176 related articles for article (PubMed ID: 20101700)
21. Roberts syndrome and SC phocomelia. A single genetic entity.
Römke C; Froster-Iskenius U; Heyne K; Höhn W; Hof M; Grzejszczyk G; Rauskolb R; Rehder H; Schwinger E
Clin Genet; 1987 Mar; 31(3):170-7. PubMed ID: 3568444
[TBL] [Abstract][Full Text] [Related]
22. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
Vega H; Trainer AH; Gordillo M; Crosier M; Kayserili H; Skovby F; Uzielli ML; Schnur RE; Manouvrier S; Blair E; Hurst JA; Forzano F; Meins M; Simola KO; Raas-Rothschild A; Hennekam RC; Jabs EW
J Med Genet; 2010 Jan; 47(1):30-7. PubMed ID: 19574259
[TBL] [Abstract][Full Text] [Related]
23. Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome.
Percival SM; Thomas HR; Amsterdam A; Carroll AJ; Lees JA; Yost HJ; Parant JM
Dis Model Mech; 2015 Aug; 8(8):941-55. PubMed ID: 26044958
[TBL] [Abstract][Full Text] [Related]
24. Roberts-SC phocomelia syndrome with exencephaly.
Verloes A; Herens C; Van Maldergem L; Retz MC; Dodinval P
Ann Genet; 1989; 32(3):169-70. PubMed ID: 2817778
[TBL] [Abstract][Full Text] [Related]
25. Roberts syndrome, normal cell division, and normal intelligence.
Hwang K; Lee DK; Lee SI; Lee HS
J Craniofac Surg; 2002 May; 13(3):390-4. PubMed ID: 12040206
[TBL] [Abstract][Full Text] [Related]
26. Roberts syndrome with normal cell division.
Keppen LD; Gollin SM; Seibert JJ; Sisken JE
Am J Med Genet; 1991 Jan; 38(1):21-4. PubMed ID: 2012128
[TBL] [Abstract][Full Text] [Related]
27. Case report: The evolving phenotype of
Tae SK; Ra M; Thong MK
Front Genet; 2023; 14():1286489. PubMed ID: 38288163
[No Abstract] [Full Text] [Related]
28. A sibship with Roberts/SC phocomelia syndrome.
Holmes-Siedle M; Seres-Santamaria A; Crocker M; Hall JG; Crouchman M
Am J Med Genet; 1990 Sep; 37(1):18-22. PubMed ID: 2240038
[TBL] [Abstract][Full Text] [Related]
29. Esco2 promotes neuronal differentiation by repressing Notch signaling.
Leem YE; Choi HK; Jung SY; Kim BJ; Lee KY; Yoon K; Qin J; Kang JS; Kim ST
Cell Signal; 2011 Nov; 23(11):1876-84. PubMed ID: 21777673
[TBL] [Abstract][Full Text] [Related]
30. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.
Olney RS; Hoyme HE; Roche F; Ferguson K; Hintz S; Madan A
Am J Med Genet; 2001 Nov; 103(4):295-301. PubMed ID: 11746009
[TBL] [Abstract][Full Text] [Related]
31. 3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
Dupont C; Bucourt M; Guimiot F; Kraoua L; Smiljkovski D; Le Tessier D; Lebugle C; Gerard B; Spaggiari E; Bourdoncle P; Tabet AC; Benzacken B; Dupont JM
Mol Cytogenet; 2014; 7(1):59. PubMed ID: 25320640
[TBL] [Abstract][Full Text] [Related]
32. An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.
Mfarej MG; Skibbens RV
PLoS Genet; 2020 Dec; 16(12):e1009219. PubMed ID: 33382686
[TBL] [Abstract][Full Text] [Related]
33. The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.
Qazi QH; Kassner EG; Masakawa A; Madahar C; Choi SJ
Am J Med Genet; 1979; 4(3):231-8. PubMed ID: 517578
[TBL] [Abstract][Full Text] [Related]
34. A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect.
McKay MJ; Craig J; Kalitsis P; Kozlov S; Verschoor S; Chen P; Lobachevsky P; Vasireddy R; Yan Y; Ryan J; McGillivray G; Savarirayan R; Lavin MF; Ramsay RG; Xu H
Int J Radiat Oncol Biol Phys; 2019 Apr; 103(5):1194-1202. PubMed ID: 30508616
[TBL] [Abstract][Full Text] [Related]
35. Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.
Xu B; Lee KK; Zhang L; Gerton JL
PLoS Genet; 2013; 9(10):e1003857. PubMed ID: 24098154
[TBL] [Abstract][Full Text] [Related]
36. Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations.
He S; Chen S; Li SJ; Zhang JW; Liang XL
Mol Genet Genomic Med; 2023 Jun; 11(6):e2177. PubMed ID: 37002187
[TBL] [Abstract][Full Text] [Related]
37. A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.
Concolino D; Sperlì D; Cinti R; Strisciuglio P; Andria G
Clin Genet; 1996 May; 49(5):274-6. PubMed ID: 8832138
[TBL] [Abstract][Full Text] [Related]
38. Picture of the month. Roberts-SC phocomelia syndrome.
Lopez-Allen G; Hutcheon RG; Shaham M; Tunnessen WW
Arch Pediatr Adolesc Med; 1996 Jun; 150(6):645-6. PubMed ID: 8646318
[No Abstract] [Full Text] [Related]
39. Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia.
Camlibel T; Mocan H; Kutlu N; Kutlu N
Genet Couns; 1999; 10(2):157-61. PubMed ID: 10422009
[TBL] [Abstract][Full Text] [Related]
40. Roberts'--SC phocomelia syndrome with cytogenetic findings.
Leonard P; Rendle-Short J; Skardoon L
Hum Genet; 1982; 60(4):379-80. PubMed ID: 7106776
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
