Results 91 to 100 of about 147,278 (285)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence

Journal of Biochemical and Clinical Genetics
Background Pentasomy involving duplication of isochromosome 21;der(21;21)(q10;q10) is a rare cytogenetic abnormality linked primarily to acute lymphoblastic leukemia (ALL) and less frequently to acute myeloid leukemia (AML) or myelodysplastic syndromes ...
Suhaib Mohammad Ali Abunaser, Anurita Pais, Cigdem Pala Ozturk   +2 more
doaj   +1 more source

Genetic and morphology analysis among the pentaploid F1 hybrid fishes (Schizothorax wangchiachii ♀ × Percocypris pingi ♂) and their parents

Animal, 2019
Triploid and pentaploid breeding is of great importance in agricultural production, but it is not always easy to obtain double ploidy parents. However, in fishes, chromosome ploidy is diversiform, which may provide natural parental resources for triploid
H.R. Gu, Y.F. Wan, Y. Yang, Q. Ao, W.L. Cheng, S.H. Deng, D.Y. Pu, X.F. He, L. Jin, Z.J. Wang   +9 more
doaj   +1 more source

Molar pregnancy and co-existent foetus: A report of two cases [PDF]

, 2009
Molar pregnancy with a co-existent foetus will lead to preterm labour, severe preeclampsia or bleeding in most of the cases and may need urgent intervention.
Boustani, P., Kashani, E., Roshandel, D., Roshandel, G.   +3 more
core  

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

Multimaterial Triphasic Scaffold Replicates Enthesis Microenvironment to Modulate Early Cell Responses

Advanced NanoBiomed Research, EarlyView.
A bioinspired triphasic scaffold integrating 3D printed polycaprolactone and electrospun poly(lactic‐co‐glycolic acid) is developed to replicate the organization of the tendon‐to‐bone enthesis. Cyclic mechanical stimulation induces spatially defined cell morphology and lineage‐related gene expression in human mesenchymal stem cells, highlighting the ...
Ginevra Pegollo, Simone Micalizzi, Girish Pattappa, Philipp Stahlhut, Jürgen Groll, Carmelo De Maria, Denitsa Docheva, Giovanni Vozzi   +7 more
wiley   +1 more source

Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome

Biomedicines
Background/Objectives: Genetic abnormalities are critical for the diagnosis, prognosis, and therapeutic management of myelodysplastic syndromes (MDS). This study aims to evaluate the clinical utility of Multiplex Ligation-dependent Probe Amplification ...
Radostina Valeva, Maria Levkova, Dinnar Yahya, Mari Hachmeriyan, Ilina Micheva   +4 more
doaj   +1 more source

Homologies in human and Macasa fuscata chromosomes revealed by in situ suppression hybridization with human chromosome specific DNA libraries [PDF]

, 1992
We established chromosomal homologies between all chromosomes of the human karyotype and that of an old world monkey (Macaca fuscata) by chromosomal in situ suppression (CISS) hybridization with human chromosome specific DNA libraries.
Cremer, Thomas, Jauch, Anna, Stanyon, Roscoe, Wienberg, Johannes   +3 more
core   +1 more source

Establishment of Interspecies Somatic Cell Nuclear Transfer and Transgene‐Free Inducible Pluripotent Stem Cells for Versatile Conservation of the Germplasm Resource of Wild Boar

Animal Research and One Health, EarlyView.
Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao, Xinyi Zhou, Shigang Gu, Jianbo Li, Jing Wang, Yurong Zhang, Wenxuan Zhao, Xinhua Wei, Liting Lu, Quanmin Zhao, Yongye Huang, Dawei Yu   +11 more
wiley   +1 more source

Deciduous teeth eruption in full and mosaic type of Down’s Syndrome patient

Dental Journal, 2005
The purpose of this study was to examined the correlation of deciduous teeth eruption with the karyotipe of) Down’s Syndrome patient. Full and Mosaic karyotype in Down’s Syndrome (DS) patients have different prognostics.
Willyanti Sjarif
doaj   +1 more source