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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Kaszuba MC, Pulido JS, Folpe AL, Pichurin PN, Goodenberger ML, Spinner RJ. Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. World Neurosurg. 2018 Jan; 109:362-364.
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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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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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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.
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Bosse KR, Shukla AR, Pawel B, Chikwava KR, Santi M, Tooke L, Castagna K, Biegel JA, Bagatell R. Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion. Cancer Genet. 2014 Sep; 207(9):415-9.