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Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort. [PDF]

Hum Genomics
Fu F, Wei X, Chen C, Huang R, Tan X, Zhou H, Li R, Yu Q, Li F, Zhang Y, Li L, Jing X, Li D, Sun L, Liao C.   +14 more
europepmc   +1 more source

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center. [PDF]

Front Immunol
Kose H, Akalin A.
europepmc   +1 more source

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Molecular Genetic Analysis of Newborns with Congenital Microcephaly

Neonatology, 2022
<b><i>Introduction:</i></b> Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene <i>ASPM</i> in China remains unknown. <b><i>Methods:</i></b> Sixty-one neonates with CM who were hospitalized in the ...
Chang Ye, Hongfang Mei, Huiyao Chen, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, Liyuan Hu, Guoqiang Cheng, Wenhao Zhou, Lin Yang   +10 more
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Severe Microcephaly Associated with Congenital Varicella Infection

Developmental Medicine & Child Neurology, 1991
SUMMARYA case of second‐trimester congenital varicella infection, in association with isolated microcephaly and severe brain damage, is reported, and cases of classical congenital varicella syndrome are compared on a clinical and immunological basis. This case, together with others cited in the literature, suggests that congenital varicella infection ...
I E, Scheffer, M, Baraitser, E M, Brett
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Congenital microcephaly hospitalizations in California infants: 1999–2013

Birth Defects Research, 2019
AbstractIntroductionPopulation‐level changes in microcephaly incidence risk (IR) could signal circulation of neurotropic pathogens or potential emerging teratogen exposure.MethodsIn this retrospective population cohort study, we estimated the IR of hospitalizations with a microcephaly ICD‐9‐CM discharge diagnosis code among infants ≤1 year over a 15 ...
Maya R. Krasnow, Yvonne A. Maldonado, Despina G. Contopoulos‐Ioannidis   +2 more
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Mutant deoxynucleotide carrier is associated with congenital microcephaly

Nature Genetics, 2002
The disorder Amish microcephaly (MCPHA) is characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine and premature death. The disorder is inherited in an autosomal recessive pattern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County, Pennsylvania.
ROSENBERG M. J., AGARWALA R., BOUFFARD G., DAVIS J., HILLIARD M. S., KOCH T., KALIKIN L. M., MAKALOWSKA I., MORTON D. H., PETTY E. M., WEBER J. L., PALMIERI F., KELLEY R. I., SCHAFFER A. A., BIESECKER L. G., FIERMONTE, Giuseppe   +15 more
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Methodologic issues in epidemiologic studies of congenital microcephaly

Early Human Development, 2002
In this methodological paper, we explore a number of issues that pose problems for those who seek the antecedents of congenital microcephaly. We pay particular attention to three concerns: Who is a case? How should cases be classified? To whom should cases be compared?
Alan, Leviton, Lewis B, Holmes, Elizabeth N, Allred, Juan, Vargas   +3 more
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Ocular findings of congenital Zika virus infection with microcephaly

International Ophthalmology, 2022
To describe ocular findings in infants with signs of congenital Zika virus syndrome (CZS) in Paraíba, Brazil, as well as to conduct a literature review and report correlations with published clinical cases.In the Paraíba sample, infants with microcephaly suggestive of CZS were classified as Z (confirmed), PZ (probable), or SZ (suspected) according to ...
Cristiane Bezerra da Cruz, Costa, Denise, Freitas   +1 more
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