Below are the most recent publications written about "Chromosome Deletion" by people in Profiles.
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Alnahhas I, Rayi A, Thomas D, Ong S, Giglio P, Puduvalli V. False-positive 1p/19q Testing Results in Gliomas: Clinical and Research Consequences. Am J Clin Oncol. 2020 11; 43(11):802-805.
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Banerjee S, Corless CL, Miettinen MM, Noh S, Ustoy R, Davis JL, Tang CM, Yebra M, Burgoyne AM, Sicklick JK. Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma. J Transl Med. 2019 07 30; 17(1):246.
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Okur V, Nees S, Chung WK, Krishnan U. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Am J Med Genet A. 2018 08; 176(8):1773-1777.
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Keen C, Samango-Sprouse C, Dubbs H, Zackai EH. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. Am J Med Genet A. 2017 Mar; 173(3):762-765.
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Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. Cell Death Differ. 2016 12; 23(12):1973-1984.
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Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec; 52(12):804-14.
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Imitola J, Khurana DS, Teplyuk NM, Zucker M, Jethva R, Legido A, Krichevsky AM, Frangieh M, Walsh CA, Carvalho KS. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. Am J Med Genet A. 2015 Nov; 167A(11):2808-16.
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Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK. Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A. 2015 Dec; 167A(12):3091-5.
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Hope WC, Cordovez JA, Capasso JE, Hammersmith KM, Eagle RC, Lall-Trail J, Levin AV. Peters anomaly in cri-du-chat syndrome. J AAPOS. 2015 Jun; 19(3):277-9.
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Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Eur J Hum Genet. 2015 Dec; 23(12):1615-26.