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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Le Goff, Carine ; Mahaut, Clémentine ; Wang, Lauren W. ; Allali, Slimane ; Abhyankar, Avinash ; Jensen, Sacha ; Zylberberg, Louise ; Collod-Beroud, Gwenaelle ; Bonnet, Damien ; Alanay, Yasemin ; Brady, Angela F. ; Cordier, Marie-Pierre ; Devriendt, Koen ; Genevieve, David ; Kiper, Pelin Özlem Simsek ; Kitoh, Hiroshi ; Krakow, Deborah ; Lynch, Sally Ann ; Le Merrer, Martine ; Mégarbane, André ; Mortier, Geert ; Odent, Sylvie ; Polak, Michel ; Rohrbach, Marianne ; Sillence, David ; Stolte-Dijkstra, Irene ; Superti-Furga, Andrea ; Rimoin, David L. ; Topouchian, Vicken ; Unger, Sheila ; Zabel, Bernhard ; Bole-Feysot, Christine ; Nitschke, Patrick ; Handford, Penny ; Casanova, Jean-Laurent ; Boileau, Catherine ; Apte, Suneel S. ; Munnich, Arnold ; Cormier-Daire, Valérie

American journal of human genetics, 2011-07, Vol.89 (1), p.7-14 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome
Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome
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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Baujat, Geneviève ; Rio, Marlène ; Rossignol, Sylvie ; Sanlaville, Damien ; Lyonnet, Stanislas ; Le Merrer, Martine ; Munnich, Arnold ; Gicquel, Christine ; Cormier-Daire, Valérie ; Colleaux, Laurence

American journal of human genetics, 2004-04, Vol.74 (4), p.715-720 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
C5orf42 is the major gene responsible for OFD syndrome type VI
C5orf42 is the major gene responsible for OFD syndrome type VI
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C5orf42 is the major gene responsible for OFD syndrome type VI

Lopez, Estelle ; Thauvin-Robinet, Christel ; Reversade, Bruno ; Khartoufi, Nadia El ; Devisme, Louise ; Holder, Muriel ; Ansart-Franquet, Hélène ; Avila, Magali ; Lacombe, Didier ; Kleinfinger, Pascale ; Kaori, Irahara ; Takanashi, Jun-Ichi ; Le Merrer, Martine ; Martinovic, Jelena ; Noël, Catherine ; Shboul, Mohammad ; Ho, Lena ; Güven, Yeliz ; Razavi, Ferechté ; Burglen, Lydie ; Gigot, Nadège ; Darmency-Stamboul, Véronique ; Thevenon, Julien ; Aral, Bernard ; Kayserili, Hülya ; Huet, Frédéric ; Lyonnet, Stanislas ; Le Caignec, Cédric ; Franco, Brunella ; Rivière, Jean-Baptiste ; Faivre, Laurence ; Attié-Bitach, Tania

Human genetics, 2014-03, Vol.133 (3), p.367-377 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Navarro, Claire L. ; De Sandre-Giovannoli, Annachiara ; Bernard, Rafaëlle ; Boccaccio, Irène ; Boyer, Amandine ; Geneviève, David ; Hadj-Rabia, Smail ; Gaudy-Marqueste, Caroline ; Smitt, Henk Sillevis ; Vabres, Pierre ; Faivre, Laurence ; Verloes, Alain ; Van Essen, Ton ; Flori, Elisabeth ; Hennekam, Raoul ; Beemer, Frits A. ; Laurent, Nicole ; Le Merrer, Martine ; Cau, Pierre ; Lévy, Nicolas

Human molecular genetics, 2004-10, Vol.13 (20), p.2493-2503 [Periódico revisado por pares]

Oxford: Oxford University Press

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5
Growth charts in Kabuki syndrome 1
Growth charts in Kabuki syndrome 1
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Growth charts in Kabuki syndrome 1

Ruault, Valentin ; Corsini, Carole ; Duflos, Claire ; Akouete, Sandrine ; Georgescu, Véra ; Abaji, Mario ; Alembick, Yves ; Alix, Eudeline ; Amiel, Jeanne ; Amouroux, Cyril ; Barat‐Houari, Mouna ; Baumann, Clarisse ; Bonnard, Adeline ; Boursier, Guilaine ; Boute, Odile ; Burglen, Lydie ; Busa, Tiffany ; Cordier, Marie‐Pierre ; Cormier‐Daire, Valérie ; Delrue, Marie‐Ange ; Doray, Bérénice ; Faivre, Laurence ; Fradin, Mélanie ; Gilbert‐Dussardier, Brigitte ; Giuliano, Fabienne ; Goldenberg, Alice ; Gorokhova, Svetlana ; Héron, Delphine ; Isidor, Bertrand ; Jacquemont, Marie‐Line ; Jacquette, Aurélia ; Jeandel, Claire ; Lacombe, Didier ; Le Merrer, Martine ; Sang, Kim Hanh Le Quan ; Lyonnet, Stanislas ; Manouvrier, Sylvie ; Michot, Caroline ; Moncla, Anne ; Moutton, Sébastien ; Odent, Sylvie ; Pelet, Anna ; Philip, Nicole ; Pinson, Lucile ; Reversat, Julie ; Roume, Joëlle ; Sanchez, Elodie ; Sanlaville, Damien ; Sarda, Pierre ; Schaefer, Elise ; Till, Marianne ; Touitou, Isabelle ; Toutain, Annick ; Willems, Marjolaine ; Gatinois, Vincent ; Geneviève, David

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.446-453 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
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Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

LAJEUNIE, Elisabeth ; HEUERTZ, Solange ; EL GHOUZZI, Vincent ; MARTINOVIC, Jelena ; RENIER, Dominique ; LE MERRER, Martine ; BONAVENTURE, Jacky

European journal of human genetics : EJHG, 2006-03, Vol.14 (3), p.289-298 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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7
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

REDON, Richard ; BAUJAT, Geneviève ; SANLAVILLE, Damien ; LE MERRER, Martine ; VEKEMANS, Michel ; MUNNICH, Arnold ; CARTER, Nigel P ; CORMIER-DAIRE, Valérie ; COLLEAUX, Laurence

European journal of human genetics : EJHG, 2006-06, Vol.14 (6), p.759-767 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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8
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis : clinical spectrum, prevalence, and surgical outcome
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis : clinical spectrum, prevalence, and surgical outcome
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis : clinical spectrum, prevalence, and surgical outcome

RENIER, D ; EL GHOUZZI, V ; BONAVENTURE, J ; LE MERRER, M ; LAJEUNIE, E

Journal of neurosurgery, 2000-04, Vol.92 (4), p.631-636 [Periódico revisado por pares]

Park Ridge, IL: American Association of Neurological Surgeons

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9
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
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Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders

Attias, David ; Stheneur, Chantal ; Roy, Carine ; Collod-Béroud, Gwenaëlle ; Detaint, Delphine ; Faivre, Laurence ; Delrue, Marie-Ange ; Cohen, Laurence ; Francannet, Christine ; Béroud, Christophe ; Claustres, Mireille ; Iserin, Franck ; Khau Van Kien, Philippe ; Lacombe, Didier ; Le Merrer, Martine ; Lyonnet, Stanislas ; Odent, Sylvie ; Plauchu, Henri ; Rio, Marlène ; Rossi, Annick ; Sidi, Daniel ; Steg, Philippe Gabriel ; Ravaud, Philippe ; Boileau, Catherine ; Jondeau, Guillaume

Circulation (New York, N.Y.), 2009-12, Vol.120 (25), p.2541-2549 [Periódico revisado por pares]

United States: American Heart Association

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10
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Colleaux, L ; Rio, M ; Heuertz, S ; Moindrault, S ; Turleau, C ; Ozilou, C ; Gosset, P ; Raoult, O ; Lyonnet, S ; Cormier-Daire, V ; Amiel, J ; Le Merrer, M ; Picq, M ; de Blois, M C ; Prieur, M ; Romana, S ; Cornelis, F ; Vekemans, M ; Munnich, A

European journal of human genetics : EJHG, 2001-05, Vol.9 (5), p.319-327 [Periódico revisado por pares]

England: Nature Publishing Group

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