O uso da hibridação in situ com fluorescência no diagnóstico de mosaicismo oculto: a propósito de três casos de anomalias de cromossomos sexuais [PDF]
, 2012 FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old
Andrade, Juliana Gabriel Ribeiro +7 more
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Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Definitions, 2020 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents.
semanticscholar +1 more source
Receptores acoplados à proteína G: implicações para a fisiologia e doenças endócrinas [PDF]
, 2001 The majority of polypeptide hormones and even extracellular calcium signal their target cells through G protein-coupled receptors (GPCRs). Recently, many mutations have been both identified and associated with several endocrine disorders, such as ...
Hauache, Omar M.
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Uso da fish em mucosa oral para investigação de mosaicismo com linhagem 45,x: estudo com homens saudáveis e pacientes com distúrbios da diferenciação do sexo [PDF]
, 2015 FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOObjective: To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients ...
Andrade J.G.R. de +5 more
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Maternal-fetal complications in patients suffering from Turner syndrome: A report of two cases with oocyte donation [PDF]
, 2020 El Síndrome de Turner (ST) es la patología más frecuente que compromete los cromosomas sexuales, es causada por la ausencia completa o parcial del cromosoma X.
Avila, Luz Mabel +8 more
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Estudio molecular de alteraciones del eje Hipotálamo-hipófiso-gonadal en pacientes con diferencias/desórdenes de la diferenciación sexual [PDF]
, 2022 Fil: Touzon, María Sol. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Buenos Aires, ArgentinaEl desarrollo sexual es un proceso secuencial complejo y estrictamente\ncontrolado: primero ocurre la determinación sexual, que es el evento ...
Touzon, María Sol
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Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis
Reproductive Biology and Endocrinology46,XX complete gonadal dysgenesis (46,XX-CGD) is a rare disorder of sexual development (DSD) characterized by primary amenorrhea and a lack of spontaneous pubertal development in individuals with a 46,XX karyotype despite the presence of female internal ...
Leilei Ding +4 more
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Bases biológicas de la intersexualidad y transexualidad [PDF]
, 2016 El sexo constituye una de las variables epidemiológicas más importantes, de hecho el NIH (National Institutes of Health) en 2014 incluyó en sus nuevas políticas la necesidad de una representación igualitaria de sexos en estudios preclínicos (1).
Miguélez González, María
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Endocrinology, Diabetes & Metabolism Case Reports, 2019 Summary Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus.
Yotsapon Thewjitcharoen +4 more
semanticscholar +1 more source
Assistenza infermieristica pre e post operatoria nei Disordini dello Sviluppo Sessuale (DSD) [PDF]
, 2012 Si stima che l'incidenza di anomalie dei genitali si verificano in 1 in 4.500 nati vivi, sul totale di 6,6 ogni 1000 nati vivi (tutte le anomalie cromosomiche), eppure resta ambito degi specialisti, non si diffonde capillarmente come meriterebbe, pochi ...
DANTES MINARCHI, ELIO
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