Results 161 to 170 of about 105,581 (338)

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 606-618, March 2026.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

A Case of Early Onset Scoliosis with Trisomy 1q and Monosomy 21q

Spine Surgery and Related Research
Yuta Fukase, Kota Watanabe, Kazuki Takeda, Toshiki Okubo, Satoshi Suzuki, Osahiko Tsuji, Narihito Nagoshi, Mitsuru Yagi, Masaya Nakamura   +8 more
doaj   +1 more source

Trisomy [Abridged] [PDF]

, 1968
C G Keith
openalex   +1 more source

Integrative Genomic Profiling of Pediatric Solid Tumors Reveals Clinically Relevant Variants and Chromosomal Arm Aneuploidies Signatures

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Background Pediatric malignancies have emerged as the leading cause of disease‐related mortality in children, exhibiting distinct etiological and molecular characteristics compared to adult cancers. Despite advances in genomic profiling, the molecular landscape of pediatric solid tumors, particularly in Chinese populations, remains ...
Bingxiao Yan, Jinhu Wang, Jieni Xiong, Shuangai Liu, Yinbing Tang, Ziqi He, Hujin Yan, Bize Guo, Chen Chen, Yijie Zhang, Qinfang Zhu, Jiabin Cai, Min He, Xuan Wu, Junqing Mao, Lifeng Zhang, Weizhong Gu, Zhu Zhu, Zheming Li, Rui Xiao, Qiang Shu, Gang Yu, Ting Tao   +22 more
wiley   +1 more source

Kawasaki Disease in a Child With Trisomy 18 Treated With Initial Combination Therapy, Including Cyclosporine. [PDF]

Case Rep Pediatr
Sahara Y, Yagi N, Watanabe Y, Aoki K, Iwaku T, Tominaga M, Ikeda H.   +6 more
europepmc   +1 more source

Co‐Mutation of ASXL1 and KRAS Defines a Novel Ultra‐Adverse‐Risk Subtype of Acute Myeloid Leukemia in a Large‐Scale Cohort

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Background ASXL1 mutation acute myeloid leukemia represents a clinically aggressive subtype with heterogeneous outcomes. Current evidence remains inconclusive regarding the prognostic relevance of the KRAS mutation partner in AML with ASXL1 mutation.
Yijing Zhao, Ting Zhao, Feifei Tang, Xiaodong Mo, Yingjun Chang, Xiaosu Zhao, Lanping Xu, Yu Wang, Xiaohui Zhang, Hao Jiang, Qian Jiang, Xiaojun Huang, Yuqian Sun   +12 more
wiley   +1 more source

Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities. [PDF]

PLoS One
Fu G, Hu S.
europepmc   +1 more source

Persistent right umbilical vein in trisomy 18: sonographic observation.

, 1998
Luc De Catte, Kaan Osmanagaoglu, I De Schrijver   +2 more
openalex   +2 more sources

800 ANAIXSIS OF DNA HAPLOTYPES SUGGESTS A GENETIC PREDISPOSITION TO TRISOMY 21 ASSOCIATED WITH DNA SEQUENCES ON CHROMOSOME 21 [PDF]

, 1985
Stylianos E. Antonarakis, Smita Kittur, Catherine Metaxotou, Achyut S. Patel, P Watkins, H H Kazazian   +5 more
openalex   +1 more source

Jacob's Syndrome and Hearing Loss: A Case Study

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.
Houra Bagheri, Ali Kouhi, Mojtaba Alidoust, Amineh Koravand   +3 more
wiley   +1 more source