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	21.	Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell Carcinoma. [electronic resource] by Guinard, Elisabeth Legendre, Laureline Kramkimel, Nora Avril, Marie Françoise Chassaing, Nicolas Cabaret, Odile Guillaud-Bataille, Marine Mazereeuw Hautier, Juliette Producer: 20170425 In: Dermatology (Basel, Switzerland) vol. 232 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. [electronic resource] by Chassaing, Nicolas Kanitakis, Jean Sportich, Stéphanie Cordier-Alex, Marie-Pierre Titeux, Matthias Calvas, Patrick Claudy, Alain Berbis, P Hovnanian, Alain Producer: 20061214 In: The Journal of investigative dermatology vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. [electronic resource] by Chassaing, Nicolas Ragge, Nicola Plaisancié, Julie Patat, Oliver Geneviève, David Rivier, François Malrieu-Eliaou, Claudie Hamel, Christian Kaplan, Josseline Calvas, Patrick Producer: 20171023 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. [electronic resource] by Faguer, Stanislas Chassaing, Nicolas Bandin, Flavio Prouheze, Cathie Arveiler, Benoît Rooryck, Caroline Nogier, Marie-Béatrice Chauveau, Dominique Calvas, Patrick Decramer, Stéphane Producer: 20111031 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	The HNF1B score is a simple tool to select patients for HNF1B gene analysis. [electronic resource] by Faguer, Stanislas Chassaing, Nicolas Bandin, Flavio Prouheze, Cathie Garnier, Arnaud Casemayou, Audrey Huart, Antoine Schanstra, Joost P Calvas, Patrick Decramer, Stéphane Chauveau, Dominique Producer: 20150701 In: Kidney international vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Incomplete penetrance of biallelic ALDH1A3 mutations. [electronic resource] by Plaisancié, Julie Brémond-Gignac, Dominique Demeer, Bénédicte Gaston, Véronique Verloes, Alain Fares-Taie, Lucas Gerber, Sylvie Rozet, Jean-Michel Calvas, Patrick Chassaing, Nicolas Producer: 20161213 In: European journal of medical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Severe gynaecological involvement in Proteus Syndrome. [electronic resource] by Severino-Freire, Maella Maza, Aude Kuentz, Paul Duffourd, Yannis Faivre, Laurence Brazet, Edith Chassaing, Nicolas Mery-Lemarche, Eliane Vabres, Pierre Mazereeuw-Hautier, Juliette Producer: 20190401 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Identification of PITX3 mutations in individuals with various ocular developmental defects. [electronic resource] by Zazo Seco, Celia Plaisancié, Julie Lupasco, Tatiana Michot, Caroline Pechmeja, Jacmine Delanne, Julian Cottereau, Edouard Ayuso, Carmen Corton, Marta Calvas, Patrick Ragge, Nicola Chassaing, Nicolas Producer: 20190410 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. [electronic resource] by Faguer, Stanislas Decramer, Stéphane Chassaing, Nicolas Bellanné-Chantelot, Christine Calvas, Patrick Beaufils, Sandrine Bessenay, Lucie Lengelé, Jean-Philippe Dahan, Karine Ronco, Pierre Devuyst, Olivier Chauveau, Dominique Producer: 20130417 In: Kidney international vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. [electronic resource] by Faguer, Stanislas De Sandre-Giovannoli, Annachiara Hemery, Michèle Lévy, Nicolas Lamant, Laurence Arveiler, Benoît Rooryck, Caroline Prouheze, Cathie Vigouroux, Adeline Chauveau, Dominique Calvas, Patrick Chassaing, Nicolas Producer: 20110928 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling. [electronic resource] by Mieusset, Roger Fauquet, Isabelle Chauveau, Dominique Monteil, Laetitia Chassaing, Nicolas Daudin, Myriam Huart, Antoine Isus, François Prouheze, Cathy Calvas, Patrick Bieth, Eric Bujan, Louis Faguer, Stanislas Producer: 20171011 In: Journal of nephrology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. [electronic resource] by Chassaing, Nicolas Siani, Virginie Carles, Dominique Delezoide, Anne Lise Alberti, Eve Marie Battin, Jacques Chateil, Jean François Gilbert-Dussardier, Brigitte Coupry, Isabelle Arveiler, Benoit Saura, Robert Lacombe, Didier Producer: 20050822 In: American journal of medical genetics. Part A vol. 136A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. [electronic resource] by Simon, Delphine Laloo, Benoit Barillot, Malika Barnetche, Thomas Blanchard, Camille Rooryck, Caroline Marche, Michèle Burgelin, Ingrid Coupry, Isabelle Chassaing, Nicolas Gilbert-Dussardier, Brigitte Lacombe, Didier Grosset, Christophe Arveiler, Benoit Producer: 20100721 In: Human molecular genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. [electronic resource] by Costrop, Laura M F Vanakker, Olivier O M Van Laer, Lut Le Saux, Olivier Martin, Ludovic Chassaing, Nicolas Guerra, Deanna Pasquali-Ronchetti, Ivonne Coucke, Paul J De Paepe, Anne Producer: 20100525 In: Journal of human genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. [electronic resource] by Chesneau, Bertrand Edouard, Thomas Dulac, Yves Colineaux, Hélène Langeois, Maud Hanna, Nadine Boileau, Catherine Arnaud, Pauline Chassaing, Nicolas Julia, Sophie Jondeau, Guillaume Plancke, Aurélie Khau Van Kien, Philippe Plaisancié, Julie Producer: 20210402 In: Molecular genetics & genomic medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Hepatocyte Nuclear Factor-1 [electronic resource] by Casemayou, Audrey Fournel, Audren Bagattin, Alessia Schanstra, Joost Belliere, Julie Decramer, Stéphane Marsal, Dimitri Gillet, Marion Chassaing, Nicolas Huart, Antoine Pontoglio, Marco Knauf, Claude Bascands, Jean-Loup Chauveau, Dominique Faguer, Stanislas Producer: 20171109 In: Journal of the American Society of Nephrology : JASN vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. [electronic resource] by Zazo-Seco, Celia Plaisancié, Julie Bitoun, Pierre Corton, Marta Arteche, Ana Ayuso, Carmen Schneider, Adele Zafeiropoulou, Dimitra Gilissen, Christian Roche, Olivier Frémont, Felix Calvas, Patrick Slavotinek, Anne Ragge, Nicola Chassaing, Nicolas Producer: 20201217 In: Journal of human genetics vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. [electronic resource] by Patat, Olivier Pagin, Adrien Siegfried, Aurore Mitchell, Valérie Chassaing, Nicolas Faguer, Stanislas Monteil, Laetitia Gaston, Véronique Bujan, Louis Courtade-Saïdi, Monique Marcelli, François Lalau, Guy Rigot, Jean-Marc Mieusset, Roger Bieth, Eric Producer: 20170509 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains. [electronic resource] by Khau Van Kien, Philippe Baux, David Pallares-Ruiz, Nathalie Baudoin, Corinne Plancke, Aurélie Chassaing, Nicolas Collignon, Patrick Drouin-Garraud, Valérie Hovnanian, Alain Martin-Coignard, Dominique Collod-Béroud, Gwenaëlle Béroud, Christophe Roux, Anne-Françoise Claustres, Mireille Producer: 20100312 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. [electronic resource] by Millat, Gilles Bouvagnet, Patrice Chevalier, Philippe Dauphin, Claire Jouk, Pierre Simon Da Costa, Antoine Prieur, Fabienne Bresson, Jean-Luc Faivre, Laurence Eicher, Jean-Christophe Chassaing, Nicolas Crehalet, Hervé Porcher, Raphael Rodriguez-Lafrasse, Claire Rousson, Robert Producer: 20110111 In: European journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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