Results 201 to 210 of about 409,247 (302)

Cytogenetic and Microarray Analysis Follow-Up of PGT-A Mosaic and Sex Discrepant Embryos During Pregnancy: Absence of Confirmation and Follow-Up Recommendations. [PDF]

Prenat Diagn
Kline LA, Nitibhon VA, Dyr B, Soster EL, Sussman A, Weinblatt VJ, Schwartz S.   +6 more
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Prenatal genetic findings and pregnancy outcomes in fetuses with congenital heart disease: a decade-long retrospective analysis at a tertiary hospital. [PDF]

Front Med (Lausanne)
Chen Q, Peng L, Cai Y, Qiu X, Wu Q, Lyu G, Ye F, Ling W.   +7 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

A rare balanced nonrobertsonian translocation involving acrocentric chromosomes: Chromosome abnormality of t(13;15)(p11.2;q22.1).

J Hum Reprod Sci, 2016
Rupa D, Neeraja K, Deepak C, Swarna M.
europepmc   +1 more source

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

Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study. [PDF]

In Vivo
Kouvidi E, Grigoriadou M, Leiletzoglou E, Kolialexi A.   +3 more
europepmc   +1 more source

Identification of senescence‐related genes in Parkinson's disease reveals candidate therapeutic targets and pathological processes

Animal Models and Experimental Medicine, EarlyView.
At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu, Tingting Liu, Xiangshu Cheng, Jianshe Wei   +3 more
wiley   +1 more source

Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali. [PDF]

Mol Cytogenet
Samassekou O, Goita MK, Ly M, Bathily M, Ongoiba C, Landouré G, Traoré M.   +6 more
europepmc   +1 more source

Chromosome Abnormalities [PDF]

Proceedings of the Royal Society of Medicine, 1962
openaire   +2 more sources