Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Paul Kuentz"'
Autor:
Christophe Philippe, Paul Kuentz, Yannis Duffourd, Laurent Guibaud, Pierre Vabres, N. Bourgon, C. Thauvin-Robinet, Virginie Carmignac, Laurence Faivre, Arthur Sorlin
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 59:532-542
To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality and suspicion of a localized overgrowth disorder (LOD) suggestive of genetic variants in the PI3K-AKT-mTOR signali
Autor:
Julian Delanne, Magaly Lecat, Patrick R. Blackburn, Eric W. Klee, Constance T.R.M. Stumpel, Sander Stegmann, Servi J.C. Stevens, Caroline Nava, Delphine Heron, Boris Keren, Sonal Mahida, Sakkubai Naidu, Dusica Babovic-Vuksanovic, Johanna C. Herkert, Pernille M. Torring, Maria Kibæk, Isabelle De Bie, Rolph Pfundt, Yvonne M.C. Hendriks, Lilian Bomme Ousager, Renee Bend, Hannah Warren, Steven A. Skinner, Michael J. Lyons, Charlotte Pöe, Martin Chevarin, Thibaud Jouan, Aurore Garde, Quentin Thomas, Paul Kuentz, Emilie Tisserant, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
European Journal of Medical Genetics, 66(1):104670. Elsevier
Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature.Using exome sequencing (ES) and international data sharing, we identified 14 addi
Autor:
Geoffroy Delplancq, Mohamed Abdelatif Boukebir, Daniel Amsallem, Laurent Thines, Virginie Rozé, Eric Dahlen, Lionel Van Maldergem, Paul Kuentz
Publikováno v:
Neuropediatrics. 53:274-278
Potocki–Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to the W
Autor:
Federico Di Rocco, Maria Lucia Licci, Aurore Garde, Carmine Mottolese, Christel Thauvin-Robinet, Martin Chevarin, Laurent Guibaud, Pierre Vabres, Paul Kuentz, Laurence Faivre
Publikováno v:
European Journal of Medical Genetics. 66:104678
Subjects with Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) can present with a Chiari Malformation Type 1 and resulting alterations in cerebrospinal fluid (CSF) dynamics, which may require surgical treatment. The aim of this pa
Autor:
N. Bourgon, Y. Duffour, Christophe Philippe, Pierre Vabres, V. Carmignac, Paul Kuentz, Laurent Guibaud, Arthur Sorlin, Christel Thauvin, Laurence Faivre
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 58:52-53
Autor:
Paul Kuentz, Nicolas Chassaing, Maella Severino-Freire, Pierre Vabres, Eliane Mery-Lemarche, Yannis Duffourd, Juliette Mazereeuw-Hautier, Aude Maza, Laurence Faivre, Edith Brazet
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
European Journal of Medical Genetics, Elsevier, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
European Journal of Medical Genetics, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
European Journal of Medical Genetics, Elsevier, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
IF 2.004; International audience; Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological involvement which ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e699d06297569f8dadbfa98477f8b1
https://u-bourgogne.hal.science/hal-01862400/document
https://u-bourgogne.hal.science/hal-01862400/document
Autor:
Judith St-Onge, Anne-Laure Mosca-Boidron, Thibaud Jouan, Frédéric Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Sebastien Moutton, Aurélie Bourchany, Nolwenn Jean, Aurélia Jaquette, Christel Thauvin-Robinet, Daphné Lehalle, Elise Schaefer, Nada Houcinat, Charlotte Poe, Yannis Duffourd, Paul Kuentz, Salima El Chehadeh-Djebbar, Alice Masurel-Paulet, Martin Chevarin, Laurence Faivre, Sophie Nambot, Marjorie Willems, Mathilde Lefebvre, Nicole Laurent, Antonio Vitobello, Frédéric Huet, Julien Thevenon, Patrick Callier, Jean-Baptiste Rivière, Christophe Philippe
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
IF 2.137; International audience; BACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125f5ad428afc365a62dc4dbfa3b08ee
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
Autor:
Teunis J. P. van Dam, Angélique Bole, Emilie Baudelet, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Jean-Paul Borg, Olivier Rosnet, Ange-Line Bruel, Melissa Lo Scalzo, Daniel Isnardon, Brunella Franco, Paul Kuentz, Martijn A. Huynen, Daniel Birnbaum, Laurence Faivre, Véronique Chevrier, Stéphane Audebert, Frédérique Lembo, Lydie Burglen, Julien Thevenon
Publikováno v:
Human Molecular Genetics, 25, 3, pp. 497-513
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. 〈https://academic.oup.com/hmg/article-abstract/25/3/497/2384544/OFIP-KIAA0753-forms-a-complex-with-OFD1-and-FOR20?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddv488〉
Human Molecular Genetics, 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Human Molecular Genetics, 25, 497-513
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. 〈https://academic.oup.com/hmg/article-abstract/25/3/497/2384544/OFIP-KIAA0753-forms-a-complex-with-OFD1-and-FOR20?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddv488〉
Human Molecular Genetics, 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Human Molecular Genetics, 25, 497-513
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Item does not contain fulltext Oral-facial-digital (OFD) syndromes are rare heterogeneous disorders characterized by the association of abnormalities of the face, the oral cavity and the extremities, some due to mutations in proteins of the transitio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8fe05b642013b6d8c800cfc966880e
https://doi.org/10.1093/hmg/ddv488
https://doi.org/10.1093/hmg/ddv488
Autor:
Joelle Makarian, Naeem Iqbal, Parastoo Modarres, Stéphane Viville, Dimitra Nikiforaki, Petra De Sutter, Sara Jaber, Noureddine Louanjli, Frauke Vanden Meerschaut, Jean Muller, Paul Kuentz, Elias ElInati, Björn Heindryckx, Florence Brugnon, Timur Gurgan, Moncef Benkhalifa, Frédérique Carré Pigeon, Isabelle Koscinski, Susan Gitlin, M R Deemeh, Mohammad Hossein Nasr-Esfahani, Kamran Ghaedi, Sergio Oehninger, Dominique De Briel, Mazen Bisharah, Aygul Demirol, Somayeh Tanhaei, Claire Redin, Jean-Marc Grillo, Hamid Gourabi
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (16), pp.3695-3702. ⟨10.1093/hmg/dds200⟩
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (16), pp.3695-3702. ⟨10.1093/hmg/dds200⟩
To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia. The two initial descriptions of the DPY19L2 deletion lead to a very different rate of occurrence of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45214ccc37d002f513657f3d7065a479
https://hal.archives-ouvertes.fr/hal-03421064
https://hal.archives-ouvertes.fr/hal-03421064