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	1.	Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management. [electronic resource] by Leclercq, Sandrine Baron, Xavier Jacquemont, Marie-Line Cuillier, Fabrice Cartault, François Producer: 20100401 In: Prenatal diagnosis vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Severe snoring in a child with pycnodysostosis treated with a bilateral rib graft. [electronic resource] by Teissier, Natacha Jacquemont, Marie-Line Blancal, Jean-Philippe Elmaleh-Bergès, Monique Van Den Abbeele, Thierry Bennaceur, Selim Producer: 20090420 In: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens. [electronic resource] by Ngukam, Angele Jacquemont, Marie Line Souville, Isabelle Viel, Marion Beldjord, Cherif Hubert, Dominique Hughes, Jean-Noël Bienvenu, Thierry Producer: 20040921 In: Journal of tropical pediatrics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter. [electronic resource] by Gruchy, Nicolas Jacquemont, Marie-Line Lyonnet, Stanislas Labrune, Philippe El Kamel, Imen Siffroi, Jean-Pierre Portnoï, Marie-France Producer: 20071206 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance. [electronic resource] by Philippe, Anne Malan, Valérie Jacquemont, Marie-Line Boddaert, Nathalie Bonnefont, Jean-Paul Odent, Sylvie Munnich, Arnold Colleaux, Laurence Cormier-Daire, Valérie Producer: 20160415 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. [electronic resource] by Cartault, François Munier, Patrick Jacquemont, Marie-Line Vellayoudom, Jeannine Doray, Bérénice Payet, Christine Randrianaivo, Hanitra Laville, Jean-Marc Munnich, Arnold Cormier-Daire, Valérie Producer: 20150805 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island. [electronic resource] by Fiore, Mathieu De Thoré, Céline Randrianaivo-Ranjatoelina, Hanitra Baas, Marie-Jeanne Jacquemont, Marie-Line Dreyfus, Marie Lavenu-Bombled, Cécile Li, Renhao Gachet, Christian Dupuis, Arnaud Lanza, Francois Producer: 20210201 In: British journal of haematology vol. 189 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. [electronic resource] by Bruneel, Arnaud Cholet, Sophie Drouin-Garraud, Valérie Jacquemont, Marie-Line Cano, Aline Mégarbané, André Ruel, Coralie Cheillan, David Dupré, Thierry Vuillaumier-Barrot, Sandrine Seta, Nathalie Fenaille, François Producer: 20191008 In: Electrophoresis vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. [electronic resource] by Le Dour, Caroline Schneebeli, Stéphane Bakiri, Fawzi Darcel, Françoise Jacquemont, Marie-Line Maubert, Marie-Anne Auclair, Martine Jeziorowska, Dorota Reznik, Yves Béréziat, Véronique Capeau, Jacqueline Lascols, Olivier Vigouroux, Corinne Producer: 20110630 In: The Journal of clinical endocrinology and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome. [electronic resource] by Bélien, Valérie Gérard-Blanluet, Marion Serero, Stéphane Le Dû, Nathalie Baumann, Clarisse Jacquemont, Marie-Line Dupont, Céline Krabchi, Kada Drunat, Séverine Elbez, Annie Janaud, Jean-Claude Benzacken, Brigitte Verloes, Alain Tabet, Anne-Claude Aboura, Azzedine Producer: 20080820 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. [electronic resource] by Gouronc, Aurélie Zilliox, Vincent Jacquemont, Marie-Line Darcel, Françoise Leuvrey, Anne-Sophie Nourisson, Elsa Antin, Manuela Alessandri, Jean-Luc Doray, Bérénice Gueguen, Paul Payet, Frédérique Randrianaivo, Hanitra Stoetzel, Corinne Scheidecker, Sophie Flodrops, Hugues Dollfus, Hélène Muller, Jean Producer: 20210709 In: Clinical genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5. [electronic resource] by Lerat, Justine Bonnet, Crystel Cartault, François Loundon, Natalie Jacquemont, Marie-Line Darcel, Françoise Rouillon, Isabelle Mezouaghi, Kheira Guichet, Agnes Litzler, Julie Gesny, Roselyne Gherbi, Souad Aissa, Ines Ben Digeon, Fabienne Saint James Garabedian, Eréa-Nöel Bonnefont, Jean-Paul Genin, Emmanuelle Denoyelle, Françoise Jonard, Laurence Marlin, Sandrine Producer: 20200211 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. [electronic resource] by Ghali, Neeti Baker, Duncan Brady, Angela F Burrows, Nigel Cervi, Elena Cilliers, Deirdre Frank, Michael Germain, Dominique P Hulmes, David J S Jacquemont, Marie-Line Kannu, Peter Lefroy, Henrietta Legrand, Anne Pope, F Michael Robertson, Lisa Vandersteen, Anthony von Klemperer, Kate Warburton, Renarta Whiteford, Margo van Dijk, Fleur S Producer: 20200204 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. [electronic resource] by Netchine, Irène Rossignol, Sylvie Dufourg, Marie-Noëlle Azzi, Salah Rousseau, Alexandra Perin, Laurence Houang, Muriel Steunou, Virginie Esteva, Blandine Thibaud, Nathalie Demay, Marie-Charles Raux Danton, Fabienne Petriczko, Elzbieta Bertrand, Anne-Marie Heinrichs, Claudine Carel, Jean-Claude Loeuille, Guy-André Pinto, Graziella Jacquemont, Marie-Line Gicquel, Christine Cabrol, Sylvie Le Bouc, Yves Producer: 20070917 In: The Journal of clinical endocrinology and metabolism vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. [electronic resource] by Alessandri, Jean-Luc Gordon, Christopher T Jacquemont, Marie-Line Gruchy, Nicolas Ajeawung, Norbert F Benoist, Guillaume Oufadem, Myriam Chebil, Asma Duffourd, Yannis Dumont, Coralie Gérard, Marion Kuentz, Paul Jouan, Thibaud Filippini, Francesca Nguyen, Thi Tuyet Mai Alibeu, Olivier Bole-Feysot, Christine Nitschké, Patrick Omarjee, Asma Ramful, Duksha Randrianaivo, Hanitra Doray, Bérénice Faivre, Laurence Amiel, Jeanne Campeau, Philippe M Thevenon, Julien Producer: 20181221 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. [electronic resource] by Khaikin, Yannay Sidky, Sarah Abdenur, Jose Anastasi, Arnaud Ballhausen, Diana Buoni, Sabrina Chan, Alicia Cheillan, David Dorison, Nathalie Goldenberg, Alice Goldstein, Jennifer Hofstede, Floris C Jacquemont, Marie-Line Koeberl, Dwight D Lion-Francois, Laurence Lund, Allan Meldgaard Mention, Karine Mundy, Helen O'Rourke, Declan Pitelet, Gaele Raspall-Chaure, Miquel Tassini, Maria Billette de Villemeur, Thierry Williams, Monique Salomons, Gajja S Mercimek-Andrews, Saadet Producer: 20180821 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. [electronic resource] by Tatton-Brown, Katrina Murray, Anne Hanks, Sandra Douglas, Jenny Armstrong, Ruth Banka, Siddharth Bird, Lynne M Clericuzio, Carol L Cormier-Daire, Valerie Cushing, Tom Flinter, Frances Jacquemont, Marie-Line Joss, Shelagh Kinning, Esther Lynch, Sally Ann Magee, Alex McConnell, Vivienne Medeira, Ana Ozono, Keiichi Patton, Michael Rankin, Julia Shears, Debbie Simon, Marleen Splitt, Miranda Strenger, Volker Stuurman, Kyra Taylor, Clare Titheradge, Hannah Van Maldergem, Lionel Temple, I Karen Cole, Trevor Seal, Sheila Rahman, Nazneen Producer: 20140702 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. [electronic resource] by Lehalle, Daphné Gordon, Christopher T Oufadem, Myriam Goudefroye, Géraldine Boutaud, Lucile Alessandri, Jean-Luc Baena, Neus Baujat, Geneviève Baumann, Clarisse Boute-Benejean, Odile Caumes, Roseline Decaestecker, Charles Gaillard, Dominique Goldenberg, Alice Gonzales, Marie Holder-Espinasse, Muriel Jacquemont, Marie-Line Lacombe, Didier Manouvrier-Hanu, Sylvie Marlin, Sandrine Mathieu-Dramard, Michèle Morin, Gilles Pasquier, Laurent Petit, Florence Rio, Marlène Smigiel, Robert Thauvin-Robinet, Christel Vasiljevic, Alexandre Verloes, Alain Malan, Valérie Munnich, Arnold de Pontual, Loïc Vekemans, Michel Lyonnet, Stanislas Attié-Bitach, Tania Amiel, Jeanne Producer: 20150129 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Finger creases lend a hand in Kabuki syndrome. [electronic resource] by Michot, Caroline Corsini, Carole Sanlaville, Damien Baumann, Clarisse Toutain, Annick Philip, Nicole Busa, Tiffany Holder, Muriel Faivre, Laurence Odent, Sylvie Delrue, Marie-Ange Till, Marianne Jacquemont, Marie-Line Cordier, Marie-Pierre Goldenberg, Alice Sanchez, Elodie Alix, Eudeline Poisson, Sylvain Kayirangwa, Honorine Lacombe, Didier Gilbert-Dussardier, Brigitte Pelet, Anna Roume, Joëlle Jacquette, Aurélia Isidor, Bertrand Giuliano, Fabienne Burglen, Lydie Fradin, Mélanie Schaefer, Elise Alembick, Yves Doray, Bérénice Moncla, Anne Héron, Delphine Willems, Marjolaine Pinson, Lucile Le Quan Sang, Kim Hanh Le Merrer, Martine Cormier-Daire, Valérie Sarda, Pierre Amiel, Jeanne Lyonnet, Stanislas Geneviève, David Producer: 20140519 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Clinical and molecular spectrum of renal malformations in Kabuki syndrome. [electronic resource] by Courcet, Jean-Benoît Faivre, Laurence Michot, Caroline Burguet, Antoine Perez-Martin, Stéphanie Alix, Eudeline Amiel, Jeanne Baumann, Clarisse Cordier, Marie-Pierre Cormier-Daire, Valérie Delrue, Marie Ange Gilbert-Dussardier, Brigitte Goldenberg, Alice Jacquemont, Marie-Line Jaquette, Aurélia Kayirangwa, Honorine Lacombe, Didier Le Merrer, Martine Toutain, Annick Odent, Sylvie Moncla, Anne Pelet, Anna Philip, Nicole Pinson, Lucille Poisson, Sylvain Kim-Han, Le Quan Sang Roume, Joelle Sanchez, Elodie Willems, Marjolaine Till, Marianne Vincent-Delorme, Catherine Mousson, Christiane Vinault, Sandrine Binquet, Christine Huet, Frédéric Sarda, Pierre Salomon, Rémi Lyonnet, Stanislas Sanlaville, Damien Geneviève, David Producer: 20131118 In: The Journal of pediatrics vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 33 results.