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   Articles with "agenesis" as a keyword



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Tracheal agenesis: optimization of computed tomography diagnosis by airway ventilation

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recommendations! Published in 2017 at "Pediatric Radiology"

DOI: 10.1007/s00247-017-4024-5

Abstract: Tracheal agenesis is a rare and often lethal congenital defect that leads to airway emergency at birth. Computed tomography (CT) is the modality of choice to evaluate anomalous tracheal anatomy. The absence of spontaneous aeration… read more here.

Keywords: tracheal agenesis; computed tomography; airway ventilation; agenesis ... See more keywords
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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

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recommendations! Published in 2021 at "Human Genetics"

DOI: 10.1007/s00439-021-02344-6

Abstract: During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different lung… read more here.

Keywords: agenesis; complex genomic; shh locus; lung ... See more keywords
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Association of tooth agenesis with dental anomalies in young subjects

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recommendations! Published in 2020 at "Oral and Maxillofacial Surgery"

DOI: 10.1007/s10006-020-00879-y

Abstract: Aim The aim of the current study is to correlate the presence of tooth agenesis with other dental anomalies in 7- to 15-year-old patients. Materials and methods After evaluating 4000 panoramic radiographs of young subjects,… read more here.

Keywords: agenesis; agenesis dental; tooth agenesis; dental anomalies ... See more keywords
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The Incidence of Agenesis of Palmaris Longus Muscle Among Multiracial Medical Students of University Malaya, Malaysia

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recommendations! Published in 2019 at "Indian Journal of Surgery"

DOI: 10.1007/s12262-019-02026-8

Abstract: Palmaris longus (PL) is the most superficial flexor muscle of the wrist. Agenesis of this muscle does not result in disability but its presence plays a significant role in reconstructive plastic surgery as a donor… read more here.

Keywords: agenesis; incidence; malaysia; muscle ... See more keywords
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Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families

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recommendations! Published in 2020 at "Journal of Nephrology"

DOI: 10.1007/s40620-020-00795-0

Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are… read more here.

Keywords: agenesis; novel loss; renal agenesis; loss function ... See more keywords
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Patterns of non-syndromic permanent tooth agenesis in a large orthodontic population.

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recommendations! Published in 2017 at "Archives of oral biology"

DOI: 10.1016/j.archoralbio.2017.02.020

Abstract: OBJECTIVE The aim of this study is to explore patterns of non-syndromic permanent tooth agenesis in a large orthodontic patient group. DESIGN A record review was performed in various orthodontic clinics to identify white patients… read more here.

Keywords: agenesis; tooth agenesis; permanent tooth; syndromic permanent ... See more keywords
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Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

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recommendations! Published in 2018 at "Archives of oral biology"

DOI: 10.1016/j.archoralbio.2018.04.011

Abstract: OBJECTIVE The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by… read more here.

Keywords: agenesis; exome sequencing; family; canine agenesis ... See more keywords
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Thyroid isthmus agenesis and its clinical significance in a large-scale multidetector CT-based study.

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recommendations! Published in 2020 at "Clinical imaging"

DOI: 10.1016/j.clinimag.2020.04.038

Abstract: OBJECTIVE The purpose of this study was to estimate the incidence and clinical significance of thyroid isthmus agenesis based on multi-detector CT imaging in a large-scale study. METHODS Data from 1601 patients who underwent neck… read more here.

Keywords: agenesis; study; thyroid isthmus; isthmus agenesis ... See more keywords
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Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

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recommendations! Published in 2018 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2018.10.018

Abstract: Heterozygous gain of function mutations in the ZIC1 gene have been described with syndromic craniosynostosis, variable cerebral or cerebellar abnormalities and mild to moderate developmental delay. Deletion of chromosome 3q25.1 including both adjacent ZIC1 and… read more here.

Keywords: agenesis; mutated zinc; zinc finger; malformation ... See more keywords
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Symmetry of dental agenesis in Down Syndrome children

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recommendations! Published in 2019 at "Journal of Dental Sciences"

DOI: 10.1016/j.jds.2018.04.003

Abstract: Background/purpose Down syndrome (DS) may affect the mouth, influencing its function, feeding and hence overall health status. We aim at investigating the frequency and type of dental agenesis in a school-age DS sample, evaluating gender,… read more here.

Keywords: agenesis; syndrome children; agenesis syndrome; symmetry dental ... See more keywords
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Preventing the O in OHVIRA (Obstructed Hemivagina Ipsilateral Renal Agenesis): Early Diagnosis and Management of Asymptomatic Herlyn-Werner-Wunderlich Syndrome.

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recommendations! Published in 2019 at "Journal of pediatric surgery"

DOI: 10.1016/j.jpedsurg.2019.06.006

Abstract: INTRODUCTION Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare variant of Mullerian ductal anomaly associated with ipsilateral renal agenesis. Most patients are diagnosed after menarche with complications of uterovaginal obstruction, genitourinary infection and pelvic adhesions. Patients often… read more here.

Keywords: agenesis; renal agenesis; early diagnosis; management ... See more keywords