Results 181 to 190 of about 127,256 (329)

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Relationship between M-BCR breakpoint position in blast crisis and length of chronic phase in chronic myeloid leukemia [letter; comment] [PDF]

, 1992
B Stein, A Dobrovic
openalex   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

Breakpoint-chiasma interference in pericentric inversion heterokaryotypes. [PDF]

Genetics
Kapperud Ø.
europepmc   +1 more source

Screening of Hidden Pathogenic Structural Variants in PRKN

Movement Disorders, EarlyView.
Kensuke Daida, Guillaume Cogan, Christelle Tesson, Suzanne Lesage, Susen Schaake, Alexander Balck, Joanne Trinh, Katja Lohmann, Laksh Malik, Breeana Baker, Kimberly Paquette, Abraham Moller, Carolyn Sue, Manabu Funayama, Nobutaka Hattori, Andrew Singleton, Christine Klein, Alexis Brice, Kimberley J. Billingsley, Cornelis Blauwendraat   +19 more
wiley   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source

Forecasting CO₂ emissions in BRICS countries using the grey breakpoint prediction models. [PDF]

Carbon Balance Manag
Wang H, Guo X.
europepmc   +1 more source

Nonrandom distribution of breakpoints in the karyotypes of workers occupationally exposed to benzene.

, 1992
Maria Sąsiadek
openalex   +1 more source

Thiostrepton Suppresses the Progression of Rhabdomyosarcoma by Inhibiting the PI3K‐AKT Signaling Pathway

Pediatric Discovery, EarlyView.
The study establish TST as a multi‐mechanism PI3K‐AKT inhibitor for refractory RMS while validating Cmap‐driven drug repurposing for pediatric oncology. ABSTRACT Rhabdomyosarcoma (RMS), the most common pediatric soft tissue sarcoma with 5‐year survival below 30% in high‐risk/metastatic cases, was investigated through integrated bioinformatics analysis (
Yu Wang, Peng Hong, Zhiqiang Gao, Wei Ma, Zaihong Hu, Jie Lin, Kongkong Cui, Qinlin Shi, Xiao‐Mao Tian, Guanghui Wei   +9 more
wiley   +1 more source

Implications of Intravenous and Inhaled Amikacin Breakpoint Reporting for <i>Mycobacterium avium</i> Complex Pulmonary Isolates. [PDF]

Pathogens
Gill CM, Chamberland R, Abate G.
europepmc   +1 more source