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Cl. Moraine

Observed names: C MORAINE, C Moraine, C. Moraine
OpenAlex ID: A5014052781
Monosomy 6q: report on four new cases
1992 · C. Valtat, D. Galliano, et al. · Clinical Genetics · 50
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.
1998 · P Billuart, T Bienvenu, et al. · PubMed · 40
Prenatal diagnosis of trisomy 8 mosaicism in cvs after abnormal ultrasound findings at 12 weeks
1995 · A. Guichet, S. Briault, et al. · Prenatal Diagnosis · 17
[Agenesis of the corpus callosum. Neuropathologic study and physiopathologic hypotheses].
1998 · A Gelot, F Lewin, et al. · PubMed · 12
[The r(14) syndrome. 3 new observations].
1984 · S Gilgenkrantz, A Morali, et al. · PubMed · 11
Severe X-linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8
2004 · GS Salomons, Rosenberg Eh, et al. · European Journal of Human Genetics · 10
Structural rearrangements of chromosome 13 as additional abnormalities in Burkitt lymphoma and type 3 acute lymphoblastic leukemia
1992 · C. Barin, C. Valtat, et al. · Cancer Genetics and Cytogenetics · 10
Trisomy X: ACLF (Association des Cytogénéticiens de Langue Française) retrospective study.
1996 · A Guichet, S Briault, et al. · PubMed · 8
151 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation
2003 · J FORISSIER, C BOUCHIER, et al. · European Journal of Heart Failure Supplements · 7
[Lethal syndromes with thin bones].
1988 · P Maroteaux, L Cohen-Solal, et al. · PubMed · 7
[Familial blepharophimosis and female sterility: pleiotropism or linked genes?].
1976 · C Moraine, C Titeca, et al. · PubMed · 7
X-linked mental retardation: Linkage results in five unrelated families
1994 · C Moraine, Benoît Dessay, et al. · The American Journal of Human Genetics · 5
High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation
1998 · A. Guichet, S. Briault, et al. · Prenatal Diagnosis · 4
High resolution chromosome analysis andin situ hybridization on amniotic fluid for diagnosis of a cryptic translocation
1998 · A. Guichet, S. Briault, et al. · Prenatal Diagnosis · 3
Duplication of the MECP2 region is a frequent cause of severe mental retardation and neurological symptoms in males
2006 · Hilde Van Esch, Marijke Bauters, et al. · Genetic counseling · 1
Evaluation of an X-linked mental retardation resequencing array
2007 · LR Jensen, W Chen, et al. · Medizinische Genetik
Transcriptional effects of mutations in the XLMR gene JARID1C
2007 · LR Jensen, Bettina Lipkowitz, et al. · European Journal of Human Genetics
Development and validation of the "chromosome X exon-specific array" that enables identification of copy number changes in genes of the X chromosome
2007 · Philippos C. Patsalis, Ludmila Kousoulidou, et al. · Chromosome Research
Complex genomic architecture at xq28 results in duplication of mecp2 commonly found in a specific subset of MR patients
2007 · Marijke Bauters, Hilde Van Esch, et al. · Cellular Oncology
A recurrent deletion of ZNF630 and SSX6 in Xp11.23: a risk factor for mental retardation?
2007 · D Lugtenberg, L Zangrande-Vieira, et al.
Development and validation of the “chromosome X exon-specific array” that enables identification of copy number changes in genes of the X chromosome
2007 · L. K. Kousoulidou, Stavros Bashiardes, et al. · European Journal of Human Genetics
Development and validation of the “chromosome X exon-specific array” and screening of 20 XLMR families: a targeted approach to identify genes associated with XLMR
2007 · Ludmila Kousoulidou, Stavros Bashiardes, et al.
An X-linked mental retardation resequencing array
2006 · Lars Riff Jensen, W Chen, et al. · Medizinische Genetik
Disruption of ARHGEF9 is associated with cognitive deficits: identification oa a new candidate for x-linked mental retardation
2006 · Kalscheuer, C Mentzel, et al. · Medizinische Genetik
Duplications of the MECP2 gene are commonly found in a specific subset of patients with syndromal MR; towards a detailed genotype-phenotype correlation
2006 · Hilde Van Esch, Marijke Bauters, et al.
Works count: 52
Citation count: 192
H-index: 8
I10-index: 7
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