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“CHARGE‐like presentation,craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A. 164:2557‐2566, 2014 下载免费PDF全文
Tara L. Wenger Margaret Harr Stefania Ricciardi Elizabeth Bhoj Avni Santani Margaret P. Adam Sarah S. Barnett Rebecca Ganetzky Donna M. McDonald‐McGinn Domenica Battaglia Stefania Bigoni Angelo Selicorni Giovanni Sorge Matteo Della Monica Francesca Mari Elena Andreucci Silvia Romano Guido Cocchi Salvatore Savasta Baris Malbora Giuseppe Marangi Livia Garavelli Marcella Zollino Elaine H. Zackai 《American journal of medical genetics. Part A》2015,167(7):1682-1683
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New recessive truncating mutation in LTBP3 in a family with oligodontia,short stature,and mitral valve prolapse 下载免费PDF全文
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The Basement Membrane and the Sex Establishment in the Juvenile Hermaphroditism During Gonadal Differentiation of the Gymnocorymbus ternetzi (Teleostei: Characiformes: Characidae) 下载免费PDF全文
Talita Sarah Mazzoni Harry J. Grier Irani Quagio‐Grassiotto 《Anatomical record (Hoboken, N.J. : 2007)》2015,298(12):1984-2010
Although there are several studies on morphogenesis in Teleostei, until now there is no research describing the role of the basement membrane in the establishment of the germinal epithelium during gonadal differentiation in Characiformes. In attempt to study these events that result in the formation of ovarian and testicular structures, gonads of Gymnocorymbus ternetzi were prepared for light microscopy. During gonadal development in G. ternetzi, all individuals first developed ovarian tissue. The undifferentiated gonad was formed by somatic cells (SC) and primordial germ cells (PGCs). After successive mitosis, the PGCs became oogonia, which entered into meiosis originating oocytes. An interstitial tissue developed. In half of the individuals, presumptive female, prefollicle cells synthesized a basement membrane around oocyte forming a follicle. Along the ventral region of the ovary, the tissue invaginated to form the ovigerous lamellae, bordered by the germinal epithelium. Stroma developed and the follicle complexes were formed. The gonadal aromatase was detected in interstitial cells in the early steps of the gonadal differentiation in both sexes. In another half of the individuals, presumptive male, there was no synthesis of basement membrane. The interstitium was invaded by numerous granulocytes. Pre‐Leydig cells proliferated. Apoptotic oocytes were observed and afterward degenerated. Spermatogonia appeared near the degenerating oocytes and associated to SCs, forming testicular tubules. Germinal epithelium developed and the basement membrane was synthesized. Concomitantly, there was decrease of the gonadal aromatase and increase in the 3β‐HSD enzyme expression. Thus, the testis was organized on an ovary previously developed, constituting an indirect gonochoristic differentiation. Anat Rec, 298:1984–2010, 2015. © 2015 Wiley Periodicals, Inc. 相似文献
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