PMC Articles for MedGen (Select 477585) - PMC

Select item 107203081.

Case Report: Transcatheter treatment of aortic coarctation in a 58-year-old patient with LACHT syndrome and left lung agenesis

Qingxian Tu, Nanqu Huang, Fujia Guo, Minhong Luo, Min Xu, Jiaji Liu, Zhengqiang Yuan, Qianfeng Jiang

Front Cardiovasc Med. 2023; 10: 1239624. Published online 2023 Nov 30. doi: 10.3389/fcvm.2023.1239624

PMCID:: PMC10720308

Abstract Article PDF–7.2M

Select item 51088512.

Right Lung Agenesis with Tracheal Stenosis due to Complete Tracheal Rings and Postpneumonectomy Like Syndrome Treated with Tissue Expander Placement

Yashwant Agrawal, Sandeep Patri, Jagadeesh K. Kalavakunta

Case Rep Pulmonol. 2016; 2016: 4397641. Published online 2016 Nov 1. doi: 10.1155/2016/4397641

PMCID:: PMC5108851

Abstract Article PDF–731K

Select item 101201353.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

AL Soilly, C Robert-Viard, C Besse, AL Bruel, B Gerard, A Boland, A Piton, Y Duffourd, J Muller, C Poë, T Jouan, S El Doueiri, L Faivre, D Bacq-Daian, B Isidor, D Genevieve, S Odent, N Philip, M Doco-Fenzy, D Lacombe, ML Asensio, JF Deleuze, C Binquet, DISSEQ Investigators Group, C Thauvin-Robinet, C Lejeune

BMC Health Serv Res. 2023; 23: 386. Published online 2023 Apr 21. doi: 10.1186/s12913-023-09373-z

PMCID:: PMC10120135

Abstract Article PDF–1.7M

Select item 92777884.

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger

Orphanet J Rare Dis. 2022; 17(Suppl 1): 261. Published online 2022 Jul 12. doi: 10.1186/s13023-022-02423-5

PMCID:: PMC9277788

Abstract Article PDF–1.5M

Select item 65709645.

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake

BMC Med Genet. 2019; 20: 108. Published online 2019 Jun 14. doi: 10.1186/s12881-019-0839-2

PMCID:: PMC6570964

Abstract Article PDF–7.1M

Select item 47952206.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

Stéphanie Baert-Desurmont, Françoise Charbonnier, Estelle Houivet, Lorena Ippolito, Jacques Mauillon, Marion Bougeard, Caroline Abadie, David Malka, Jacqueline Duffour, Françoise Desseigne, Chrystelle Colas, Pascal Pujol, Sophie Lejeune, Catherine Dugast, Bruno Buecher, Laurence Faivre, Dominique Leroux, Paul Gesta, Isabelle Coupier, Rosine Guimbaud, Pascaline Berthet, Sylvie Manouvrier, Estelle Cauchin, Fabienne Prieur, Pierre Laurent-Puig, Marine Lebrun, Philippe Jonveaux, Jean Chiesa, Olivier Caron, Marie-Emmanuelle Morin-Meschin, Florence Polycarpe-Osaer, Sophie Giraud, Aziz Zaanan, Delphine Bonnet, Ludovic Mansuy, Valérie Bonadona, Salima El Chehadeh, François Duhoux, Marion Gauthier-Villars, Jean-Christophe Saurin, Marie- Agnès Collonge-Rame, Laurence Brugières, Qing Wang, Brigitte Bressac-de Paillerets, Jean-Marc Rey, Christine Toulas, Marie-Pierre Buisine, Myriam Bronner, Joanna Sokolowska, Agnès Hardouin, Anne-Françoise Cailleux, Hakim Sebaoui, Julien Blot, Julie Tinat, Jacques Benichou, Thierry Frebourg

Eur J Hum Genet. 2016 Jan; 24(1): 99–105. Published online 2015 Apr 15. doi: 10.1038/ejhg.2015.72

PMCID:: PMC4795220

Abstract Article PDF–398K

Select item 44304667.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew A. Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gerard, Juliane Leger, Valérie Drouin-Garraud, Hervé Lefebvre, Michel Polak, Jean-Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolas de Roux, Nelly Pitteloud

Genet Med. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Genet Med. 2015 Aug; 17(8): 651–659. Published online 2014 Nov 13. doi: 10.1038/gim.2014.166

PMCID:: PMC4430466

Abstract Article PDF–739K

Select item 42667458.

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne-Lise Delezoide, Chloé Quélin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Megarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, Joëlle Roume, Bertrand Isidor, Didier Lacombe, Marie-Ange Delrue, Sandra Mercier, Nicole Philip, Elise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaelle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux-Coeslier, Marie-Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier-Daire, Louise Devisme, David Geneviève, Arnold Munnich, Géraldine Viot, Odile Raoul, Serge Romana, Marie Gonzales, Ferechte Encha-Razavi, Sylvie Odent, Michel Vekemans, Tania Attie-Bitach

Eur J Hum Genet. 2015 Jan; 23(1): 92–102. Published online 2014 Apr 16. doi: 10.1038/ejhg.2014.62

PMCID:: PMC4266745

Abstract Article PDF–1.5M

Select item 38956339.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Frederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, Elodie Sanchez, Jacques Puechberty, Sabine Endele, Anouck Schneider, Nathalie Ruiz Pallares, Chantal Missirian, Francois Rivier, Manon Girard, Muriel Holder, Sylvie Manouvrier, Isabelle Touitou, Genevieve Lefort, Pierre Sarda, Anne Moncla, Severine Drunat, Dagmar Wieczorek, David Genevieve

Eur J Hum Genet. 2014 Feb; 22(2): 289–292. Published online 2013 May 15. doi: 10.1038/ejhg.2013.113

PMCID:: PMC3895633

Abstract Article PDF–610K

Select item 331653910.

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan

PLoS One. 2012; 7(3): e32505. Published online 2012 Mar 30. doi: 10.1371/journal.pone.0032505

PMCID:: PMC3316539

Abstract Article PDF–238K

Select item 318421211.

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie Van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Munnich, Joana Alves Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion-Caude, Andrea Ventura, Jeanne Amiel

Nat Genet. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: Nat Genet. 2011 Oct; 43(10): 1026–1030. Published online 2011 Sep 4. doi: 10.1038/ng.915

PMCID:: PMC3184212

Article PDF–1.1M

Select item 298667312.

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Aurélie Plancke, Muriel Holder-Espinasse, Valérie Rigau, Sylvie Manouvrier, Mireille Claustres, Philippe Khau Van Kien

Eur J Hum Genet. 2009 Nov; 17(11): 1411–1416. Published online 2009 May 20. doi: 10.1038/ejhg.2009.76

PMCID:: PMC2986673

Abstract Article PDF–290K

Select item 282614513.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro Nishio, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony Moore, David Fitzpatrick, Johannes Lemke, Florence Fellmann, François-Guillaume Debray, Florence Dastot-Le-Moal, Marion Gerard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloes, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly Hay, Kim Jenny, Kathreen Johnston, Michael Lyons, John W Belmont, Leslie G Biesecker, Irina Giurgea, Graeme Black

Eur J Hum Genet. 2009 Oct; 17(10): 1325–1335. Published online 2009 Apr 15. doi: 10.1038/ejhg.2009.52

PMCID:: PMC2826145

Abstract Article PDF–328K

Select item 259792914.

Genotype–phenotype correlation of 30 patients with Smith‐Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

J Andrieux, C Villenet, S Quief, S Lignon, S Geffroy, C Roumier, H de Leersnyder, M‐C de Blois, S Manouvrier, B Delobel, B Benzacken, P Bitoun, T Attie‐Bitach, S Thomas, S Lyonnet, M Vekemans, J‐P Kerckaert

J Med Genet. 2007 Aug; 44(8): 537–540. Published online 2007 May 11. doi: 10.1136/jmg.2006.048736

PMCID:: PMC2597929

Abstract Article PDF–291K

Select item 128808915.

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

MiiaÂ Melkoniemi, HanÂ G.Â Brunner, SylvieÂ Manouvrier, RaoulÂ Hennekam, AndreaÂ Superti-Furga, HelenaÂ Kääriäinen, RichardÂ M.Â Pauli, TonÂ vanÂ Essen, MatthewÂ L.Â Warman, JackyÂ Bonaventure, PeterÂ Miny, LeenaÂ Ala-Kokko

Am J Hum Genet. 2000 Feb; 66(2): 368–377. doi: 10.1086/302750

PMCID:: PMC1288089

Abstract Article PDF–844K

Select item 105164516.

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

S Manouvrier, A Rötig, G Hannebique, J D Gheerbrandt, G Royer-Legrain, A Munnich, M Parent, J P Grünfeld, C Largilliere, A Lombes, et al.

J Med Genet. 1995 Aug; 32(8): 654–656. doi: 10.1136/jmg.32.8.654

PMCID:: PMC1051645

Summary Page Browse PDF–505K

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