Results 211 to 220 of about 2,310,607 (369)

Growth hormone deficiency in children with chromosomal abnormalities. [PDF]

, 1990
D P Davies
openalex   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source

Unclassified Chromosomal Abnormalities as an Indicator of Genomic Damage in Survivors of Hodgkin's Lymphoma. [PDF]

Cancers (Basel)
Ramos S, Molina B, Navarrete-Meneses MDP, Cervantes-Barragan DE, Lozano V, Frias S.   +5 more
europepmc   +1 more source

Impact of additional chromosomal abnormalities in patients with acute promyelocytic leukemia: 10-year results of the Japan Adult Leukemia Study Group APL97 study

, 2010
Takaaki Ono, Akihiro Takeshita, Masashi Iwanaga, Norio Asou, T Naoe, R Ohno, for the Japan Adult Leukemia Study Group   +6 more
openalex   +2 more sources

Versatile DNA Hydrogel‐Mediated Delivery of Ginsenoside‐Encapsulated Small Extracellular Vesicles to Boost Diabetic Wound Repair

Advanced Science, EarlyView.
This study presents a DNA hydrogel‐mediated delivery system, in which ginsenoside (GS) molecules are incorporated into small extracellular vesicles (sEV) secreted by mesenchymal stem cells (MSCs) and the formed complexes are then anchored in DNA hydrogels via aptamer‐CD63 affinity as “GS/sEV@DNAgels”, to improve diabetic wound repair.
Jianming Xing, Shuangyang Li, Yuning Wang, Xushuang Jia, Ruiting Lin, Xintong Liu, Dongxu Wang, Ning Cui, Peng Ji, Jiaqi Chen, Shengnian Wang, Guangzhe Li, Ye Teng, Da Liu, Ye Jin   +14 more
wiley   +1 more source

Analysis of Risk Factors and Prediction Model of Chromosomal Abnormalities in Embryos from Patients with Missed Miscarriage. [PDF]

Int J Womens Health
Wei M, Wei Q, Xu X, Liu S, Zhao X, Zeng Z, Dai Y, Ainiwaer P, Zhang J.   +8 more
europepmc   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency? [PDF]

Arch Gynecol Obstet
Su L, Zhao W, Huang H, Li Y, Xie X, Cai M, Zheng L, Xu L, Wu X.   +8 more
europepmc   +1 more source

Schizophrenia Genetics Modulates Clinical Depressive Features

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti, Daniel Souery, Siegfried Kasper, Joseph Zohar, Stuart Montgomery, Panagiotis Ferentinos, Dan Rujescu, Raffaele Ferri, Giuseppe Fanelli, Chiara Fabbri, Raffaella Zanardi, Francesco Benedetti, Bernhard T. Baune, Julien Mendlewicz   +13 more
wiley   +1 more source