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Wilms tumor in three patients with Bloom syndrome.
Cairney AE, Andrews M, Greenberg M, Smith D, Weksberg R. Cairney AE, et al. Among authors: weksberg r. J Pediatr. 1987 Sep;111(3):414-6. doi: 10.1016/s0022-3476(87)80469-9. J Pediatr. 1987. PMID: 3040954 No abstract available.
Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination.
Coppes MJ, Bonetta L, Huang A, Hoban P, Chilton-MacNeill S, Campbell CE, Weksberg R, Yeger H, Reeve AE, Williams BR. Coppes MJ, et al. Among authors: weksberg r. Genes Chromosomes Cancer. 1992 Nov;5(4):326-34. doi: 10.1002/gcc.2870050408. Genes Chromosomes Cancer. 1992. PMID: 1283321 Review.
Wilms tumor in a patient with Prader-Willi syndrome.
Coppes MJ, Sohl H, Teshima IE, Mutirangura A, Ledbetter DH, Weksberg R. Coppes MJ, et al. Among authors: weksberg r. J Pediatr. 1993 May;122(5 Pt 1):730-3. doi: 10.1016/s0022-3476(06)80015-6. J Pediatr. 1993. PMID: 8388447 Review.
Hypercalciuria in Beckwith-Wiedemann syndrome.
Goldman M, Shuman C, Weksberg R, Rosenblum ND. Goldman M, et al. Among authors: weksberg r. J Pediatr. 2003 Feb;142(2):206-8. doi: 10.1067/mpd.2003.82. J Pediatr. 2003. PMID: 12584548
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin.
Weksberg R, Smith C, Anson-Cartwright L, Maloney K. Weksberg R, et al. Am J Hum Genet. 1988 Jun;42(6):816-24. Am J Hum Genet. 1988. PMID: 3163468 Free PMC article.
Molecular genetics of Beckwith-Wiedemann syndrome.
Li M, Squire JA, Weksberg R. Li M, et al. Among authors: weksberg r. Curr Opin Pediatr. 1997 Dec;9(6):623-9. doi: 10.1097/00008480-199712000-00012. Curr Opin Pediatr. 1997. PMID: 9425596 Review.
Wilms tumor in an 11-year-old with hemihyperplasia.
Carré A, Frantz CN, Weksberg R, Nicholson L, Ciarlo L, Zackai EH, Gripp KW. Carré A, et al. Among authors: weksberg r. Am J Med Genet A. 2005 Dec 1;139A(2):165-6. doi: 10.1002/ajmg.a.31004. Am J Med Genet A. 2005. PMID: 16278900 No abstract available.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: weksberg r. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development.
Weksberg R. Weksberg R. Am J Hum Genet. 1995 Nov;57(5):994-7. Am J Hum Genet. 1995. PMID: 7485184 Free PMC article. No abstract available.
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.
Michaud JL, Héon E, Guilbert F, Weill J, Puech B, Benson L, Smallhorn JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Brevière GM. Michaud JL, et al. Among authors: weksberg r. J Pediatr. 1996 Feb;128(2):225-9. doi: 10.1016/s0022-3476(96)70394-3. J Pediatr. 1996. PMID: 8636816
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