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Author/Creator Cormier-Daire, Valérie

1. A new lethal syndrome of exomphalos, short limbs, and macrogonadism. Issue 2 (1st February 1999)

Authors:
Faivre, Laurence; Delezoide, Anne-Lise; Narcy, Françoise; Razavi, Féréchté; Bouvier, Raymonde; Cormier-Daire, Valérie; Briard, Marie-Louise; Lyonnet, Stanislas; Vekemans, Michel; Munnich, Arnold; Le Merrer, Martine
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 2(1999)
Page Start:
131
Record Type:
Journal Article
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2. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. Issue 2 (20th January 2013)

Authors:
Baujat, Geneviève; Huber, Céline; El Hokayem, Joyce; Caumes, Roseline; Do Ngoc Thanh, Claire; David, Albert; Delezoide, Anne-Lise; Dieux-Coeslier, Anne; Estournet, Brigitte; Francannet, Christine; Kayirangwa, Honorine; Lacaille, Florence; Le Bourgeois, Muriel; Martinovic, Jelena; Salomon, Rémi; S...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 2(2013)
Page Start:
91
Record Type:
Journal Article
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3. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Issue 6 (4th March 2011)

Authors:
Arts, Heleen H; Bongers, Ernie M H F; Mans, Dorus A; van Beersum, Sylvia E C; Oud, Machteld M; Bolat, Emine; Spruijt, Liesbeth; Cornelissen, Elisabeth A M; Schuurs-Hoeijmakers, Janneke H M; de Leeuw, Nicole; Cormier-Daire, Valérie; Brunner, Han G; Knoers, Nine V A M; Roepman, Ronald
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 6(2011)
Page Start:
390
Record Type:
Journal Article
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4. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017)

Authors:
Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
843
Record Type:
Journal Article
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5. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020)

Authors:
Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 7(2020)
Page Start:
466
Record Type:
Journal Article
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6. Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. Issue 1 (1st January 2000)

Authors:
Faivre, Laurence; Le Merrer, Martine; Megarbane, André; Gilbert, Brigitte; Mortier, Geert; Cusin, Veronica; Munnich, Arnold; Maroteaux, Pierre; Cormier-Daire, Valérie
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 1(2000)
Page Start:
52
Record Type:
Journal Article
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7. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Issue 1 (December 2015)

Authors:
Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Fig...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 9:Issue 1(2014)
Page Start:
1
Record Type:
Journal Article
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8. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. (November 2018)

Authors:
Michot, Caroline; Goff, Carine; Blair, Edward; Blanchet, Patricia; Capri, Yline; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Henderson, Alex; Isidor, Bertrand; Kayserili, Hulya; Kinning, Esther; Merrer, Martine; Lyonnet, Stanislas; Odent, Sylvie; Simsek-Kiper, Pelin; Quelin, Chloé; Savariray...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 11(2018)
Page Start:
1611
Record Type:
Journal Article
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9. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. Issue 4 (22nd January 2018)

Authors:
Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona S; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pabl...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 4(2018)
Page Start:
278
Record Type:
Journal Article
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10. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Issue 6 (13th March 2017)

Authors:
Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Do...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 6(2017)
Page Start:
371
Record Type:
Journal Article
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