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Stalled developmental programs at the root of pediatric brain tumors
Childhood brain tumors have suspected prenatal origins. To identify vulnerable developmental states, we generated a single-cell transcriptome atlas of >65,000 cells from embryonal pons and forebrain,Expand
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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death
2120 www.thelancet.com Vol 385 May 23, 2015 A 41-year-old woman was referred to our institute in Lyon in April, 2010, in her seventh pregnancy. She had had two miscarriages and three earlyExpand
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Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability
We report on a young child with intellectual disability and unilateral coronal craniosynostosis leading to craniofacial malformations. Standard karyotype showed an apparently balanced translocationExpand
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Mapping South African public health research (1975 - 2014).
  • B. Poreau
  • Medicine
  • South African medical journal = Suid-Afrikaanse…
  • 12 December 2014
BACKGROUND Since 1994, South Africa (SA) has faced up to the challenge of building a strong economy, to which public health provides an important underpinning. Objectives. To map the scientificExpand
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Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction
We report findings from a male fetus of 26 weeks' gestational age with severe isolated intrauterine growth restriction (IUGR). Chromosomal microarray analysis (CMA) on amniotic fluid cells revealed aExpand
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Progressive and self-limiting neurodegenerative disorders in Africa: a new prominent field of research led by South Africa but without strong health policy
  • B. Poreau
  • Medicine
  • The Pan African medical journal
  • 22 April 2016
Introduction Neurodegenerative disorders are involved in mortality and morbidity of every country. A high prevalence is estimated in Africa. Neurodegenerative disorders are defined by a progressiveExpand
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Mapping Rwanda public health research (1975-2014).
  • B. Poreau
  • Medicine
  • African health sciences
  • 16 January 2015
BACKGROUND Since the genocide occurred in 1994, Rwanda has faced up to the challenge of rebuilding. Public health is a main field to understand this rebuilding. OBJECTIVES In this paper, the aimExpand
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Mapping South African public Health research
  • B. Poreau
  • Medicine
  • South African medical journal = Suid-Afrikaanse…
  • 2015
Background. Since 1994, South Africa (SA) has faced up to the challenge of building a strong economy, to which public health provides an important underpinning. Objectives. To map the scientificExpand
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13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.
We report on a female fetus with macrocephaly and macroglossia harbouring 13q31.1 microdeletion encompassing three genes: SPRY2, NDFIP2 and RBM26. NDFIP2 protein is involved in ubiquitination and inExpand
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