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Page 1
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.
Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA. Lauritsen KF, et al. Among authors: gregersen pa. Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14. Eur J Med Genet. 2017. PMID: 28315471
Global Retinoblastoma Presentation and Analysis by National Income Level.
Global Retinoblastoma Study Group; Fabian ID, Abdallah E, Abdullahi SU, Abdulqader RA, Adamou Boubacar S, Ademola-Popoola DS, Adio A, Afshar AR, Aggarwal P, Aghaji AE, Ahmad A, Akib MNR, Al Harby L, Al Ani MH, Alakbarova A, Portabella SA, Al-Badri SAF, Alcasabas APA, Al-Dahmash SA, Alejos A, Alemany-Rubio E, Alfa Bio AI, Alfonso Carreras Y, Al-Haddad C, Al-Hussaini HHY, Ali AM, Alia DB, Al-Jadiry MF, Al-Jumaily U, Alkatan HM, All-Eriksson C, Al-Mafrachi AARM, Almeida AA, Alsawidi KM, Al-Shaheen AASM, Al-Shammary EH, Amiruddin PO, Antonino R, Astbury NJ, Atalay HT, Atchaneeyasakul LO, Atsiaya R, Attaseth T, Aung TH, Ayala S, Baizakova B, Balaguer J, Balayeva R, Balwierz W, Barranco H, Bascaran C, Beck Popovic M, Benavides R, Benmiloud S, Bennani Guebessi N, Berete RC, Berry JL, Bhaduri A, Bhat S, Biddulph SJ, Biewald EM, Bobrova N, Boehme M, Boldt HC, Bonanomi MTBC, Bornfeld N, Bouda GC, Bouguila H, Boumedane A, Brennan RC, Brichard BG, Buaboonnam J, Calderón-Sotelo P, Calle Jara DA, Camuglia JE, Cano MR, Capra M, Cassoux N, Castela G, Castillo L, Català-Mora J, Chantada GL, Chaudhry S, Chaugule SS, Chauhan A, Chawla B, Chernodrinska VS, Chiwanga FS, Chuluunbat T, Cieslik K, Cockcr… See abstract for full author list ➔ Global Retinoblastoma Study Group, et al. Among authors: gregersen pa. JAMA Oncol. 2020 May 1;6(5):685-695. doi: 10.1001/jamaoncol.2019.6716. JAMA Oncol. 2020. PMID: 32105305 Free PMC article.
Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.
Fabian ID, Stacey AW, Foster A, Kivelä TT, Munier FL, Keren-Froim N, Gomel N, Cassoux N, Sagoo MS, Reddy MA, Harby LA, Zondervan M, Bascaran C, Abdallah E, Abdullahi SU, Boubacar SA, Ademola-Popoola DS, Adio A, Aghaji AE, Portabella SA, Alfa Bio AI, Ali AM, Alia DB, All-Eriksson C, Almeida AA, Alsawidi KM, Antonino R, Astbury NJ, Atsiaya R, Balaguer J, Balwierz W, Barranco H, Popovic MB, Benmiloud S, Guebessi NB, Berete RC, Biddulph SJ, Biewald EM, Blum S, Bobrova N, Boehme M, Bornfeld N, Bouda GC, Bouguila H, Boumedane A, Brichard BG, L MC, Castela G, Català-Mora J, Chantada GL, Chernodrinska VS, Chiwanga FS, Cieslik K, Comsa C, Correa Llano MG, Csóka M, Da Gama IV, Davidson A, Potter P, Desjardins L, Dragomir MD, Bruyn MD, Kettani AE, Elbahi AM, Elgalaly D, Elhaddad AM, Ali Elhassan MM, Elzembely MM, Essuman VA, Evina TGA, Fasina O, Fernández-Teijeiro A, Gandiwa M, Aldana DG, Geel JA, Gizachew Z, Gregersen PA, Guedenon KM, Hadjistilianou T, Hassan S, Hederova S, Hessissen L, Hordofa DF, Hummlen M, Husakova K, Ida R, Ilic VR, Jenkinson H, Amani Kabesha TB, Kabore RL, Kalinaki A, Kapelushnik N, Kardava T, Kemilev PK, Kepak T, Khotenashvili Z, Klett A, Kosh Komba Palet JE, K… See abstract for full author list ➔ Fabian ID, et al. Among authors: gregersen pa. Br J Ophthalmol. 2021 Oct;105(10):1435-1443. doi: 10.1136/bjophthalmol-2020-316613. Epub 2020 Sep 15. Br J Ophthalmol. 2021. PMID: 32933936
Incidence of Retinoblastoma Has Increased: Results from 40 European Countries.
Stacey AW, Bowman R, Foster A, Kivelä TT, Munier FL, Cassoux N, Fabian ID; Global Retinoblastoma Study Group. Stacey AW, et al. Ophthalmology. 2021 Sep;128(9):1369-1371. doi: 10.1016/j.ophtha.2021.01.024. Epub 2021 Jan 26. Ophthalmology. 2021. PMID: 33508429 No abstract available.
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA. Bolund ACS, et al. Among authors: gregersen pa. Eur J Med Genet. 2021 Dec;64(12):104342. doi: 10.1016/j.ejmg.2021.104342. Epub 2021 Sep 16. Eur J Med Genet. 2021. PMID: 34537402 Free article. Review.
57 results