Lidia Pezzani,Donatella Milani,Gianluca Tadini
Lidia Pezzani
The skin and the central and peripheral nervous system both derive from the ectoderm ridge. Therefore, several syndromes characterized by the presence of intellectual disability (ID) can be associated with specific congenital cutaneous mani...
Maurice A M van Steensel
Maurice A M van Steensel
Genetic mosaicism is defined as the presence of two or more genetically distinct cell populations in a single individual. Ever more disorders are found to be manifestations of mosaicism and together constitute a significant proportion of th...
Overgrowth Syndromes [0.03%]
过度生长综合征
Andrew C Edmondson,Jennifer M Kalish
Andrew C Edmondson
Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as ...
Gemma L Carvill,Heather C Mefford
Gemma L Carvill
Next-generation sequencing technologies have revolutionized gene discovery in patients with intellectual disability (ID) and led to an unprecedented expansion in the number of genes implicated in this disorder. We discuss the strategies tha...
Donatella Milani,Luisa Ronzoni,Susanna Esposito
Donatella Milani
Maternal Iron Status in Pregnancy and Long-Term Health Outcomes in the Offspring [0.03%]
孕期母体铁状态与后代长期健康结局的关系
Nisreen A Alwan,Hanan Hamamy
Nisreen A Alwan
Iron is an essential micronutrient and is important not only in carrying oxygen but also to the catalytic activity of a variety of enzymes. In the fetus, it is vital to the synthesis of hemoglobin and in brain development. Iron deficiency (...
An Update on Maternal Use of Antiepileptic Medications in Pregnancy and Neurodevelopment Outcomes [0.03%]
妊娠期间抗癫痫药物使用情况及神经发育结局的最新研究进展
Elizabeth E Gerard,Kimford J Meador
Elizabeth E Gerard
Antiepileptic drugs (AEDs) are prescribed commonly to women of childbearing age. In utero exposure to some AEDs can have significant cognitive and behavioral consequences for the unborn child. Recently, prospective studies of women taking A...
Selective Serotonin Reuptake Inhibitor Use during Pregnancy and the Risk of Autism Spectrum Disorders: A Review [0.03%]
孕期使用选择性5-羟色胺再摄取抑制剂与自闭症谱系障碍风险：综述
Takoua Boukhris,Anick Bérard
Takoua Boukhris
Antidepressants are widely used during pregnancy. Several studies have shown that the use of antidepressants during pregnancy is linked to adverse outcomes, including congenital malformations, prematurity, and low birth weight. However, the...
Update on Prepregnancy Maternal Obesity: Birth Defects and Childhood Outcomes [0.03%]
孕前肥胖对出生缺陷和儿童结局的影响
Noha Iessa,Anick Bérard
Noha Iessa
Obesity is a growing global health epidemic. It is estimated that more than 20% of pregnancies are complicated by obesity. Prepregnancy obesity has been associated with birth defects such as neural tube defects, macrosomia, fetal death, and...
Lisa A Coscia,Dawn P Armenti,Ryan W King et al.
Lisa A Coscia et al.
Mycophenolic acid (MPA) products, namely mycophenolate mofetil and mycophenolate sodium, are immunosuppressive medications used to prevent rejection in solid organ transplant recipients and to treat various autoimmune disorders. Mycophenola...