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Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK. McCabe ER, et al. Among authors: chamberlain j. J Clin Invest. 1989 Jan;83(1):95-9. doi: 10.1172/JCI113890. J Clin Invest. 1989. PMID: 2536049 Free PMC article.
Identification of new markers in Xp21 between DXS28 (C7) and DMD.
Worley KC, Towbin JA, Zhu XM, Barker DF, Ballabio A, Chamberlain J, Biesecker LG, Blethen SL, Brosnan P, Fox JE, et al. Worley KC, et al. Among authors: chamberlain j. Genomics. 1992 Aug;13(4):957-61. doi: 10.1016/0888-7543(92)90007-f. Genomics. 1992. PMID: 1505987 Free article.
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.
Chamberlain JS, Chamberlain JR, Fenwick RG, Ward PA, Caskey CT, Dimnik LS, Bech-Hansen NT, Hoar DI, Richards S, Covone AE, Govanni R, Abbs S, Bentley DR, Bobrow M, Rysiecki G, Ray PN, Boileau C, Junien C, Boehm C, Venne VL, Fujmura FK, Spiga I, Ferrari M, Tedeschi S, Bakker E, Kneppers AL, van Ommen GJ, Jain K, Spector E, Crandall B, Kiuru A, Savontaus ML, Caskey CT, Chamberlain JS, Chamberlain JR, Rysiecki G. Chamberlain JS, et al. Among authors: chamberlain jr. JAMA. 1992 May 20;267(19):2609-15. doi: 10.1001/jama.1992.03480190051030. JAMA. 1992. PMID: 1573747 Clinical Trial.
Epidemiology of diagnostic errors in pediatric emergency departments using electronic triggers.
Mahajan P, White E, Shaw K, Parker SJ, Chamberlain J, Ruddy RM, Alpern ER, Corboy J, Krack A, Ku B, Morrison Ponce D, Payne AS, Freiheit E, Horvath G, Kolenic G, Carney M, Klekowski N, O'Connell KJ, Singh H. Mahajan P, et al. Among authors: chamberlain j. Acad Emerg Med. 2025 Jan 15. doi: 10.1111/acem.15087. Online ahead of print. Acad Emerg Med. 2025. PMID: 39815759
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2.
Phillips KA, Kotsopoulos J, Domchek SM, Terry MB, Chamberlain JA, Bassett JK, Aeilts AM, Andrulis IL, Buys SS, Cui W, Daly MB, Eisen AF, Foulkes WD, Friedlander ML, Gronwald J, Hopper JL, John EM, Karlan BY, Kim RH, Kurian AW, Lubinski J, Metcalfe K, Nathanson KL, Singer CF, Southey MC, Symecko H, Tung N, Narod SA, Milne RL; Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry, and the Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry and the Breast Cancer Family Registry. Phillips KA, et al. Among authors: chamberlain ja. J Clin Oncol. 2024 Oct 2:JCO2400176. doi: 10.1200/JCO.24.00176. Online ahead of print. J Clin Oncol. 2024. PMID: 39356978
1,337 results