Search Results - "Dória, Sofia"

X-chromosome inactivation: implications in human disease by Pereira, Guilherme, Dória, Sofia

“…X-chromosome inactivation (XCI) is a process involved in the pathogenesis of several diseases. In this mini review, we discuss the known mechanisms associated…”
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Impact of copy number variants in epilepsy plus neurodevelopment disorders by João, Sofia, Quental, Rita, Pinto, Joel, Almeida, Carolina, Santos, Helena, Dória, Sofia

“…•22 of 146 patients (15 %) with epilepsy showed relevant copy number variants (CNVs).•"Epilepsy and global developmental delay/intellectual disability " group…”
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Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage by David, Dezső, Fino, Joana, Oliveira, Renata, Dória, Sofia, Morton, Cynthia C.

“…•We present supporting evidence for the existence of loci at 5q23 and at the tip of chromosome 21 for oligoasthenozoospermia (YIPF5) and oligozoospermia…”
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Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restriction by Caniçais, Carla, Vasconcelos, Sara, Ramalho, Carla, Marques, C. Joana, Dória, Sofia

“…Purpose Intrauterine growth restriction (IUGR) is a fetal growth complication that can be caused by ineffective nutrient transfer from the mother to the fetus…”
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X-chromosome inactivation pattern and telomere length in recurrent pregnancy loss by Vaz, Diane, Vasconcelos, Sara, Caniçais, Carla, Costa, Beatriz, Ramalho, Carla, Marques, Joana, Dória, Sofia

“…Recurrent pregnancy loss is a reproductive disorder affecting about 1 to 5 % of pregnant women worldwide that requires our attention, especially considering…”
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Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease by Gonçalves, Pedro Lisboa, Diniz, Hugo, Tavares, Isabel, Dória, Sofia, Dong, Juan, Kyriss, McKenna, Fairbanks, Lynette, Oliveira, João Paulo

“…Hereditary xanthinuria (HXAN) is a rare metabolic disorder that results from mutations in either the xanthine dehydrogenase (XDH) or the molybdenum cofactor…”
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Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes by Cordeiro, Amilcar, Neto, Ana Paula, Carvalho, Filipa, Ramalho, Carla, Dória, Sofia

“…Purpose To study the relationship of imprinted gene expression ( CDKN1C , H19 , IGF2 , KCNQ1 and PHLDA2 ) with human fetal growth. Methods RNA was extracted…”
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Clinical outcomes of 77 TESE treatment cycles in non-mosaic Klinefelter syndrome patients by Barros, Pedro, Cunha, Mariana, Barros, Alberto, Sousa, Mário, Dória, Sofia

“…ObjectiveThe current study aimed to present the clinical outcomes of 76 azoospermic patients with non-mosaic Klinefelter syndrome (KS), treated with testicular…”
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The role of DNA hydroxymethylation and TET enzymes in placental development and pregnancy outcome by Vasconcelos, Sara, Caniçais, Carla, Chuva de Sousa Lopes, Susana M, Marques, C Joana, Dória, Sofia

“…The placenta is a temporary organ that is essential for supporting mammalian embryo and fetal development. Understanding the molecular mechanisms underlying…”
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Klinefelter syndrome: The characterization of the clinical and sociological features of 51 patients by Mendonça, Fernando, Souto, Selma, Dória, Sofia, Carvalho, Davide

“…Klinefelter syndrome is the most frequently found aneuploidy among male patients. Its clinical presentation is very heterogeneous, and thus poses a challenge…”
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Reproductive success of assisted reproductive technology in couples with chromosomal abnormalities by Jesus, Ana Rita, Silva-Soares, Sandra, Silva, Joaquina, Severo, Milton, Barros, Alberto, Dória, Sofia

“…Purpose Infertility is estimated to affect 15% of couples, having chromosome abnormalities an important role in its etiology. The main objective of this work…”
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Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses by Costa, Beatriz C., Grangeia, Ana, Galvão, Joana, Vaz, Diane, Melo, Mónica, Carraca, Teresa, Ramalho, Carla, Dória, Sofia

“…The aim was to evaluate the main indications for prenatal diagnosis, the prevalence of abnormal copy number variations (CNVs), correlate them with clinical…”
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12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome? by Dória, Sofia, Alves, Daniela, Pinho, Maria João, Pinto, Joel, Leão, Miguel

“…12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite…”
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Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature by Vasconcelos, Alice P., Nogueira, Ana, Matos, Pedro, Pinto, Joel, Pinho, Maria João, Fernandes, Susana, Dória, Sofia, Pinto Moura, Carla

“…Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the…”
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Neonatal dilated cardiomyopathy by Soares, Paulo, Rocha, Gustavo, Pissarra, Susana, Soares, Henrique, Flôr-de-Lima, Filipa, Costa, Sandra, Moura, Cláudia, Dória, Sofia, Guimarães, Hercília

“…Cardiomyopathies are rare diseases of the heart muscle, of multiple causes, that manifest with various structural and functional phenotypes but are invariably…”
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Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling by Barros, Francisco, Carvalho, Filipa, Barros, Alberto, Dória, Sofia

“…Premature ovarian insufficiency (POI) is a heterogeneous disorder diagnosed in women before 40 years old and describes a wide range of impaired ovarian…”
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Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities by Jorge, Rita, Silva, Carmen, Águeda, Sofia, Dória, Sofia, Leão, Miguel

“…19p13.13 microdeletion has been consistently associated with intellectual disability, overgrowth, and macrocephaly. We report a 19p13.13 microdeletion,…”
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Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths by Dória, Sofia, Sousa, Mário, Fernandes, Susana, Ramalho, Carla, Brandão, Otília, Matias, Alexandra, Barros, Alberto, Carvalho, Filipa

“…Genomic imprinting is defined as an epigenetic modification that leads to parent-of-origin specific monoallelic expression. Some current research on the fetal…”
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Prevalence of chromosomal abnormalities in spontaneous abortions or fetal deaths by Bastos, Raquel, Ramalho, Carla, Dória, Sofia

“…Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main…”
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Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results? by Carvalho, Berta, Dória, Sofia, Ramalho, Carla, Brandão, Otília, Sousa, Mário, Matias, Alexandra, Barros, Alberto, Carvalho, Filipa

“…Abstract Objective The aim of this prospective study was to apply the MLPA technique to products of miscarriages and fetal deaths in order to detect the more…”
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