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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: climent s. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium; Lapunzina P. Tenorio J, et al. Among authors: climent s. Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29. Clin Genet. 2019. PMID: 30628072
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM. von der Lippe C, et al. Among authors: climent s. Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13. Am J Med Genet A. 2022. PMID: 34515416
Poster presentations.
Aksu F, Topacoglu H, Arman C, Atac A, Tetik S, Hasanovic A, Kulenovic A, Mornjakovic Z, Pikula B, Sarac-Hadzihalilovic A, Voljevica A, Bamac B, Colak T, Alemdar M, Dundar G, Selekler M, Dincer O, Colak E, Ozbek A, Kilic C, Kamburoglu K, Ozen T, Kavak V, Kirici Y, Oztas E, Soysal HA, Unur E, Ekinci N, Karaca O, Malakhova O, Kocaoglu M, Toker S, Taser F, Kilincoglu V, Yurtgun MF, Dalcik C, Zeybek A, Baroncini M, Peltier J, Jissendi P, Pruvo JP, Francke JP, Prevot V, Kosif R, Arifoglu Y, Diramali M, Sarsilmaz M, Kose E, Ogeturk M, Akpinar B, Kus I, Meydan S, Kara A, Kurtoglu Z, Tekdemir I, Elhan A, Bas O, Odaci E, Mollaoglu H, Ucok K, Kaplan S, Senoglu M, Nacitarhan V, Kurutas EB, Senoglu N, Altun I, Atli Y, Ozbag D, Karakas S, Bilgin MD, Tellioglu AM, Ozlem S, Akcanal B, Yildiz Y, Gunes H, Kose H, Uzum I, Gundogmus UN, Caglayan C, Pavlova V, Dimitrova M, Georgieva L, Nikolova E, Uzmansel D, Ozturk NC, Saylam CY, Ozgiray E, Orhan M, Cagli S, Zileli M, Ozkan D, Akkaya T, Comert A, Balikci N, Ozdemir E, Gumus H, Ergul Z, Kaya O, Altun S, Unlu RE, Orbay H, Kim DI, Han SH, Kim YS, Kim HJ, Lee KS, Elcioglu O, Ozden H, Guven G, Imre N, Yalcin B, Ozan H, Akyer P, Guvencer M, Karatosun V, Sa… See abstract for full author list ➔ Aksu F, et al. Among authors: climent s, climent m. Surg Radiol Anat. 2009 Sep;31 Suppl 1:95-229. doi: 10.1007/BF03371486. Surg Radiol Anat. 2009. PMID: 27392492 No abstract available.
33 results