Results 231 to 240 of about 48,766 (300)

Lessons from clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley   +1 more source

Plasma Elastase Screening in Hematological Disease Reveals Its Potential as a Diagnostic and Prognostic Biomarker in Hematological Malignancies

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Neutrophil‐extracellular traps are net‐like material released by triggered neutrophils and composed of decondensed chromatin linked to nuclear proteins. Elastase, one of the fourth most represented neutrophil‐specific serine proteases stored in azurophil granules of naïve neutrophils, exerts various actions, including degradation ...
Pasqualina Scala, Anna Maria Della Corte, Angela Bertolini, Marisa Gorrese, Francesca Picone, Bianca Serio, Danilo De Novellis, Laura Mettivier, Luca Pezzullo, Maria Carmen Martorelli, Denise Morini, Matteo D'Addona, Bianca Cuffa, Carmine Selleri, Valentina Giudice   +14 more
wiley   +1 more source

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy. [PDF]

Mol Cytogenet
Turtinen T, Isohanni P, Anttonen AK, Huhti L, Pylkäs K, Tikkanen M, Hakonen AH, Strang-Karlsson S, Mantere T.   +8 more
europepmc   +1 more source

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq. [PDF]

BMC Pregnancy Childbirth
Chang J, Li M, Jiang Y, Zhou X, Hao N, Yu Y, Lü Y, Qi Q.   +7 more
europepmc   +1 more source

Characterization of cytogenetic abnormalities in Lebanese multiple myeloma patients. [PDF]

BMC Cancer
Najem G, Kharsa C, Kourie HR, Kattan J, Nasr F, El Karak F, Wakim J, Ghosn M, Chahine G, Hanna C, El Ferkh R, Farra C, Chebly A.   +12 more
europepmc   +1 more source

Pangenome analysis reveals the genetic mechanism underlying high‐altitude adaptation in Qinghai–Xizang (Tibet) Plateau Rhododendron

Journal of Integrative Plant Biology, EarlyView.
Pan‐genome analysis reveals that high‐altitude Rhododendron species resist alpine cold stress by rapidly sensing and engaging the chilling response pathway and genes that directly and indirectly protect the plant from UV radiation. Heritable genomic features such as long terminal repeats contribute to the adaptive diversification of Rhododendron ...
Haoyang Zhou, Zhongping Xu, Fanhuang Zeng, Haiyu Sang, Zhenhua Liu, Miao Sun, Qiang Fu, Kaige Zhao, Daming Tan, Manzhu Bao, Shuangxia Jin, Xiuqun Liu   +11 more
wiley   +1 more source

Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia. [PDF]

Ann Lab Med
Kim HY, Kim B, Park MS, Park JH, Ju HY, Yoo KH, Jang JH, Jung CW, Kim HJ.   +8 more
europepmc   +1 more source

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

Appl Clin Genet
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A.   +9 more
europepmc   +1 more source

Human selection maintains karyotype integrity of highly unstable genomic cultivated autotetraploid potato (<i>Solanum tuberosum</i>). [PDF]

Sci Adv
Yang L, Bai Y, Chao G, Zhao K, Xu J, Sun M, Zhang H, Niu Y, Li K, Xiong Z, Cao Y, Wang F, Hai B, Cao C, Yin Y, Lin T, Wang Y, Gong X, Wu L, Jiang J, Xiong Z.   +20 more
europepmc   +1 more source