Results 191 to 200 of about 290,347 (229)

Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development. [PDF]

JIMD Rep
Bobić M, Sedmak G, Bokulić E, Medenica T, Žigman T, Vinković BM, Antolović V, Kešin N, Lehman I, Škaričić A, Novoselec M, Mateševac J, Kalamar MK, Frković SH, Barić I, Ramadža DP.   +15 more
europepmc   +1 more source

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Dominantly inherited syndrome of microcephaly and congenital lymphedema

Clinical Genetics, 1985
A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.
Alexander K C Leung, A K Leung
exaly   +3 more sources

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   +2 more
exaly   +3 more sources

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
openaire   +2 more sources

Urological profile of children with microcephaly and congenital zika syndrome

Journal of Pediatric Urology, 2021
An outbreak of Zika virus disease, a self-limiting arbovirus infection involving skin rash and fever, occurred in Brazil in 2015 and was followed by an increase in newborns with microcephaly and brain malformations. Although two recent studies reported neurogenic bladder in children with microcephaly and congenital Zika syndrome (CZS), urologic ...
Ubirajara Barroso
exaly   +3 more sources

Congenital microcephaly: A diagnostic challenge during Zika epidemics

Travel Medicine and Infectious Disease, 2018
The multiple, wide and diverse etiologies of congenital microcephaly are complex and multifactorial. Recent advances in genetic testing have improved understanding of novel genetic causes of congenital microcephaly. The recent Zika virus (ZIKV) epidemic in Latin America has highlighted the need for a better understanding of the underlying pathological ...
Alvaro J Idrovo, Alfonso J. Rodríguez-Morales, Alberto Paniz-Mondolfi   +2 more
exaly   +3 more sources