Bates AW. Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?. „Am J Med Genet A”. 117A. 1, s. 92-6, 2003. DOI: 10.1002/ajmg.a.10864. PMID: 12548750.
Van Den Berg DJ, Francke U. Roberts syndrome: a review of 100 cases and a new rating system for severity. „Am J Med Genet”. 47. 7, s. 1104-23, 1994. DOI: 10.1002/ajmg.1320470735. PMID: 8291532.
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. „Nat Genet”. 37. 5, s. 468-70, 2005. DOI: 10.1038/ng1548. PMID: 15821733.
DM. Parry, JJ. Mulvihill, SE. Tsai, MI. Kaiser-Kupfer i inni. SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. „Am J Med Genet”. 24 (4), s. 653-72, sierpień 1986. DOI: 10.1002/ajmg.1320240410. PMID: 3740099.
nih.gov
ncbi.nlm.nih.gov
Bates AW. Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?. „Am J Med Genet A”. 117A. 1, s. 92-6, 2003. DOI: 10.1002/ajmg.a.10864. PMID: 12548750.
Bates AW. A case of Roberts syndrome described in 1737. „J Med Genet”. 38. 8, s. 565-7, 2001. PMID: 11494971.
Van Den Berg DJ, Francke U. Roberts syndrome: a review of 100 cases and a new rating system for severity. „Am J Med Genet”. 47. 7, s. 1104-23, 1994. DOI: 10.1002/ajmg.1320470735. PMID: 8291532.
Urban M, Rogalla P, Tinschert S, Krietsch P. Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. „Am J Med Genet”. 72. 3, s. 307-14, 1997. PMID: 9332660.
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. „Nat Genet”. 37. 5, s. 468-70, 2005. DOI: 10.1038/ng1548. PMID: 15821733.
SL. Wenger, J. Blatt, MW. Steele, DA. Lloyd i inni. Rhabdomyosarcoma in Roberts syndrome. „Cancer Genet Cytogenet”. 31 (2), s. 285-9, Apr 1988. PMID: 3349442.
DM. Parry, JJ. Mulvihill, SE. Tsai, MI. Kaiser-Kupfer i inni. SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. „Am J Med Genet”. 24 (4), s. 653-72, sierpień 1986. DOI: 10.1002/ajmg.1320240410. PMID: 3740099.
pubmedcentral.nih.gov
J. B. Roberts. A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities. Annals of Surgery, Philadelphia, 1919, 70: 252. PDF
