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Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset
Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.
Accès libre Peer reviewed
Goussot Raphaëlle, Prasad Megana, Stoetzel Corinne, Lenormand Cédric, Dollfus Helene, Lipsker Dan
Articles Scientifiques
JAAD case reports
Laboratoire de Génétique Médicale - LGM - UMRS1112
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Pas de texte intégral
Schaefer Elise, Stoetzel Corinne, Scheidecker Sophie, Geoffroy Véronique, Prasad Megana, Redin C, Missotte I, Lacombe D, Mandel J, Muller Jean, Dollfus Helene
Articles Scientifiques
2016-01-14
Journal of Human Genetics
Laboratoire de Génétique Médicale - LGM - UMRS1112
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Pas de texte intégral
Rey Tristan, Tarabeux Julien, Gerard Bénédicte, Delbarre Marion, Le Béchec Antony, Stoetzel Corinne, Prasad Megana, Laugel-Haushalter Virginie, Kawczynski Marzena, Muller Jean, Chelly Jamel, Dollfus Hélène, Maniere Marie-Cécile, Bloch-Zupan Agnès
Articles Scientifiques
Methods in molecular biology (Clifton, N.J.)
Laboratoire de Génétique Médicale - LGM - UMRS1112
Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964
Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMR7104
Nanomédecine Régénérative - NanoRegMed - UMRS1260
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
Pas de texte intégral
Hufnagel R, Arno G, Hein N, Hersheson J, Prasad Megana, Anderson Y, Krueger L, Gregory L, Stoetzel Corinne, Jaworek T, Hull S, Li A, Plagnol V, Willen C, Morgan T, Prows C, Hegde R, Riazuddin S, Grabowski G, Richardson R, Dieterich K, Huang T, Revesz T, Martinez-Barbera J, Sisk R, Jefferies C, Houlden H, Dattani M, Fink J, Dollfus Helene, Moore A, Ahmed Z
Articles Scientifiques
2015
Journal of Medical Genetics
Laboratoire de Génétique Médicale - LGM - UMRS1112

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