Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Valérie Raclin"'
Autor:
Arnold Munnich, Jean-Paul Bonnefont, Smail Hadj-Rabia, Hayley Woffendin, Anne-Gaelle Grebille, Julie Steffann, Valérie Raclin, Yves Dumez, Sue Kenwrick, Alexandra Benachi, A. Smahi
Publikováno v:
Prenatal Diagnosis. 24:384-388
Objectives Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large-scale deletion encompassing exons 4 to 10 of the NEMO gene. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef367d97bebfbc38c36a006c0043c03
https://doi.org/10.1002/pd.889
https://doi.org/10.1002/pd.889
Autor:
Valérie Raclin, J. P. Aubry, Michel Vekemans, Laurence Faivre, Arnold Munnich, Jelena Martinovic, Nicole Morichon-Delvallez, M. P. Pinson, Yves Dumez, Patrick Edery, Géraldine Viot
Publikováno v:
Prenatal Diagnosis. 19:49-53
The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and Ebstei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49ba6498a0a87b8518fe803cfb029069
https://doi.org/10.1002/(sici)1097-0223(199901)19:1<49::aid-pd450>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199901)19:1<49::aid-pd450>3.0.co
Autor:
Valérie Raclin, Philippe Joly, Philippe Lacan, Caroline Garcia, Alain Francina, Patricia Aguilar-Martinez, Serge Pissard
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 415
Background Deletions represent about 5% of the mutations in the β-globin gene cluster. We report here the screening for such deletions in the two French urban areas of Paris and Lyon between 2003 and 2010. Methods Semi-quantitative PCR methods were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e7e84d3fe46ba4d821123b8014c4da
https://pubmed.ncbi.nlm.nih.gov/22981786
https://pubmed.ncbi.nlm.nih.gov/22981786
Autor:
Valérie Raclin, Pierre Rustin, Alexandra Benacki, Arnold Munnich, Béatrice Parfait, Paule Bénit, Smail Hadj-Rabia, Isabelle Valnot, Nadine Gigarel, Jean-Paul Bonnefont, Yves Dumez, Agnès Rötig, Jürgen-Christoph von Kleist-Retzow, Jeanne Amiel
Publikováno v:
Prenatal Diagnosis. 21:602-604
Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe50f64fcc3c4541ee0479a57480539d
https://doi.org/10.1002/pd.126
https://doi.org/10.1002/pd.126
Autor:
Josseline Kaplan, N Philip, M L Chauvet, Sonia Abdelhak, Philippe Burlet, R Spiegel, Yves Dumez, Judith Melki, Valérie Raclin, S Gilgenkrantz
Publikováno v:
Journal of Medical Genetics. 29:171-174
Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47594df45e74f8bc90ff76ca528db1b6
https://doi.org/10.1136/jmg.29.3.171
https://doi.org/10.1136/jmg.29.3.171
Autor:
Arnold Munnich, Jeanne Amiel, Josué Feingold, Hélène Hoffman-Radvanyi, Jean-Marie Jouannic, Marc Dommergues, Nicole Morichon, Jean-Paul Bonnefont, Valérie Raclin
Editor—Myotonic dystrophy (DM) is a common autosomal dominant disorder characterised by myotonia, muscle weakness, ECG abnormalities, cataracts, hypogonadism, and frontal balding in the typical adult form (MIM 160900). The genetic defect consists o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8c802af6c70e408dfee94f24a62c4b
https://europepmc.org/articles/PMC1734793/
https://europepmc.org/articles/PMC1734793/
Autor:
Stanislas Lyonnet, Christine Francannet, Gaëlle Bougeard, Thierry Frebourg, Arnold Munnich, Jeanne Amiel, Valérie Raclin
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩
European Journal of Human Genetics, Nature Publishing Group, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩
International audience; TP63 gene mutations have recently been shown to be disease causing in EEC and SHFM. Two other overlapping syndromes with ectrodactyly as a major feature, have been mapped to chromosome 3q27 close by the TP63 locus, namely the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7394a34207e8eba342925d72c6282167
https://hal.archives-ouvertes.fr/hal-03106954
https://hal.archives-ouvertes.fr/hal-03106954
Autor:
Michel Vekemans, Laurent Mandelbrot, Nicole Morichon-Delvallez, Arnold Munnich, Françoise Narcy, Patrick Edery, Marie-Cécile Aubry, Laurence Faivre, Géraldine Viot, S. Loison, Valérie Raclin
Publikováno v:
Prenatal diagnosis. 18(10)
The prenatal diagnosis of an 8p23.1 deletion is reported. The diagnosis was ascertained at 22 weeks of gestation because of the discovery of a diaphragmatic hernia at ultrasound. Following cytogenetic studies and counselling, the pregnancy was termin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301f7d48b2af494296c53097c0ba5cc4
https://pubmed.ncbi.nlm.nih.gov/9826897
https://pubmed.ncbi.nlm.nih.gov/9826897
Autor:
Philippe Burlet, Judith Melki, Louis Viollet, Valérie Raclin, P. Landrieu, Alain Verloes, Arnold Munnich, Jeanne Amiel, Suzie Lefebvre, Olivier Clermont, Lydie Burglen
Publikováno v:
Scopus-Elsevier
The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were fou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd0666ac56bedd455d57f04ab9755f31
https://europepmc.org/articles/PMC507534/
https://europepmc.org/articles/PMC507534/