Results 91 to 100 of about 148,643 (304)

The lowest chromosome number in the family Pteromalidae (Hymenoptera: Chalcidoidea): the karyotype and other genetic features of Pachycrepoideus vindemmiae (Rondani, 1875)

open access: yesВавиловский журнал генетики и селекции
Various genetic features of the hitman strain of the widespread parasitoid of Drosophilidae (Diptera), Pachycrepoideus vindemmiae (Rondani, 1875) (Pteromalidae, Pachyneurinae) were studied.
V. E. Gokhman   +3 more
doaj   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

Variation of morphology, karyotype and protein band pattern of adenium (Adenium obesum) varieties [PDF]

open access: yes, 2009
Abstrak. Hastuti D, Suranto, Setyono P. 2009. Variasi morfologi, karyotipe dan pola pita protein pada berbagai varietas kamboja jepang (Adenium obesum). Nusantara Bioscience 1: 78-83.
HASTUTI, DWI, SURANTO,, SETYONO, PRABANG
core   +1 more source

A case of intersex occurrence in Steindachneridion parahybae (Steindachner, 1877) (Siluriformes: Pimelodidae) under captivity condition: A cytogenetic and morphological study [PDF]

open access: yes, 2016
Poco se sabe sobre la biología reproductiva de Steindachneridion parahybae , una especie de teleósteo gonocorístico en peligro de extinción que habita la cuenca del río Paraíba do Sul y en éste trabajo se describe por primera vez la aparición de ...
Caneppele, Danilo   +4 more
core   +2 more sources

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence

open access: yesJournal of Biochemical and Clinical Genetics
Background Pentasomy involving duplication of isochromosome 21;der(21;21)(q10;q10) is a rare cytogenetic abnormality linked primarily to acute lymphoblastic leukemia (ALL) and less frequently to acute myeloid leukemia (AML) or myelodysplastic syndromes ...
Suhaib Mohammad Ali Abunaser   +2 more
doaj   +1 more source

Genetic and morphology analysis among the pentaploid F1 hybrid fishes (Schizothorax wangchiachii ♀ × Percocypris pingi ♂) and their parents

open access: yesAnimal, 2019
Triploid and pentaploid breeding is of great importance in agricultural production, but it is not always easy to obtain double ploidy parents. However, in fishes, chromosome ploidy is diversiform, which may provide natural parental resources for triploid
H.R. Gu   +9 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome

open access: yesBiomedicines
Background/Objectives: Genetic abnormalities are critical for the diagnosis, prognosis, and therapeutic management of myelodysplastic syndromes (MDS). This study aims to evaluate the clinical utility of Multiplex Ligation-dependent Probe Amplification ...
Radostina Valeva   +4 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

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