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- Publications
- Influence
Stalled developmental programs at the root of pediatric brain tumors
- Selin Jessa, A. Blanchet-Cohen, +37 authors Claudia L. Kleinman
- Biology, Medicine
- Nature Genetics
- 18 October 2019
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
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death
- Alexandre Vasiljevic, B. Poreau, R. Bouvier, A. Lachaux, P. Ray
- Medicine
- The Lancet
- 23 May 2015
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 early… Expand
Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability
- Pauline Le Tanno, B. Poreau, +5 authors C. Coutton
- Biology, Medicine
- American journal of medical genetics. Part A
- 1 June 2014
We report on a young child with intellectual disability and unilateral coronal craniosynostosis leading to craniofacial malformations. Standard karyotype showed an apparently balanced translocation… Expand
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 scientific… Expand
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 a… Expand
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 progressive… Expand
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 aim… Expand
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 scientific… Expand
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.
- B. Poreau, S. Lin, +9 authors C. Coutton
- Biology, Medicine
- European journal of medical genetics
- 1 October 2015
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 in… Expand