Results 121 to 130 of about 92,178 (328)

How Cytoskeletal Disorders Contribute to Errors in the Chromosomal Segregation of Oocytes and Cleavage Stage Embryos

open access: yesJournal of Developmental Biology
Observations of the processes of oogenesis, fertilization, and the earliest embryonic development have given us the opportunity to estimate the importance of chromosomal distribution errors for the success of mammalian reproduction.
Stefka Delimitreva, Irina Chakarova
doaj   +1 more source

Chromosomal Speciation Revisited: Modes of Diversification in Australian Morabine Grasshoppers (Vandiemenella, viatica Species Group)

open access: yesInsects, 2011
Chromosomal rearrangements can alter the rate and patterns of gene flow within or between species through a reduction in the fitness of chromosomal hybrids or by reducing recombination rates in rearranged areas of the genome.
Steven J. B. Cooper   +2 more
doaj   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

A Developmentally Regulated Deletion Element with Long Terminal Repeats Has \u3cem\u3eCis\u3c/em\u3e-Acting Sequences in the Flanking DNA [PDF]

open access: yes, 2000
Approximately 6000 specific DNA deletion events occur during development of the somatic macronucleus of the ciliate Tetrahymena. The eliminated Tlr1 element is 13 kb or more in length and has an 825 bp inverted repeat near the rearrangement junctions.
Karrer, Kathleen M., Patil, Namrata S.
core   +1 more source

New chromosome abnormalities and lack of BCL‐6 gene rearrangements in Argentinean diffuse large B‐cell lymphomas [PDF]

open access: bronze, 2006
Roxana Cerretini   +3 more
openalex   +1 more source

Gonadal development in scorpion mud‐turtles, Kinosternon scorpioides, in a controlled environment

open access: yesThe Anatomical Record, EarlyView.
Stage 20 was identified as the critical point for gonadal differentiation in Kinosternon scorpioides, providing key insights into sex determination. These findings enhance conservation strategies by supporting reproductive management and population viability in both in situ and ex situ programs. Abstract Research on gonadal development including sexual
Brenda Braga   +4 more
wiley   +1 more source

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