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Items: 1 to 20 of 655

1.

An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.

Lovatel VL, de Souza DC, Alvarenga TF, Capela de Matos RR, Diniz C, Schramm MT, Llerena Júnior JC, Silva MLM, Abdelhay E, de Souza Fernandez T.

Mol Cytogenet. 2018 Jul 11;11:40. doi: 10.1186/s13039-018-0389-x. eCollection 2018.

2.

Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction.

An G, Lin Y, Xu LP, Huang HL, Liu SP, Yu YH, Yang F.

Mol Cytogenet. 2018 Jun 4;11:33. doi: 10.1186/s13039-018-0382-4. eCollection 2018.

3.

Characterization of chromosome composition of sugarcane in nobilization by using genomic in situ hybridization.

Yu F, Wang P, Li X, Huang Y, Wang Q, Luo L, Jing Y, Liu X, Deng Z, Wu J, Yang Y, Chen R, Zhang M, Xu L.

Mol Cytogenet. 2018 Jun 7;11:35. doi: 10.1186/s13039-018-0387-z. eCollection 2018.

4.

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

Lovrecic L, Gnan C, Baldan F, Franzoni A, Bertok S, Damante G, Isidor B, Peterlin B.

Mol Cytogenet. 2018 Jun 20;11:39. doi: 10.1186/s13039-018-0388-y. eCollection 2018.

5.

Erratum: Publisher Correction: Is DNA methylation the new guardian of the genome?

Hoffman RM.

Mol Cytogenet. 2018 Jun 13;11:38. doi: 10.1186/s13039-018-0385-1. eCollection 2018.

6.

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).

Chen JK, Liu P, Hu LQ, Xie Q, Huang QF, Liu HL.

Mol Cytogenet. 2018 Jun 13;11:37. doi: 10.1186/s13039-018-0381-5. eCollection 2018.

7.

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Aristidou C, Theodosiou A, Ketoni A, Bak M, Mehrjouy MM, Tommerup N, Sismani C.

Mol Cytogenet. 2018 Jun 7;11:34. doi: 10.1186/s13039-018-0384-2. eCollection 2018.

8.

An improved method for inducing prometaphase chromosomes in plants.

Setiawan AB, Teo CH, Kikuchi S, Sassa H, Koba T.

Mol Cytogenet. 2018 May 10;11:32. doi: 10.1186/s13039-018-0380-6. eCollection 2018.

9.

Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems.

Ye CJ, Regan S, Liu G, Alemara S, Heng HH.

Mol Cytogenet. 2018 May 10;11:31. doi: 10.1186/s13039-018-0376-2. eCollection 2018. Review.

10.

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.

Yokoyama E, Del Castillo V, Sánchez S, Ramos S, Molina B, Torres L, Navarro MJ, Avila S, Castrillo JL, García-De Teresa B, Asch B, Frías S.

Mol Cytogenet. 2018 May 9;11:30. doi: 10.1186/s13039-018-0374-4. eCollection 2018.

11.

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

Tesner P, Drabova J, Stolfa M, Kudr M, Kyncl M, Moslerova V, Novotna D, Kremlikova Pourova R, Kocarek E, Rasplickova T, Sedlacek Z, Vlckova M.

Mol Cytogenet. 2018 May 9;11:29. doi: 10.1186/s13039-018-0377-1. eCollection 2018.

12.

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.

Marsudi BA, Kartapradja H, Paramayuda C, Batubara JRL, Harahap AR, Marzuki NS.

Mol Cytogenet. 2018 May 8;11:28. doi: 10.1186/s13039-018-0379-z. eCollection 2018.

13.

Molecular cytogenetic identification of three rust-resistant wheat-Thinopyrum ponticum partial amphiploids.

Pei Y, Cui Y, Zhang Y, Wang H, Bao Y, Li X.

Mol Cytogenet. 2018 May 2;11:27. doi: 10.1186/s13039-018-0378-0. eCollection 2018.

14.

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Kashevarova AA, Belyaeva EO, Nikonov AM, Plotnikova OV, Skryabin NA, Nikitina TV, Vasilyev SA, Yakovleva YS, Babushkina NP, Tolmacheva EN, Lopatkina ME, Savchenko RR, Nazarenko LP, Lebedev IN.

Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018.

15.

Correction to: Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Zhang K, Huang Y, Dong R, Yang Y, Wang Y, Zhang H, Zhang Y, Gai Z, Liu Y.

Mol Cytogenet. 2018 Apr 23;11:25. doi: 10.1186/s13039-018-0373-5. eCollection 2018.

16.

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.

Luo A, Cheng D, Yuan S, Li H, Du J, Zhang Y, Yang C, Lin G, Zhang W, Tan YQ.

Mol Cytogenet. 2018 Apr 4;11:24. doi: 10.1186/s13039-018-0371-7. eCollection 2018.

17.

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Armstrong ME, Weaver DD, Lah MD, Vance GH, Landis BJ, Ware SM, Helm BM.

Mol Cytogenet. 2018 Mar 27;11:23. doi: 10.1186/s13039-018-0372-6. eCollection 2018.

18.

Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44).

Moassass F, Wafa A, Liehr T, Al-Ablog A, Al Achkar W.

Mol Cytogenet. 2018 Mar 13;11:22. doi: 10.1186/s13039-018-0370-8. eCollection 2018.

19.

3C and 3C-based techniques: the powerful tools for spatial genome organization deciphering.

Han J, Zhang Z, Wang K.

Mol Cytogenet. 2018 Mar 9;11:21. doi: 10.1186/s13039-018-0368-2. eCollection 2018. Review.

20.

Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.

Liehr T, Schreyer I, Kuechler A, Manolakos E, Singer S, Dufke A, Wilhelm K, Jančušková T, Čmejla R, Othman MAK, Al-Rikabi AH, Mrasek K, Ziegler M, Kankel S, Kreskowski K, Weise A.

Mol Cytogenet. 2018 Mar 9;11:20. doi: 10.1186/s13039-018-0369-1. eCollection 2018.

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