi: 10.1186/1479-7364-6-12.


An emerging role for microRNAs in NF1 tumorigenesis.

Sedani A, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Nov 17;6:23. doi: 10.1186/1479-7364-6-23. Review.

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