Results 91 to 100 of about 9,016 (186)

Research progress in the role of DHX37 gene in disorders of sex development [PDF]

Disorders of sex development (DSD) are a group of conditions with strong clinical phenotype heterogeneity, and the incidence of DSD in the population is 1/5 000 to 1/4 500.
LIU Bei, HE Jing
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Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development (DSD) from a single tertiary centre

, 2015
Introdução: As doenças crônicas que envolvem tratamento clínico e cirúrgico podem comprometer a qualidade de vida. Poucos estudos analisam a qualidade de vida de pacientes com distúrbios do desenvolvimento sexual (DDS). O objetivo foi avaliar a qualidade
Amaral, Rita de Cássia do
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Whole sequencing analysis of a cohort of SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development

O desenvolvimento gonadal em mamíferos é um processo dinâmico e complexo, que requer a interação de múltiplos fatores em um meticuloso sistema de retrocontrole e autorregulação.
Ferrari, Maria Tereza Martins
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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [PDF]

, 2016
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development ...
Machado, AZ, Mendonca, BB, Gomes, NL, Montenegro, LR, Nishi, MY, Lin, L, da Silva, TE, Frade Costa, EM, Domenice, S, Achermann, JC, Correa, RV, Silva, RB, Ferreira, FM, Ferraz-de-Souza, B, Narciso, A, Lerario, AM   +15 more
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The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features

, 2015
Background: Ovotesticular disorders of sexual development (OT-DSD) represent a rare sex development disorder characterized by the presence of both ovarian and testicular tissues in the same or the contralateral gonad.
Pişkin, Mesut, Akyürek, Nesibe, Eklioğlu, Beray Selver, Yuca, Sevil Arı, Atabek, Mehmet Emre   +4 more
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46,XX testicular disorder of sex development [PDF]

, 2020
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Uniparental disomy in somatic mosaicism 45,X/46,XY/46,XX associated with ambiguous genitalia

, 2015
Disorders of sex development (DSD) affect the development of chromosomal, gonadal and/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming to correlate the genetic findings with the phenotype.
Serra, Alexandre, Hiort, Olaf, Wabitsch, Martin, Rettenberger, Günther, Henne-Bruns, Doris, Just, Walter, Leriche, Clothilde, Barbi, Gotthold, Denzer, Friederike, Barth, Thomas F. E.   +9 more
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46,XX ovotesticular disorder of sex development [PDF]

, 2020
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The crucial role of SRY gene in the determination of human genetic sex: 46,XX disorder of sex development.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie, 2020
Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to occur in 1∕2500 pregnancies. A group of DSDs are the 46,XX testicular DSD. Today, the incidence of 46,XX testicular DSD is estimated at 1∕20 000 newborn males. A majority of males with DSD have an unbalanced X;Y exchange involving the pseudoautosomal region, with ...
Cristina Crenguţa, Albu, Dinu Florin, Albu, Ana Roxana, Muşat, Ioana Georgeta, Stancu, Ştefan Dimitrie, Albu, Anca, Pătraşcu, Alexandru Marian, Gogănău   +6 more
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Functional analyses of new nucleotide variations in NR5A1 gene in patients 46,XY with disorders of sex development

, 2018
Orientadores: Maricilda Palandi de Mello, Olaf Hiort, Ralf WernerTese (doutorado) - Universidade Estadual de Campinas, Instituto de BiologiaResumo: Os Distúrbios da Diferenciação do Sexo (DDS) caracterizam-se pelos desenvolvimentos gonadal e/ou genital ...
Fabbri-Scallet, Helena, 1987-
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