Results 31 to 40 of about 130,329 (268)

Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/46,XX at amniocentesis in a pregnancy with a favorable outcome.
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Meng-Shan Lee, Wayseen Wang   +8 more
doaj   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).

PLoS ONE, 2014
Brachydactyly type A2 (BDA2, MIM 112600) is characterized by the deviation and shortening of the middle phalange of the index finger and the second toe. Using genome-wide linkage analysis in a Chinese BDA2 family, we mapped the maximum candidate interval
Xudong Liu, Linghan Gao, Aman Zhao, Rui Zhang, Baohu Ji, Lei Wang, Yonglan Zheng, Bingfang Zeng, Robert K Valenzuela, Lin He, Jie Ma   +10 more
doaj   +1 more source

DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification

Haematologica, 2023
DIS3 gene mutations occur in approximately 10% of patients with multiple myeloma (MM); furthermore, DIS3 expression can be affected by monosomy 13 and del(13q), found in roughly 40% of MM cases. Despite the high incidence of DIS3 mutations and deletions,
Vanessa K. Favasuli, Domenica Ronchetti, Ilaria Silvestris, Noemi Puccio, Giuseppina Fabbiano, Valentina Traini, Katia Todoerti, Silvia Erratico, Alessia Ciarrocchi, Valentina Fragliasso, Domenica Giannandrea, Francesca Tumiatti, Raffaella Chiaramonte, Yvan Torrente, Palma Finelli, Eugenio Morelli, Nikhil C. Munshi, Niccolò Bolli, Antonino Neri, Elisa Taìana   +19 more
doaj   +1 more source

Avoiding chromosome pathology when replication forks collide [PDF]

, 2013
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ 2013 Macmillan Publishers Limited.Chromosome duplication normally initiates through the assembly of replication fork complexes at defined ...
Lloyd, RG, Nieduszynski, CA, Stockum, A, Upton, AL   +3 more
core   +1 more source

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +3 more sources

Redefining bacterial origins of replication as centralized information processors

Frontiers in Microbiology, 2015
In this review we stress the differences between eukaryotes and bacteria with respect to their different cell cycles, replication mechanisms and genome organizations.
Gregory eMarczynski, Thomas eRolain, James eTaylor   +2 more
doaj   +1 more source

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]

, 2012
The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia, De Caris, Laura, Tummala, Hemanth   +2 more
core   +4 more sources

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

, 2012
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth, Sabatti, Chiara, Zhang, Zhongyang   +2 more
core   +4 more sources