Results 101 to 110 of about 36,869 (295)

Chromosomal Studies in Individuals with Infertility

Revista Cubana de Investigaciones Biomédicas, 2020
Introduction: Infertile individuals frequently have chromosomal alteration. Objective: To determine the chromosomal constitution of infertile individuals.Methodology: A cross-sectional descriptive study was carried out based on the results of the ...
Maria Elena de la Torre Santos, Manuela Herrera Martínez, Ana Esther Algora Hernández, Gisela Noche Gonzalez, Arlan Machado Rojas, Madeivy Paz Garcia, Diley Rodríguez Conde, Estrella Reyes Hernández, Carolina Machado de la Torre, Daniel González Benítez   +9 more
doaj  

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

Chromosomal control of pig populations in France: 2002-2006 survey [PDF]

, 2007
The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002.
Berland, Hélène-Marie, Billoux, Sébastien, Bonnet, Nathalie, Calgaro, Anne, Darré, Roland, Ducos, Alain, Garnier-Bonnet, Amélie, Mary, Nicolas, Pinton, Alain   +8 more
core   +4 more sources

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +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  

Polymorphism in glutathione S-transferase P1 is associated with susceptibility to chemotherapyinduced leukemia [PDF]

, 2001
Glutathione S-transferases (GSTs) detoxify potentially mutagenic and toxic DNA-reactive electrophiles, including metabolites of several chemotherapeutic agents, some of which are suspected human carcinogens.
Allan, J.M., Wild, C.P., Rollinson, S., Willett, E.V., Moorman, A.V., Dovey, G.J., Roddam, P.L., Roman, E., Cartwright, R.A., Morgan, G.J.   +9 more
core   +4 more sources

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Embryo aneuploidy and ivf outcomes in patients with different spermatozoa aneuploidy rates

Гинекология, 2013
Our goal was to study the 13, 18, 21, X, Y chromosomes aneuploidy rate in the embryos of the couples with different spermatozoa aneuploidy rate.In prospective cohort study 56 infertile couples were divided into 3 groups by the spermatozoa aneuploidy rate
S A Sokur, N V Dolgushina, Zh I Glinkina, A G Gorshkova, E A Kalinina   +4 more
doaj  

Meiotic recombination and male infertility: from basic science to clinical reality? [PDF]

, 2011
Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present
Hann, Michael C., Lau, Patricio E., Tempest, Helen G.   +2 more
core   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source