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Items: 16

1.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y.

Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.

2.

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

Ballinger ML, Best A, Mai PL, Khincha PP, Loud JT, Peters JA, Achatz MI, Chojniak R, Balieiro da Costa A, Santiago KM, Garber J, O'Neill AF, Eeles RA, Evans DG, Bleiker E, Sonke GS, Ruijs M, Loo C, Schiffman J, Naumer A, Kohlmann W, Strong LC, Bojadzieva J, Malkin D, Rednam SP, Stoffel EM, Koeppe E, Weitzel JN, Slavin TP, Nehoray B, Robson M, Walsh M, Manelli L, Villani A, Thomas DM, Savage SA.

JAMA Oncol. 2017 Dec 1;3(12):1634-1639. doi: 10.1001/jamaoncol.2017.1968.

PMID:
28772291
3.

Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

Wasserman JD, Tomlinson GE, Druker H, Kamihara J, Kohlmann WK, Kratz CP, Nathanson KL, Pajtler KW, Parareda A, Rednam SP, States LJ, Villani A, Walsh MF, Zelley K, Schiffman JD.

Clin Cancer Res. 2017 Jul 1;23(13):e123-e132. doi: 10.1158/1078-0432.CCR-17-0548. Review.

PMID:
28674121
4.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE.

Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Review.

PMID:
28674120
5.

PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

Schultz KAP, Rednam SP, Kamihara J, Doros L, Achatz MI, Wasserman JD, Diller LR, Brugières L, Druker H, Schneider KA, McGee RB, Foulkes WD.

Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629. Review.

PMID:
28620008
6.

Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, Nathanson KL, States LJ, Tomlinson GE, Villani A, Voss SD, Schiffman JD, Wasserman JD.

Clin Cancer Res. 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547. Review.

PMID:
28620007
7.

DNA methylation of a novel PAK4 locus influences ototoxicity susceptibility following cisplatin and radiation therapy for pediatric embryonal tumors.

Brown AL, Foster KL, Lupo PJ, Peckham-Gregory EC, Murray JC, Okcu MF, Lau CC, Rednam SP, Chintagumpala M, Scheurer ME.

Neuro Oncol. 2017 Oct 1;19(10):1372-1379. doi: 10.1093/neuonc/nox076.

PMID:
28444219
8.

Hemisacrectomy with preservation of the contralateral sacral nerve roots and sacroiliac joint for pelvic neurofibrosarcoma in a 7-year-old child: case report with 2-year follow-up.

Palejwala AH, Fridley JS, Garcia K, Vasudevan SA, Khechoyan D, Rednam S, Koh CJ, Jea A.

J Neurosurg Pediatr. 2017 Jan;19(1):102-107. doi: 10.3171/2016.7.PEDS16203. Epub 2016 Sep 30. Review.

PMID:
27689246
9.

Exploratory analysis of ERCC2 DNA methylation in survival among pediatric medulloblastoma patients.

Banfield E, Brown AL, Peckham EC, Rednam SP, Murray J, Okcu MF, Mitchell LE, Chintagumpala MM, Lau CC, Scheurer ME, Lupo PJ.

Cancer Epidemiol. 2016 Oct;44:161-166. doi: 10.1016/j.canep.2016.08.020. Epub 2016 Sep 5.

10.

SOD2 genetic variant associated with treatment-related ototoxicity in cisplatin-treated pediatric medulloblastoma.

Brown AL, Lupo PJ, Okcu MF, Lau CC, Rednam S, Scheurer ME.

Cancer Med. 2015 Nov;4(11):1679-86. doi: 10.1002/cam4.516. Epub 2015 Sep 24.

11.

Germ-line and somatic DICER1 mutations in pineoblastoma.

de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD.

Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7. Epub 2014 Jul 15.

12.

Glutathione S-transferase P1 single nucleotide polymorphism predicts permanent ototoxicity in children with medulloblastoma.

Rednam S, Scheurer ME, Adesina A, Lau CC, Okcu MF.

Pediatr Blood Cancer. 2013 Apr;60(4):593-8. doi: 10.1002/pbc.24366. Epub 2012 Oct 12.

13.

Metastatic squamous cell carcinoma of the oropharynx in a child with a mutation in the Connexin 26 gene.

Rednam S, Hicks J, Levy ML, Pappo AS.

J Pediatr Hematol Oncol. 2011 Jul;33(5):387-9. doi: 10.1097/MPH.0b013e3181e65c1c.

PMID:
20829717
14.

Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3).

Yustein JT, Rednam S, Bertuch AA, Goss JA, Brandt ML, Eldin K, Lu X, Hicks J.

Pediatr Blood Cancer. 2010 Jul 1;54(7):1041-4. doi: 10.1002/pbc.22437.

PMID:
20162687
15.

USP11 negatively regulates TNFalpha-induced NF-kappaB activation by targeting on IkappaBalpha.

Sun W, Tan X, Shi Y, Xu G, Mao R, Gu X, Fan Y, Yu Y, Burlingame S, Zhang H, Rednam SP, Lu X, Zhang T, Fu S, Cao G, Qin J, Yang J.

Cell Signal. 2010 Mar;22(3):386-94. doi: 10.1016/j.cellsig.2009.10.008.

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