A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate
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DOI: 10.1007/s00381-020-04639-x
Abstract: Congenital anophthalmia is rare and can occur due to various etiologies, including genetic defects, teratogenic exposures, and vascular disruptions. We report a rare case of right-sided congenital anophthalmia and hemicerebral dysgenesis in association with ipsilateral… read more here.
Keywords: congenital anophthalmia; hemicerebral dysgenesis; dysgenesis; rare association ... See more keywords
Mullerian dysgenesis: a critical review of the literature
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DOI: 10.1007/s00404-017-4372-2
Abstract: PurposeTo present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome.MethodsStudies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of… read more here.
Keywords: dysgenesis critical; mrkh syndrome; mullerian dysgenesis; review literature ... See more keywords
Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation
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DOI: 10.1080/13816810.2016.1217549
Abstract: Microphthalmia is a structural birth defect in which one or both eyes are abnormally small. Microphthalmia may be classified as simple in which the eye is anatomically normal except for the decreased axial length or… read more here.
Keywords: staphylomatous malformation; novel homozygous; exome sequencing; dysgenesis ... See more keywords
Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis
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DOI: 10.1089/thy.2021.0597
Abstract: Context: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold increase in relative risk among first-degree relatives (1 in 100 compared with… read more here.
Keywords: etiology; whole exome; dysgenesis; congenital hypothyroidism ... See more keywords
Clinical and Histological Features of Ovarian Hypoplasia/Dysgenesis in Alpacas
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DOI: 10.3389/fvets.2022.837684
Abstract: Alpacas have a high incidence of congenital reproductive tract abnormalities, including ovarian hypoplasia/dysgenesis. Diagnosis of this condition is often challenging. The present study describes the clinical, ultrasonographic, and histologic features of ovarian hypoplasia/dysgenesis syndrome in… read more here.
Keywords: features ovarian; dysgenesis; ovarian hypoplasia; alpacas ... See more keywords
Combined DiI and Antibody Labeling Reveals Complex Dysgenesis of Hippocampal Dendritic Spines in a Mouse Model of Fragile X Syndrome
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DOI: 10.3390/biomedicines10112692
Abstract: Structural, functional, and molecular alterations in excitatory spines are a common hallmark of many neurodevelopmental disorders including intellectual disability and autism. Here, we describe an optimized methodology, based on combined use of DiI and immunofluorescence,… read more here.
Keywords: model fragile; methodology; dysgenesis; mice ... See more keywords