1. Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis. Issue 10 (25th August 2020) Authors: Ruault, Valentin; Yauy, Kevin; Fabre, Aurélie; Fradin, Mélanie; Van-Gils, Julien; Angelini, Chloé; Baujat, Geneviève; Blanchet, Patricia; Cuinat, Silvestre; Isidor, Bertrand; Jorgensen, Christian; Lacombe, Didier; Moutton, Sébastien; Odent, Sylvie; Sanchez, Elodie; Sigaudy, Sabine; Touitou, Isabe... Journal: Arthritis & rheumatology Issue: Volume 72:Issue 10(2020) Page Start: 1689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021) Authors: Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. Issue 12 (14th November 2017) Authors: Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Arnaud, Eric; Blanchet, Patricia; Choi, Jong‐Woo; Désir, Julie; Kiliç, Esra; Lederer, Damien; Pinson, Lucile; Thauvin‐Robinet, Christel; Singer, Amihood; Thevenon, Julien; Callier, Patrick; Kayserili, Hulya; Faivre, Laurence Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Issue 5 (15th March 2017) Authors: Issa, Sarah; Bondurand, Nadege; Faubert, Emmanuelle; Poisson, Sylvain; Lecerf, Laure; Nitschke, Patrick; Deggouj, Naima; Loundon, Natalie; Jonard, Laurence; David, Albert; Sznajer, Yves; Blanchet, Patricia; Marlin, Sandrine; Pingault, Veronique Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Issue 11 (26th August 2021) Authors: Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J.; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L.; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertra... Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations. Issue 11 (7th September 2019) Authors: Gatinois, Vincent; Bigi, Nicole; Mousty, Eve; Chiesa, Jean; Musizzano, Yuri; Schneider, Anouck; Lefort, Geneviève; Pinson, Lucile; Gaillard, Jean‐Baptiste; Ragon, Clémence; Perez, Marie‐Josée; Tournaire, Magali; Blanchet, Patricia; Corsini, Carole; Haquet, Emmanuelle; Callier, Patrick; Geneviève,... Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 11(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. Issue 9 (6th August 2015) Authors: Brioude, Frederic; Netchine, Irène; Praz, Francoise; Le Jule, Marilyne; Calmel, Claire; Lacombe, Didier; Edery, Patrick; Catala, Martin; Odent, Sylvie; Isidor, Bertrand; Lyonnet, Stanislas; Sigaudy, Sabine; Leheup, Bruno; Audebert‐Bellanger, Séverine; Burglen, Lydie; Giuliano, Fabienne; Alessandr... Journal: Human mutation Issue: Volume 36:Issue 9(2015:Sep.) Page Start: 894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prevalence and timing of pregnancy termination for brain malformations. Issue 5 (19th January 2011) Authors: Rouleau, Caroline; Gasner, Adeline; Bigi, Nicole; Couture, Alain; Perez, Marie Josée; Blanchet, Patricia; Faure, Jean Michel; Rivier, François; Boulot, Pierre; Laquerrière, Annie; Encha-Razavi, Ferechté Journal: Archives of disease in childhood Issue: Volume 96:Issue 5(2011) Page Start: F360 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. Issue 7 (13th April 2011) Authors: Jeanpierre, Cécile; Macé, Guillaume; Parisot, Mélanie; Morinière, Vincent; Pawtowsky, Audrey; Benabou, Marion; Martinovic, Jelena; Amiel, Jeanne; Attié-Bitach, Tania; Delezoide, Anne-Lise; Loget, Philippe; Blanchet, Patricia; Gaillard, Dominique; Gonzales, Marie; Carpentier, Wassila; Nitschke, Pa... Journal: Journal of medical genetics Issue: Volume 48:Issue 7(2011) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗