Results 71 to 80 of about 36,492 (239)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Low CCL2 and CXCL8 Production and High Prevalence of Allergies in Children with Microcephaly Due to Congenital Zika Syndrome

Viruses, 2023
Congenital Zika Syndrome (CZS) is associated with an increased risk of microcephaly in affected children. This study investigated the peripheral dysregulation of immune mediators in children with microcephaly due to CZS.
Wallace Pitanga Bezerra, Amanda Costa Ayres Salmeron, Anna Cláudia Calvielli Castelo Branco, Ingryd Camara Morais, Valéria Soraya de Farias Sales, Paula Renata Lima Machado, Janeusa Trindade Souto, Josélio Maria Galvão de Araújo, Paulo Marcos da Matta Guedes, Maria Notomi Sato, Manuela Sales Lima Nascimento   +10 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Epidemiological profile of 39 cases of microcephaly caused by congenital infections diagnosed in the state of Rio Grande do Sul between 2015-2017

Clinical and Biomedical Research, 2019
Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn (NB), which may be visible even ...
Luciana Friedrich, Silvani Herber, Anna Pires Terra, André Anjos da Silva, Maria Teresa Viera Sanseverino, Lucas Rosa Fraga, Fernanda Sales Luiz Vianna, Ida Vanessa Doederlein Schwartz, Lavínia Schuler-Faccini   +8 more
doaj  

Neurological, Radiological, Visual, and Auditory Findings in Children with Intrauterine Exposure to the Zika Virus

Viruses
This study aims to describe neurological, visual, and auditory findings in children whose mothers had confirmed Zika virus (ZIKV) infection during pregnancy, with most of these children not presenting congenital microcephaly; Methods: an observational ...
Marlos Melo Martins, Andréa Bittencourt Guastavino, Maria Clara de Magalhães-Barbosa, Maria Helena de Magalhães-Barbosa, Cristiane Fregonesi Dutra Garcia, Bárbara Karine Gonet Amaral, Annamaria Ciminelli Barbosa, Halina Cidrini Ferreira, Jaqueline Rodrigues Robaina, Mariana Barros Genuino de Oliveira, Fernanda Freire Tovar-Moll, Roberto de Andrade Medronho, Antonio José Ledo Alves da Cunha, Joffre Amim, Arnaldo Prata-Barbosa   +14 more
doaj   +1 more source

Microcephaly, an etiopathogenic vision

Pediatrics and Neonatology, 2021
Microcephaly is defined by an occipital-frontal head circumference (OFD) 2 standard deviations (SD) smaller than the average expected for age, gender and population. Its incidence has been reported between 1.3 and 150 cases per 100,000 births. Currently,
Luis Eduardo Becerra-Solano, Leovigildo Mateos-Sánchez, Eunice López-Muñoz   +2 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study [PDF]

, 2016
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects.
Alaee, E., Bazrafshan, B., Hosseininejad, S.-M.   +2 more
core   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation [PDF]

, 2011
Background To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families.
Manèl Chograni, Myriam Chaabouni, Faouzi Mâazoul, Hedi Bouzid, Abdelhafid Kraiem, Habiba B Bouhamed Chaabouni   +5 more
core   +1 more source