Results 51 to 60 of about 3,485 (190)

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience

Andrology, Volume 13, Issue 5, Page 1078-1092, July 2025.
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Manon S. Oud, Nicole de Leeuw, Dominique F. C. M. Smeets, Liliana Ramos, Godfried W. van der Heijden, Raoul G. J. Timmermans, Maartje van de Vorst, Tom Hofste, Marlies J. E. Kempers, Marijn F. Stokman, Kathleen W. M. D'Hauwers, Brigitte H. W. Faas, Dineke Westra   +12 more
wiley   +1 more source

Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present genetic counseling, prenatal diagnosis and postnatal follow-up of 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY at amniocentesis in a pregnancy with a favorable fetal outcome.
Chih-Ping Chen, Jenn-Jhy Tseng, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang   +7 more
doaj   +1 more source

Marker‐assisted selection for combining stem rust and stripe rust resistance in wheat using rye derived genes

Crop Science, Volume 65, Issue 3, May/June 2025.
Abstract Stem rust and stripe rust are among the most devastating wheat (Triticum aestivum L.) diseases globally. This study used marker‐assisted selection to incorporate two resistance genes, Sr59 and YrSLU (where SLU is Swedish University of Agriculture Science), derived from rye (Secale cereale L.), into elite wheat backgrounds.
Mahboobeh Yazdani, Rimsha Ashraf, Eva Johansson, Pernilla Vallenback, Mogens S. Hovmøller, Mehran Patpour, Mahbubjon Rahmatov   +6 more
wiley   +1 more source

Coincidence of Trisomy 18 and Robertsonian (13; 14) [PDF]

Iranian Journal of Public Health, 2012
This case report presents a coincidence of trisomy 18 and balanced Robertsonian translocation (13;14). Aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. In a 31 years-old healthy woman with a history of
A Alavi, S Mousavi, A Jamal
doaj   +2 more sources

The Economic Burden of Chromosome Translocations and the Benefits of Enhanced Screening for Cattle Breeding

Animals, 2022
The cattle breeding industry, through both of its derivatives (dairy and beef), provides 81% of milk and 22% of meat required globally. If a breeding bull is sub-fertile, this impacts herd conception and birth rates, and it is generally accepted that ...
Nicole M. Lewis, Carla Canedo-Ribeiro, Claudia C. Rathje, Rebecca L. Jennings, Maxim Danihel, Lisa M. Bosman, Giuseppe Silvestri, Darren K. Griffin   +7 more
doaj   +1 more source

Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age

Journal of Clinical Laboratory Analysis, Volume 39, Issue 9, May 2025.
The pregnant women with advanced maternal age who underwent amniocentesis at the Prenatal Diagnosis Center of Huizhou Central People's Hospital were enrolled in this study. The women were grouped based on different age ranges and prenatal diagnosis factor.
Caihong Liu, Yan Lu, Baohui Zhang, Liucui Yu, Jing He, Yan Ji   +5 more
wiley   +1 more source

Generation of an iPSC line (HRMSDUi001-A) from an azoospermic patient with 45,XY,der(13;14)(q10;q10) karyotype

Stem Cell Research, 2021
Robertsonian translocation between chromosomes 13 and 14 is reported to be a cause of male infertility. Here, we established an iPSC line (HRMSDUi001-A) from an azoospermic patient with 45,XY,der(13;14)(q10;q10) karyotype.
Liqiang Guo, Zichao Zhao, Shengtian Zhao, Feng Kong, Mingzhen Yuan   +4 more
doaj   +1 more source

Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics

Alzheimer's &Dementia, Volume 21, Issue 4, April 2025.
Abstract Individuals with Down syndrome (DS) are highly susceptible to Alzheimer's disease (AD). The integration of genomics, transcriptomics, epigenomics, proteomics, and metabolomics enables unprecedented understanding of DS‐AD, offering a detailed picture of this complex issue. The vast ‐omics data also present challenges that reflect the complexity
Hui‐Qi Qu, Yichuan Liu, John J. Connolly, Frank D. Mentch, Charlly Kao, Hakon Hakonarson   +5 more
wiley   +1 more source

Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes

BioEssays, Volume 47, Issue 4, April 2025.
Genetic variation within the multi‐copy, multi‐locus ribosomal DNA (rDNA) can contribute to human complex trait variability. This variation takes the form of copy number, structural arrangement, and sequence differences. This review summarizes what is currently known about human rDNA variation, its causes, and its association with phenotypic outcomes ...
Francisco Rodriguez‐Algarra, Elliott Whittaker, Sandra del Castillo del Rio, Vardhman K. Rakyan   +3 more
wiley   +1 more source

Acute myeloid leukemia with RAM immunophenotype: A report of three patients and comprehensive literature review

eJHaem, Volume 6, Issue 1, February 2025.
Abstract Introduction The RAM immunophenotype (IP) in acute myeloid leukemia (AML) is defined by blasts with bright CD56 and weak‐to‐negative CD45, HLA‐DR, and CD38 expression. A RAM IP predominantly presents in infants who have “standard‐risk disease” under current criteria but, when treated accordingly, have devastatingly high rates of minimal ...
Xenia Parisi, Anindita Ghosh, L. Jeffrey Medeiros   +2 more
wiley   +1 more source