Results 61 to 70 of about 13,117 (209)

Successful management of ectopic kidney stones in a patient with situs inversus totalis: a rare case report

open access: yesBMC Urology, 2022
Background Situs inversus totalis is a very rare congenital anatomical variation, in which all thoracic and abdominal organs are right-left inverted.
Marah Mansour   +5 more
doaj   +1 more source

Unity in the wild variety of nature, or just variety? [PDF]

open access: yes, 2005
Although there are some common underlying mechanisms for many nonhuman behavioural asymmetries, the evidence at present is not compelling for commonalities in cerebral organisation across vertebrates.
McManus, IC
core   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

open access: yesClinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab   +7 more
wiley   +1 more source

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]

open access: yes, 2016
The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina   +8 more
core   +2 more sources

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

open access: yesThe FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio   +12 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

open access: yesPaediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman   +23 more
wiley   +1 more source

Situs inversus totalis

open access: yesRevista de Ciencias Médicas de Pinar del Río, 2016
Introducción: el situs inversus es una rara malformación congénita que puede afectar a varios órganos y tiene un carácter hereditario. Caso clínico: se trata de un paciente con situs inversus totalis en una paciente atendida en el hospital de Patacamaya,
Magaly Gort Hernández   +1 more
doaj  

Video Documentary of Situs Inversus Totalis in a Male Cadaver Module 5: Lungs and Heart

open access: yesMedEdPORTAL, 2014
Situs inversus totalis is a condition in which the internal organs of the human body are transposed to opposite sides. On average, 1 in 20,000 individuals has situs inversus totalis.
Gregory Casey, Lisa Campeau
doaj   +1 more source

Dextrocardia with situs inversus totalis: coronary artery bypass grafting [PDF]

open access: yes, 2012
Dextrocardia with situs inversus is a rare congenital abnormality involving a left-handed mal rotation of the visceral organs. The incidence of coronary artery disease is the same as that in the general population.
Anis, Mariam, Darr, Umer, Hashmi, Salila
core   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

open access: yesJournal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert   +4 more
wiley   +1 more source

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