Results 1 to 10 of about 11,144,186 (305)
Genetic Analysis of a Family with Mohr-Tranebjaerg Syndrome
罕见病研究, 2023 Objective Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms.
GAO Ruzhen +5 more
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Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis
Bratislava Medical Journal, 2015 Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female ...
I, Borgulova +8 more
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International Journal of Neonatal ScreeningThe goal of newborn screening (NBS) has remained the same despite its significant expansion from its inception as a public health initiative. This goal is to identify infants that are at risk for a set list of conditions and to implement a care plan to ...
Macie Hricovec +4 more
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FOXP3+ Treg cells and its gender bias in autoimmune diseases
Frontiers in Immunology, 2015 CD4+CD25+ Regulatory T (Treg) cells play a pivotal role in the maintenance of immune homeostasis, where the X-linked master transcription factor Forkhead box P3 (FOXP3) determines Treg cell development and function.
Jia eNie +6 more
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Long-read technologies identify a hidden inverted duplication in a family with choroideremia
HGG Advances, 2021 Summary: The lack of molecular diagnoses in rare genetic diseases can be explained by limitations of current standard genomic technologies. Upcoming long-read techniques have complementary strengths to overcome these limitations, with a particular ...
Zeinab Fadaie +15 more
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Caso para diagnóstico Case for diagnosis
Anais Brasileiros de Dermatologia, 2009 Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com
Carine Veloso de Carvalho +4 more
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Advances of gene therapy for primary immunodeficiencies [version 1; referees: 2 approved]
F1000Research, 2016 In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic ...
Fabio Candotti
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Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Biomolecules, 2023 Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley +3 more
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X-linked lymphoproliferative disease type 1: a clinical and genetic update
Frontiers in ImmunologyX-linked lymphoproliferative disease (XLP), also known as Duncan’s disease, is a primary immunodeficiency disorder linked to the X chromosome. In 1998, SH2D1A, which encodes the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), was identified as the first pathogenic gene associated with XLP. To date, more than 100 mutation sites
Jiaxun Li +7 more
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Blaschko's lines, a pattern expressed in some dermatological illnesses
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018 With the current advances of genetics several skin conditions with a lineal disposition due to cutaneous mosaicisms have been able to be diagnosed. Although there are five different patterns, Blaschko's lines are the most frequent ones.
Yordania Velázquez-Ávila +2 more
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