Results 61 to 70 of about 49,640 (282)
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 +11 more
wiley +1 more source
Abnormal skull findings in neural tube defects [PDF]
, 2009 The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical
Cacciatore , Alessandro +9 more
core
Research progress of the causal link between Zika virus and microcephaly
Global Health Journal, 2018 Zika virus (ZIKV) was an emergent flavivirus transmitted by Aedes genus mosquitoes and made an explosive outbreak in Latin America in 2015. A few months later, an obvious increase in the number of microcephaly neonates has been observed, which might be ...
Min Yan, Rongsheng Luan
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2023 Microcephaly is characterized as a small head circumference, and is often accompanied by developmental disorders. Several candidate risk genes for this disease have been described, and mutations in non-coding regions are occasionally found in patients ...
Mayuri Tokunaga, Takuya Imamura
doaj +1 more source
, 2018 BACKGROUND Microcephaly is a congenital anomaly of the central nervous system. It is a condition in which an infant’s head is significantly smaller than the heads of other children of the same age and sex.
Chantal Nelson
core +1 more source
Congenital Genetic Microcephaly: Clinical Diagnostic Approach
, 2020 Microcephaly is an important neurological sign defined by a cranial circumference < 2 standard deviations or < 3 standard deviations in the severe form compared with age- and gender-matched children.
Falsaperla, Raffaele +4 more
core +1 more source
Cryptorchidism in Children with Zika-Related Microcephaly. [PDF]
, 2020 The genitourinary tract was recently identified as a potential site of complications related to the congenital Zika syndrome (CZS). We provide the first report of a series of cryptorchidism cases in 3-year-old children with Zika-related microcephaly who ...
Ximenes, Ricardo A. A. +17 more
core +1 more source
CRANIECTOMY IN MICROCEPHALY [PDF]
The Journal of Nervous and Mental Disease, 1892 n ...
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Medicina, 2019 Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. It is an important neurological sign and predictor of future disability. One of its diagnostic difficulties lies in the ranks of the head circumference reference against which we measure each child.
Robin D. Clark, Cynthia J. Curry
+5 more sources