Author

Marie‐Christine de Blois

Observed names: M C De Blois, M C de Blois, M De Blois, M. C. de Blois, M.C. de Blois, MC De Blois, MC de Blois, Marie-Christine de Blois, Marie-christine De Blois, Marie‐Christine De Blois, de Blois, Marie-Christine, deBlois, Marie-Christine

Observed institutions: Hôpital Necker-Enfants Malades, Johns Hopkins University, Max Planck Society, Inserm, Centre Hospitalier Universitaire de Lille, Institut Necker Enfants Malades, Sorbonne Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Saint-Antoine, Institut des Maladies Génétiques Imagine, Université Paris Descartes

OpenAlex ID: A5110087869

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

2001 · Hélène De Leersnyder, Marie-Christine de Blois, et al. · The Journal of Pediatrics · 199

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

2006 · Capucine Delnatte, Damien Sanlaville, et al. · The American Journal of Human Genetics · 149

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Functional disomy of the Xq28 chromosome region

2005 · Damien Sanlaville, Marguerite Prieur, et al. · European Journal of Human Genetics · 135

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

2002 · Laurence Faivre, Philippe Gosset, et al. · European Journal of Human Genetics · 119

β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

2001 · Hélène De Leersnyder, Marie-Christine de Blois, et al. · Journal of Medical Genetics · 115

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Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

2002 · L Faivre, V Cormier-Daire, et al. · Journal of Medical Genetics · 114

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Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

2008 · Anne Philippe, Nathalie Boddaert, et al. · PEDIATRICS · 111

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

2010 · C Bonnet, J Andrieux, et al. · Journal of Medical Genetics · 104

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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

2001 · Laurence Colleaux, Marlène Rio, et al. · European Journal of Human Genetics · 95

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

1994 · Pangalos, Constantinos, Avramopoulos, Dimitros, et al. · PubMed Central · 83

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

2014 · Mathilde Nizon, Joris Andrieux, et al. · American Journal of Medical Genetics Part A · 67

PMX2B, a new candidate gene for Hirschsprung's disease

2003 · HK Benailly, JM Lapierre, et al. · Clinical Genetics · 60

DNA polymorphism analysis in families with recurrence of free trisomy 21

1992 · Pangalos, Constantinos G, Talbot Jr., Conover C, et al. · PubMed · 59

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

2007 · V Malan, MC De Blois, et al. · Clinical Genetics · 44

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

2012 · M Rio, G Royer, et al. · Clinical Genetics · 35

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

2015 · Laïla El Khattabi, Sylvie Jaillard, et al. · American Journal of Medical Genetics Part A · 32

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Ebstein anomaly associated with rearrangements of chromosomal region 11q

1998 · Pascale de Lonlay-Debeney, Marie-Christine de Blois, et al. · American Journal of Medical Genetics · 32

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

2005 · Damien Sanlaville, David Genevieve, et al. · European Journal of Human Genetics · 31

[Metabolism of monocarbons and trisomy 21: sensitivity to methotrexate].

1986 · J Lejeune, M O Rethoré, et al. · PubMed · 27

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

2005 · M. Chaabouni, M. Le Merrer, et al. · European Journal of Medical Genetics · 26

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

2013 · M. Essaoui, M. Nizon, et al. · European Journal of Medical Genetics · 18

[Amino acids and trisomy 21].

1992 · J Lejeune, M O Rethoré, et al. · PubMed · 18

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

2014 · Matthieu Egloff, Ferechte Encha-Razavi, et al. · Cytogenetic and Genome Research · 12

Werner mesomelic dysplasia with Hirschsprung disease

2003 · Alice Goldenberg, Mathieu Milh, et al. · American Journal of Medical Genetics Part A · 12

[Trial of folic acid treatment in fragile X syndrome].

1984 · J Lejeune, M O Rethoré, et al. · PubMed · 8

Works count: 45

Citation count: 1,759

H-index: 20

I10-index: 24