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13q partial trisomy (q21-q)syndrome相关文献:
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR.
Best Pract Res Clin Haematol. 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153.
PMID:11640868
External Quality Assessment for Detection of Fetal Trisomy 21, 18, and 13 by Massively Parallel Sequencing in Clinical Laboratories.
Zhang R, Zhang H, Li Y, Han Y, Xie J, Li J.
J Mol Diagn. 2016 Mar;18(2):244-52. doi: 10.1016/j.jmoldx.2015.10.003. Epub 2015 Dec 30.
PMID:26747585
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.
Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB.
Am J Med Genet A. 2005 Jan 30;132A(3):310-3. doi: 10.1002/ajmg.a.30474.
PMID:15690377
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L.
Neurochirurgie. 2019 Nov;65(5):246-251. doi: 10.1016/j.neuchi.2019.09.014. Epub 2019 Sep 27.
PMID:31568780
Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group.
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB.
Pediatr Blood Cancer. 2023 May;70(5):e30251. doi: 10.1002/pbc.30251. Epub 2023 Feb 15.
PMID:36789545
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW.
Puvabanditsin S, Herrera-Garcia G, Gengel N, Hussein K, February M, Mayne J, Mehta R.
Genet Couns. 2016;27(1):35-41.
PMID:27192890
[Somatic Mutations of Acquired Aplastic Anemia].
Zhang ML, Chen WS, Han B.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2022 Jun;44(3):491-496. doi: 10.3881/j.issn.1000-503X.13381.
PMID:35791949
Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.
Abdul Rab S, Arabi TZ, Raheel HM, Sabbah BN, Zain AlAbidien NH, Alsemari A.
Heliyon. 2023 Feb 4;9(2):e13466. doi: 10.1016/j.heliyon.2023.e13466. eCollection 2023 Feb.
PMID:36820031
Clinical delineation of proximal and distal partial 13q trisomy.
Rogers JF.
Clin Genet. 1984 Mar;25(3):221-9. doi: 10.1111/j.1399-0004.1984.tb01982.x.
PMID:6200260
The Heterogeneity of 13q Deletions in Chronic Lymphocytic Leukemia: Diagnostic Challenges and Clinical Implications.
Xia C, Liu G, Liu J, Ronaghy A, Tadros S, Wang W, Fang H, Zhang S, Khoury JD, Tang Z.
Genes (Basel). 2025 Feb 22;16(3):252. doi: 10.3390/genes16030252.
PMID:40149404
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