Biblio

33 resultats trouvés
Filtres: Auteur is Sanlaville, D.  [Clear All Filters]
A
Rossi M., Lesca G., Chatron N., Labalme A., Sanlaville D., Fassier A., Escande F., Manouvrier S., Faivre L., Edery P. et al..  2019.  A new recognizable syndrome caused by mutations in the PITX1 gene. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:374-375.
Kuentz P., Keren B., Sanlaville D., Masurel A., Mosca A., Marle N., Payet M., Ragon C., Pouleau M., Thauvin-Robinet C. et al..  2019.  Atypical recombinant chromosomes arising from parental paracentric inversions: report of three patients. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:487-488.
Kuentz P., Keren B., Sanlaville D., Masurel A., Mosca A., Marle N., Payet M., Ragon C., Pouleau M., Thauvin-Robinet C. et al..  2019.  Atypical recombinant chromosomes arising from parental paracentric inversions: report of three patients. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:487-488.
C
Demougeot L., Houdayer F., Pelissier A., Mohrez F., Thevenon J., Duffourd Y., Nambot S., Gautier E., Binquet C., Rossi M. et al..  2018.  Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases. ARCHIVES DE PEDIATRIE. 25:77-83.
D
Sorlin A., Tisserant E., Thevenon J., Duffourd Y., Kuentz P., Carmignac V., Cormier-Daire V., Michot C., Malan V., Beaujard M. et al..  2019.  Detection of mosaic Copy-Number Variations from Whole-Exome Sequencing in mosaic pigmentation disorders using XHMM and a custom SNP approach. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:114.
Sorlin A., Tisserant E., Thevenon J., Duffourd Y., Kuentz P., Carmignac V., Cormier-Daire V., Michot C., Malan V., Beaujard M. et al..  2019.  Detection of mosaic Copy-Number Variations from Whole-Exome Sequencing in mosaic pigmentation disorders using XHMM and a custom SNP approach. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:114.
Jubin C., Uguen K., Duffourd Y., Malan V., Dupont J., Chatron N., Vitobello A., Rollat-Farnier P., Baulard C., Lelorch M. et al..  2019.  Does 10X Genomics technology improve the identification andcharacterization of structural variants? EUROPEAN JOURNAL OF HUMAN GENETICS. 27:541-542.
Jubin C., Uguen K., Duffourd Y., Malan V., Dupont J., Chatron N., Vitobello A., Rollat-Farnier P., Baulard C., Lelorch M. et al..  2019.  Does 10X Genomics technology improve the identification andcharacterization of structural variants? EUROPEAN JOURNAL OF HUMAN GENETICS. 27:541-542.
E
Piard J., Moris-Rosendahl D.J, Putoux A., Delplancq G., Cabrol C., J. Goffeney B, Pasquier L., Brischoux-Boucher E., Wollnik B., Yigit G. et al..  2019.  Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:263.
Piard J., Moris-Rosendahl D.J, Putoux A., Delplancq G., Cabrol C., J. Goffeney B, Pasquier L., Brischoux-Boucher E., Wollnik B., Yigit G. et al..  2019.  Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:263.
Wells C.F, Heide S., Charles P., Marey I., Heron D., Nava C., Courtin T., Isidor B., Piton A., Gerard B. et al..  2019.  Expanding the phenotype of CTNNB1-mutated individuals and description of the fetal phenotype. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:216-217.
Wells C.F, Heide S., Charles P., Marey I., Heron D., Nava C., Courtin T., Isidor B., Piton A., Gerard B. et al..  2019.  Expanding the phenotype of CTNNB1-mutated individuals and description of the fetal phenotype. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:216-217.
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Lefebvre M., Sanlaville D., Marle N., Thauvin-Robinet C., Gautier E., Chehadeh S.E, Mosca-Boidron A.-L, Thevenon J., Edery P., Alex-Cordier M.-P et al..  2016.  Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey. CLINICAL GENETICS. 89:630-635.
Pujol P., Van de Perre P., Faivre L., Sanlaville D., Corsini C., Baertschi B., Anahory M., Vaur D., Olschwang S., Soufir N. et al..  2019.  Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:562-563.
I
Vitobello A., Thevenon J., Callier P., Jouan T., Duplomb L., Bordessoules M., Duffourd Y., Tisserand E., Boland A., Olaso R. et al..  2019.  Integrated functional characterization of a non-coding GPC3 allele in a family with recurrent Simpson-Golabi-Behmel syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:513.
Vitobello A., Thevenon J., Callier P., Jouan T., Duplomb L., Bordessoules M., Duffourd Y., Tisserand E., Boland A., Olaso R. et al..  2019.  Integrated functional characterization of a non-coding GPC3 allele in a family with recurrent Simpson-Golabi-Behmel syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:513.
M
Smol T., Petit F., Piton A., Keren B., Sanlaville D., Afenjar A., Baker S., Bedoukian E.C, Bhoj E.J, Bonneau D. et al..  2018.  MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. NEUROGENETICS. 19:93-103.
Doco-Fenzy M., Jacquin C., Callier P., Sanlaville D., Missirian C., Kuentz P., Jaeger P., Heddar A., Lecaignec C., Poirsier C. et al..  2019.  Microdeletion 1p36 diagnostic follow-up of a cohort of 70 patients diagnosed in France. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:484.
Marle N., Martinet D., Aboura A., Joly-Helas G., Andrieux J., Flori E., Puechberty J., Vialard F., Sanlaville D., S. Ferrer F et al..  2014.  Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. CLINICAL GENETICS. 85:233-244.
Lehman N., Mazery A.C, Visier A., Baumann C., Lachesnais D., Capri Y., Toutain A., Odent S., Mikaty M., Goizet C. et al..  2017.  Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. CLINICAL GENETICS. 92:298-305.
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Verdez S., Duffourd Y., Tisserant E., Plagos A., Bruel A., F. Mau-Them T, Philippe C., Thauvin C., Faivre L., Chatron N. et al..  2020.  Reconstruction of complex genomic rearrangements with 3rd generation sequencing in rare diseases: two chromothripsis cases. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:592.
Verdez S., Duffourd Y., Tisserant E., Plagos A., Bruel A., F. Mau-Them T, Philippe C., Thauvin C., Faivre L., Chatron N. et al..  2020.  Reconstruction of complex genomic rearrangements with 3rd generation sequencing in rare diseases: two chromothripsis cases. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:592.
S
Houdayer F., Putois O., Babonneau M.L, Chaumet H., Joly L., Juif C., Michon C.C, Staraci S., Cretin E., Delanoue S. et al..  2019.  Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives. EUROPEAN JOURNAL OF MEDICAL GENETICS. 62:103711.
Houdayer F., Putois O., Staraci S., Babonneau M.L, Michon C.C, Chaumet H., Joly L., Juif C., Chassagne A., Gautier E. et al..  2019.  Secondary findings from whole exome or genome sequencing: psychological and ethical Issues. Patient point of view. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:686-687.
Houdayer F., Putois O., Staraci S., Babonneau M.L, Michon C.C, Chaumet H., Joly L., Juif C., Chassagne A., Gautier E. et al..  2019.  Secondary findings from whole exome or genome sequencing: psychological and ethical Issues. Patient point of view. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:686-687.

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