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A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

NPJ genomic medicine

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.
PMID: 29263841
NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017.

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from a deletion of the distal part of...

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Tabet AC, Rolland T, Ducloy M, et al. A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ Genom Med. 2017;2:32doi: 10.1038/s41525-017-0035-2.
Tabet, A. C., Rolland, T., Ducloy, M., Lévy, J., Buratti, J., Mathieu, A., Haye, D., Perrin, L., Dupont, C., Passemard, S., Capri, Y., Verloes, A., Drunat, S., Keren, B., Mignot, C., Marey, I., Jacquette, A., Whalen, S., Pipiras, E., Benzacken, B., Chantot-Bastaraud, S., Afenjar, A., Héron, D., Le Caignec, C., Beneteau, C., Pichon, O., Isidor, B., David, A., El Khattabi, L., Kemeny, S., Gouas, L., Vago, P., Mosca-Boidron, A. L., Faivre, L., Missirian, C., Philip, N., Sanlaville, D., Edery, P., Satre, V., Coutton, C., Devillard, F., Dieterich, K., Vuillaume, M. L., Rooryck, C., Lacombe, D., Pinson, L., Gatinois, V., Puechberty, J., Chiesa, J., Lespinasse, J., Dubourg, C., Quelin, C., Fradin, M., Journel, H., Toutain, A., Martin, D., Benmansour, A., Leblond, C. S., Toro, R., Amsellem, F., Delorme, R., & Bourgeron, T. (2017). A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ genomic medicine, 232. https://doi.org/10.1038/s41525-017-0035-2
Tabet, Anne-Claude, et al. "A framework to identify contributing genes in patients with Phelan-McDermid syndrome." NPJ genomic medicine vol. 2 (2017): 32. doi: https://doi.org/10.1038/s41525-017-0035-2
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. PMID: 29263841; PMCID: PMC5677962.
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Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia

Jourdy Y, Bardel C, Fretigny M, Diguet F, Rollat-Farnier PA, Mathieu ML, Labalme A, Sanlaville D, Edery P, Vinciguerra C, Schluth-Bolard C.
PMID: 34480810
Haemophilia. 2021 Sep 04; doi: 10.1111/hae.14402. Epub 2021 Sep 04.

INTRODUCTION: Depending on the location of insertion of the gained region, F8 duplications can have variable clinical impacts from benign impact to severe haemophilia A phenotype.AIM: To characterize two large Xq28 duplications involving F8 incidentally detected by chromosome microarray...

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Jourdy Y, Bardel C, Fretigny M, et al. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Haemophilia. 2021;doi: 10.1111/hae.14402.
Jourdy, Y., Bardel, C., Fretigny, M., Diguet, F., Rollat-Farnier, P. A., Mathieu, M. L., Labalme, A., Sanlaville, D., Edery, P., Vinciguerra, C., & Schluth-Bolard, C. (2021). Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia, . https://doi.org/10.1111/hae.14402
Jourdy, Yohann, et al. "Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A." Haemophilia : the official journal of the World Federation of Hemophilia vol. (2021). doi: https://doi.org/10.1111/hae.14402
Jourdy Y, Bardel C, Fretigny M, Diguet F, Rollat-Farnier PA, Mathieu ML, Labalme A, Sanlaville D, Edery P, Vinciguerra C, Schluth-Bolard C. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Haemophilia. 2021 Sep 04; doi: 10.1111/hae.14402. Epub 2021 Sep 04. PMID: 34480810.
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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Clinical genetics

Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, Heide S.
PMID: 34866188
Clin Genet. 2021 Dec 05; doi: 10.1111/cge.14096. Epub 2021 Dec 05.

Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay and intellectual disability (ID),...

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Vibert R, Mignot C, Keren B, et al. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum. Clin Genet. 2021;doi: 10.1111/cge.14096.
Vibert, R., Mignot, C., Keren, B., Chantot-Bastaraud, S., Portnoï, M. F., Nouguès, M. C., Moutard, M. L., Faudet, A., Whalen, S., Haye, D., Garel, C., Chatron, N., Rossi, M., Vincent-Delorme, C., Boute, O., Delobel, B., Andrieux, J., Devillard, F., Coutton, C., Puechberty, J., Pebrel-Richard, C., Colson, C., Gerard, M., Missirian, C., Sigaudy, S., Busa, T., Doco-Fenzy, M., Malan, V., Rio, M., Doray, B., Sanlaville, D., Siffroi, J. P., Héron, D., & Heide, S. (2021). Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum. Clinical genetics, . https://doi.org/10.1111/cge.14096
Vibert, Roseline, et al. "Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum." Clinical genetics vol. (2021). doi: https://doi.org/10.1111/cge.14096
Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, Heide S. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum. Clin Genet. 2021 Dec 05; doi: 10.1111/cge.14096. Epub 2021 Dec 05. PMID: 34866188.
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Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Molecular biology and evolution

Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A.
PMID: 34464971
Mol Biol Evol. 2021 Dec 09;38(12):5576-5587. doi: 10.1093/molbev/msab244.

Human centromeres are mainly composed of alpha satellite DNA hierarchically organized as higher-order repeats (HORs). Alpha satellite dynamics is shown by sequence homogenization in centromeric arrays and by its transfer to other centromeric locations, for example, during the maturation...

Cite
Giannuzzi G, Logsdon GA, Chatron N, et al. Alpha Satellite Insertion Close to an Ancestral Centromeric Region. Mol Biol Evol. 2021;38(12):5576-5587doi: 10.1093/molbev/msab244.
Giannuzzi, G., Logsdon, G. A., Chatron, N., Miller, D. E., Reversat, J., Munson, K. M., Hoekzema, K., Bonnet-Dupeyron, M. N., Rollat-Farnier, P. A., Baker, C. A., Sanlaville, D., Eichler, E. E., Schluth-Bolard, C., & Reymond, A. (2021). Alpha Satellite Insertion Close to an Ancestral Centromeric Region. Molecular biology and evolution, 38(12), 5576-5587. https://doi.org/10.1093/molbev/msab244
Giannuzzi, Giuliana, et al. "Alpha Satellite Insertion Close to an Ancestral Centromeric Region." Molecular biology and evolution vol. 38,12 (2021): 5576-5587. doi: https://doi.org/10.1093/molbev/msab244
Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. Alpha Satellite Insertion Close to an Ancestral Centromeric Region. Mol Biol Evol. 2021 Dec 09;38(12):5576-5587. doi: 10.1093/molbev/msab244. PMID: 34464971; PMCID: PMC8662618.
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Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia

Jourdy Y, Bardel C, Fretigny M, Diguet F, Rollat-Farnier PA, Mathieu ML, Labalme A, Sanlaville D, Edery P, Vinciguerra C, Schluth-Bolard C.
PMID: 34480810
Haemophilia. 2022 Jan;28(1):117-124. doi: 10.1111/hae.14402. Epub 2021 Sep 04.

INTRODUCTION: Depending on the location of insertion of the gained region, F8 duplications can have variable clinical impacts from benign impact to severe haemophilia A phenotype.AIM: To characterize two large Xq28 duplications involving F8 incidentally detected by chromosome microarray...

Cite
Jourdy Y, Bardel C, Fretigny M, et al. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Haemophilia. 2021;28(1):117-124doi: 10.1111/hae.14402.
Jourdy, Y., Bardel, C., Fretigny, M., Diguet, F., Rollat-Farnier, P. A., Mathieu, M. L., Labalme, A., Sanlaville, D., Edery, P., Vinciguerra, C., & Schluth-Bolard, C. (2022). Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia, 28(1), 117-124. https://doi.org/10.1111/hae.14402
Jourdy, Yohann, et al. "Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A." Haemophilia : the official journal of the World Federation of Hemophilia vol. 28,1 (2022): 117-124. doi: https://doi.org/10.1111/hae.14402
Jourdy Y, Bardel C, Fretigny M, Diguet F, Rollat-Farnier PA, Mathieu ML, Labalme A, Sanlaville D, Edery P, Vinciguerra C, Schluth-Bolard C. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Haemophilia. 2022 Jan;28(1):117-124. doi: 10.1111/hae.14402. Epub 2021 Sep 04. PMID: 34480810.
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Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders.

Molecular human reproduction

Yammine T, Reynaud N, Lejeune H, Diguet F, Rollat-Farnier PA, Labalme A, Plotton I, Farra C, Sanlaville D, Chouery E, Schluth-Bolard C.
PMID: 34009290
Mol Hum Reprod. 2021 May 29;27(6). doi: 10.1093/molehr/gaab034.

Male infertility affects about 7% of the general male population. Balanced structural chromosomal rearrangements are observed in 0.4-1.4% of infertile males and are considered as a well-established cause of infertility. However, underlying pathophysiological mechanisms still need to be clarified....

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Yammine T, Reynaud N, Lejeune H, et al. Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders. Mol Hum Reprod. 2021;27(6)doi: 10.1093/molehr/gaab034.
Yammine, T., Reynaud, N., Lejeune, H., Diguet, F., Rollat-Farnier, P. A., Labalme, A., Plotton, I., Farra, C., Sanlaville, D., Chouery, E., & Schluth-Bolard, C. (2021). Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders. Molecular human reproduction, 27(6), . https://doi.org/10.1093/molehr/gaab034
Yammine, T, et al. "Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders." Molecular human reproduction vol. 27,6 (2021). doi: https://doi.org/10.1093/molehr/gaab034
Yammine T, Reynaud N, Lejeune H, Diguet F, Rollat-Farnier PA, Labalme A, Plotton I, Farra C, Sanlaville D, Chouery E, Schluth-Bolard C. Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders. Mol Hum Reprod. 2021 May 29;27(6). doi: 10.1093/molehr/gaab034. PMID: 34009290.
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Regulatory T cells promote cancer immune-escape through integrin αvβ8-mediated TGF-β activation.

Nature communications

Lainé A, Labiad O, Hernandez-Vargas H, This S, Sanlaville A, Léon S, Dalle S, Sheppard D, Travis MA, Paidassi H, Marie JC.
PMID: 34711823
Nat Commun. 2021 Oct 28;12(1):6228. doi: 10.1038/s41467-021-26352-2.

Presence of TGFβ in the tumor microenvironment is one of the most relevant cancer immune-escape mechanisms. TGFβ is secreted in an inactive form, and its activation within the tumor may depend on different cell types and mechanisms than its...

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Lainé A, Labiad O, Hernandez-Vargas H, et al. Regulatory T cells promote cancer immune-escape through integrin αvβ8-mediated TGF-β activation. Nat Commun. 2021;12(1):6228doi: 10.1038/s41467-021-26352-2.
Lainé, A., Labiad, O., Hernandez-Vargas, H., This, S., Sanlaville, A., Léon, S., Dalle, S., Sheppard, D., Travis, M. A., Paidassi, H., & Marie, J. C. (2021). Regulatory T cells promote cancer immune-escape through integrin αvβ8-mediated TGF-β activation. Nature communications, 12(1), 6228. https://doi.org/10.1038/s41467-021-26352-2
Lainé, Alexandra, et al. "Regulatory T cells promote cancer immune-escape through integrin αvβ8-mediated TGF-β activation." Nature communications vol. 12,1 (2021): 6228. doi: https://doi.org/10.1038/s41467-021-26352-2
Lainé A, Labiad O, Hernandez-Vargas H, This S, Sanlaville A, Léon S, Dalle S, Sheppard D, Travis MA, Paidassi H, Marie JC. Regulatory T cells promote cancer immune-escape through integrin αvβ8-mediated TGF-β activation. Nat Commun. 2021 Oct 28;12(1):6228. doi: 10.1038/s41467-021-26352-2. PMID: 34711823; PMCID: PMC8553942.
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Pulse transit time as a diagnostic test for OSA in children with Down syndrome.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Ioan I, Weick D, Sevin F, Sanlaville D, De Fréminville B, Schweitzer C, Akkari M, Coutier L, Putois B, Thieux M, Franco P.
PMID: 34170228
J Clin Sleep Med. 2022 Jan 01;18(1):119-128. doi: 10.5664/jcsm.9510.

STUDY OBJECTIVES: Children with Down syndrome (DS) are at risk of obstructive sleep apnea (OSA), but the access to sleep lab polysomnography (PSG) is limited. Simplified techniques are needed, such as polygraphy coupled with pulse transit time (PTT-PG) that...

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Ioan I, Weick D, Sevin F, et al. Pulse transit time as a diagnostic test for OSA in children with Down syndrome. J Clin Sleep Med. 2022;18(1):119-128doi: 10.5664/jcsm.9510.
Ioan, I., Weick, D., Sevin, F., Sanlaville, D., De Fréminville, B., Schweitzer, C., Akkari, M., Coutier, L., Putois, B., Thieux, M., & Franco, P. (2022). Pulse transit time as a diagnostic test for OSA in children with Down syndrome. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, 18(1), 119-128. https://doi.org/10.5664/jcsm.9510
Ioan, Iulia, et al. "Pulse transit time as a diagnostic test for OSA in children with Down syndrome." Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine vol. 18,1 (2022): 119-128. doi: https://doi.org/10.5664/jcsm.9510
Ioan I, Weick D, Sevin F, Sanlaville D, De Fréminville B, Schweitzer C, Akkari M, Coutier L, Putois B, Thieux M, Franco P. Pulse transit time as a diagnostic test for OSA in children with Down syndrome. J Clin Sleep Med. 2022 Jan 01;18(1):119-128. doi: 10.5664/jcsm.9510. PMID: 34170228.
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Type 1 conventional dendritic cells and interferons are required for spontaneous CD4.

Clinical & translational immunology

Mattiuz R, Brousse C, Ambrosini M, Cancel JC, Bessou G, Mussard J, Sanlaville A, Caux C, Bendriss-Vermare N, Valladeau-Guilemond J, Dalod M, Crozat K.
PMID: 34277006
Clin Transl Immunology. 2021 Jul 14;10(7):e1305. doi: 10.1002/cti2.1305. eCollection 2021.

OBJECTIVES: To better understand how immune responses may be harnessed against breast cancer, we investigated which immune cell types and signalling pathways are required for spontaneous control of a mouse model of mammary adenocarcinoma.METHODS: The NOP23 mammary adenocarcinoma cell...

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Mattiuz R, Brousse C, Ambrosini M, et al. Type 1 conventional dendritic cells and interferons are required for spontaneous CD4. Clin Transl Immunology. 2021;10(7):e1305doi: 10.1002/cti2.1305.
Mattiuz, R., Brousse, C., Ambrosini, M., Cancel, J. C., Bessou, G., Mussard, J., Sanlaville, A., Caux, C., Bendriss-Vermare, N., Valladeau-Guilemond, J., Dalod, M., & Crozat, K. (2021). Type 1 conventional dendritic cells and interferons are required for spontaneous CD4. Clinical & translational immunology, 10(7), e1305. https://doi.org/10.1002/cti2.1305
Mattiuz, Raphaël, et al. "Type 1 conventional dendritic cells and interferons are required for spontaneous CD4." Clinical & translational immunology vol. 10,7 (2021): e1305. doi: https://doi.org/10.1002/cti2.1305
Mattiuz R, Brousse C, Ambrosini M, Cancel JC, Bessou G, Mussard J, Sanlaville A, Caux C, Bendriss-Vermare N, Valladeau-Guilemond J, Dalod M, Crozat K. Type 1 conventional dendritic cells and interferons are required for spontaneous CD4. Clin Transl Immunology. 2021 Jul 14;10(7):e1305. doi: 10.1002/cti2.1305. eCollection 2021. PMID: 34277006; PMCID: PMC8279130.
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Prenatal diagnosis

Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V.
PMID: 34894355
Prenat Diagn. 2021 Dec 11; doi: 10.1002/pd.6074. Epub 2021 Dec 11.

OBJECTIVE: Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed in patients harboring pathogenic variants in the DLL1 gene. Our study...

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Lesieur-Sebellin M, Till M, Khau Van Kien P, et al. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenat Diagn. 2021;doi: 10.1002/pd.6074.
Lesieur-Sebellin, M., Till, M., Khau Van Kien, P., Herve, B., Bourgon, N., Dupont, C., Tabet, A. C., Barrois, M., Coussement, A., Loeuillet, L., Mousty, E., Ea, V., El Assal, A., Mary, L., Jaillard, S., Beneteau, C., Le Vaillant, C., Coutton, C., Devillard, F., Goumy, C., Delabaere, A., Redon, S., Laurent, Y., Lamouroux, A., Massardier, J., Turleau, C., Sanlaville, D., Cantagrel, V., Sonigo, P., Vialard, F., Salomon, L. J., & Malan, V. (2021). Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenatal diagnosis, . https://doi.org/10.1002/pd.6074
Lesieur-Sebellin, Marion, et al. "Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series." Prenatal diagnosis vol. (2021). doi: https://doi.org/10.1002/pd.6074
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenat Diagn. 2021 Dec 11; doi: 10.1002/pd.6074. Epub 2021 Dec 11. PMID: 34894355.
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Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Molecular biology and evolution

Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A.
PMID: 34464971
Mol Biol Evol. 2021 Dec 09;38(12):5576-5587. doi: 10.1093/molbev/msab244.

Human centromeres are mainly composed of alpha satellite DNA hierarchically organized as higher-order repeats (HORs). Alpha satellite dynamics is shown by sequence homogenization in centromeric arrays and by its transfer to other centromeric locations, for example, during the maturation...

Cite
Giannuzzi G, Logsdon GA, Chatron N, et al. Alpha Satellite Insertion Close to an Ancestral Centromeric Region. Mol Biol Evol. 2021;38(12):5576-5587doi: 10.1093/molbev/msab244.
Giannuzzi, G., Logsdon, G. A., Chatron, N., Miller, D. E., Reversat, J., Munson, K. M., Hoekzema, K., Bonnet-Dupeyron, M. N., Rollat-Farnier, P. A., Baker, C. A., Sanlaville, D., Eichler, E. E., Schluth-Bolard, C., & Reymond, A. (2021). Alpha Satellite Insertion Close to an Ancestral Centromeric Region. Molecular biology and evolution, 38(12), 5576-5587. https://doi.org/10.1093/molbev/msab244
Giannuzzi, Giuliana, et al. "Alpha Satellite Insertion Close to an Ancestral Centromeric Region." Molecular biology and evolution vol. 38,12 (2021): 5576-5587. doi: https://doi.org/10.1093/molbev/msab244
Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. Alpha Satellite Insertion Close to an Ancestral Centromeric Region. Mol Biol Evol. 2021 Dec 09;38(12):5576-5587. doi: 10.1093/molbev/msab244. PMID: 34464971; PMCID: PMC8662618.
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Prenatal diagnosis

Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V.
PMID: 34894355
Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11.

OBJECTIVE: Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed in patients harboring pathogenic variants in the DLL1 gene. Our study...

Cite
Lesieur-Sebellin M, Till M, Khau Van Kien P, et al. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenat Diagn. 2021;42(1):118-135doi: 10.1002/pd.6074.
Lesieur-Sebellin, M., Till, M., Khau Van Kien, P., Herve, B., Bourgon, N., Dupont, C., Tabet, A. C., Barrois, M., Coussement, A., Loeuillet, L., Mousty, E., Ea, V., El Assal, A., Mary, L., Jaillard, S., Beneteau, C., Le Vaillant, C., Coutton, C., Devillard, F., Goumy, C., Delabaere, A., Redon, S., Laurent, Y., Lamouroux, A., Massardier, J., Turleau, C., Sanlaville, D., Cantagrel, V., Sonigo, P., Vialard, F., Salomon, L. J., & Malan, V. (2022). Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenatal diagnosis, 42(1), 118-135. https://doi.org/10.1002/pd.6074
Lesieur-Sebellin, Marion, et al. "Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series." Prenatal diagnosis vol. 42,1 (2022): 118-135. doi: https://doi.org/10.1002/pd.6074
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. PMID: 34894355.
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