Results 101 to 110 of about 226,802 (259)

A Four‐Year Retrospective Study of Amniocentesis in a Tertiary Care Center in South India—Lessons Learnt

Journal of Pregnancy, Volume 2025, Issue 1, 2025.
Background: Amniocentesis (AC) remains the most commonly performed prenatal invasive diagnostic test. The data available till now have been collected before the era of high‐end ultrasound machines, NIPS, and chromosomal microarrays. In selected cases, whole‐exome sequencing is also offered prenatally.
Jetti Gayatri Jahnavi, Roopa Padavagodu Shivananda, Akhila Vasudeva, Nivedita Hegde, Rashmi Natarajan, Nidhi Chaudhary   +5 more
wiley   +1 more source

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities

Prenatal Diagnosis, Volume 44, Issue 13, Page 1585-1592, December 2024.
ABSTRACT Objective To investigate the association of agenesis of the ductus venosus (ADV) with genetic abnormalities using genetic studies—Chromosomal Microarray Analysis (CMA) and Exome Sequencing (ES). Design Retrospective study of all fetuses diagnosed with ADV between January 2013 and December 2022 in a tertiary center. Results ADV was diagnosed in
Yarin Mash, Ron Bardin, Yinon Gilboa, Yossi Geron, Asaf Romano, Eran Hadar, Dana Brabbing Goldstein, Bella Davidov, Ohad Houri   +8 more
wiley   +1 more source

The Clinical Effectiveness of Preimplantation Genetic Diagnosis for Chromosomal Translocation Carriers: A Meta-analysis

Global Medical Genetics, 2020
Published data on the relationship between pregnancy outcomes of preimplantation genetic diagnosis (PGD) in translocation carriers have implicated inconclusive results.
Manijeh Mahdavi, Seyedeh M. Sharafi, Seyede S. Daniali, Roya Riahi, Majid Kheirollahi   +4 more
doaj   +1 more source

Chromosomal anomalies and infertility in farm animals: a review [PDF]

, 2014
Veterinary cytogenetics is an area of genetics that deals with normal or abnormal chromosomes of animals. Chromosome abnormalities in cattle can cause significant adverse effects on fertility through failure of production of viable gametes or early ...
Yimer, Nurhusien, Yusoff, Rosnina
core  

Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)

Clinical Genetics, Volume 106, Issue 6, Page 776-781, December 2024.
We report two fetal cases of glutathione synthetase deficit, presenting with a severe polymalformative syndrome including limb anomalies. Both fetuses are compound heterozygous for two GSS variants: an out‐of‐frame deletion of the exon 3 and a reported missense substitution. 5‐oxoproline levels in amniotic fluid were elevated.
Jeanne Jury, Jean‐François Benoist, Madeleine Joubert, Chloé Quelin, Thomas Besnard, Solène Conrad, Claudine Le Vaillant, Stéphane Bézieau, Bertrand Isidor, Tania Attié‐Bitach, Benjamin Cogné, Marie Vincent   +11 more
wiley   +1 more source

Shifts in Chromosome Evolution Rates Shape the Karyotype Patterns of Leafcutting Ants

Ecology and Evolution, Volume 14, Issue 11, November 2024.
Modern phylogenetic methods were used to explore how chromosome number and other karyotypic traits vary across species. The focus was on testing whether karyotypic traits follow a Brownian motion model (indicating neutral changes) or are influenced by phylogenetic constraints.This research elucidates the mechanisms underlying chromosomal evolution and ...
Danon Clemes Cardoso, Maykon Passos Cristiano   +1 more
wiley   +1 more source

Robertsonian chromosomes and the nuclear architecture of mouse meiotic prophase spermatocytes [PDF]

, 2014
BACKGROUND: The nuclear architecture of meiotic prophase spermatocytes is based on higher-order patterns of spatial associations among chromosomal domains from different bivalents.
Catalina Manieu, Eliana Ayarza, Jesús Page, Julio López-Fenner, Marcia Manterola, Marisel González, Raúl Fernández-Donoso, Soledad Berríos   +7 more
core   +2 more sources

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and
Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole D. Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel V. DiGiacomo, Kara M. Masse, Sarah M. Kadzielski, Claire A. Zar‐Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen A. Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, MGH Myhre Syndrome Study Group, Luisa Paredes Acosta, Jennifer A. Bassetti, Sarah Bowdin, Joy A. Bress, Joseph A. Camarda, Joanne S. Chiu, C. Eduardo Corrales, Gregory Costain, Mary Beth P. Dinulos, Rajiv Devanagondi, Emily S. Doherty, John Dykes, Ann‐Christine Duhaime, Robert F. English, Elizabeth Fieg, Nora D. B. Friedman, Carl P. Garabedian, Samantha Glowacki, Barbara R. Gottlieb, Mary Hope Griffin, Frances J. Hayes, Stephanie R. Hicks, Alicia M. Hinze, Brigette A. Jason, Joel Krier, Kristen Lindgren, Michael Lyons, Adnan Majid, Hannah C. Mannem, Marie McDonald, Vinod Misra, Amy Morgan, Barbara J. Nath, Michele Ploutz, Eloise J. Prijoles, Margaret B. Pulsifer, Alicia M. Quesnel, Farrah Rajabi, Mersedeh Rohanizadegan, Ana Maria Rosales, Holly Rothermel, Edith Schussler, Elizabeth A. Sellars, Joseph Shieh, Stephanie Sherrill, Heidi Taska‐Tench, Matthew Thompson, George E. Tiller, Stephanie E. Vallee, David Viskochil, Stephanie Ware, Rachel C. Whooten, Samuel Yang, Elaine H. Zackai, Dala Zakaria   +94 more
wiley   +1 more source

Robertsonian translocation (13;14) and its clinical manifestations: a literature review.

Reproductive Biomedicine Online, 2022
E. Tunç, Seda Ilgaz
semanticscholar   +1 more source

53BP1 can limit sister-chromatid rupture and rearrangements driven by a distinct ultrafine DNA bridging-breakage process [PDF]

, 2018
Chromosome missegregation acts as one of the driving forces for chromosome instability and cancer development. Here, we find that in human cancer cells, HeLa and U2OS, depletion of 53BP1 (p53-binding protein 1) exacerbates chromosome non-disjunction ...
A Biebricher, A Coquelle, A Janssen, A Moreno, A Xie, AM Casper, B McClintock, B Nera, B Wang, BA Weaver, BC Turner, C Baumann, C Escribano-Diaz, C Lengauer, C Lukas, D Jullien, F Ochs, H Wang, IM Ward, IM Ward, J Karlseder, J Maciejowski, J Maciejowski, JA Harrigan, JM Spence, JR Chapman, K Crasta, KL Chan, KL Chan, KL Chan, KL Chan, LC Funk, M Macville, M Schwartz, M Virgilio Di, M Zimmermann, MF Arlt, N Dimitrova, P Baumann, R Beroukhim, RA Burrell, RC Hengeveld, S Sengupta, S Ying, SF Bunting, SJ Xia, T Caspersson, T Davoli, T Taniguchi, TW Glover, V Naim, V Naim, V Tripathi, V Tripathi   +53 more
core   +2 more sources