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The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. Rahman N, et al. Among authors: arbour l. Am J Hum Genet. 2002 Oct;71(4):975-80. doi: 10.1086/342776. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214284 Free PMC article.
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. Hanks S, et al. Among authors: arbour l. Am J Hum Genet. 2003 Oct;73(4):791-800. doi: 10.1086/378418. Epub 2003 Aug 21. Am J Hum Genet. 2003. PMID: 14508707 Free PMC article.
Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1.
Rahman N, Abidi F, Ford D, Arbour L, Rapley E, Tonin P, Barton D, Batcup G, Berry J, Cotter F, Davison V, Gerrard M, Gray E, Grundy R, Hanafy M, King D, Lewis I, Ridolfi Luethy A, Madlensky L, Mann J, O'Meara A, Oakhill T, Skolnick M, Strong L, Stratton MR, et al. Rahman N, et al. Among authors: arbour l. Hum Genet. 1998 Nov;103(5):547-56. doi: 10.1007/pl00008708. Hum Genet. 1998. PMID: 9860296
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.
Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D; Factors Associated with Childhood Tumours (FACT) Collaboration; Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N. Scott RH, et al. Nat Genet. 2008 Nov;40(11):1329-34. doi: 10.1038/ng.243. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836444
Penetrance of mutations in the familial Wilms tumor gene FWT1.
Rahman N, Arbour L, Houlston R, Bonaïti-Pellié C, Abidi F, Tranchemontagne J, Ford D, Narod S, Pritchard-Jones K, Foulkes WD, Schwartz C, Stratton MR. Rahman N, et al. Among authors: arbour l. J Natl Cancer Inst. 2000 Apr 19;92(8):650-2. doi: 10.1093/jnci/92.8.650. J Natl Cancer Inst. 2000. PMID: 10772684 No abstract available.
Association of non-syndromic macrocephaly with autism.
Fraser FC, Arbour LA. Fraser FC, et al. Among authors: arbour la. Am J Med Genet. 2001 Dec 15;104(4):342. doi: 10.1002/ajmg.10072. Am J Med Genet. 2001. PMID: 11754072 No abstract available.
139 results