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1.

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF, Sanlaville D.

Mol Genet Genomic Med. 2020 Mar;8(3):e1114. doi: 10.1002/mgg3.1114. Epub 2020 Jan 27.

2.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.

Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19.

PMID:
31273809
3.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28.

PMID:
30923172
4.

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

Pierron L, Irrmann A, de Chalus A, Bloch A, Heide S, Rogers E, Lédée N, Prat-Ellenberg L, Coussement A, Dupont JM, Cassuto NG, Siffroi JP, Rouen A.

J Assist Reprod Genet. 2019 May;36(5):973-978. doi: 10.1007/s10815-019-01430-z. Epub 2019 Mar 8.

PMID:
30850901
5.

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.

Abdelhedi F, Chalas C, Petit JM, Abid N, Mokadem E, Hizem S, Kamoun H, Keskes L, Dupont JM.

J Assist Reprod Genet. 2019 Jan;36(1):69-77. doi: 10.1007/s10815-018-1342-y. Epub 2018 Oct 25.

6.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E.

J Med Genet. 2018 Oct 4. pii: jmedgenet-2018-105389. doi: 10.1136/jmedgenet-2018-105389. [Epub ahead of print]

PMID:
30287593
7.

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C; H+ Consortium.

Ultrasound Obstet Gynecol. 2019 Aug;54(2):246-254. doi: 10.1002/uog.20112.

PMID:
30191619
8.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC.

Am J Med Genet A. 2017 Aug;173(8):2081-2087. doi: 10.1002/ajmg.a.38302. Epub 2017 Jun 1.

PMID:
28573701
9.

[Analysis of prenatal follow-up strategies for trisomy 21 affected pregnancies in France].

Dupont JM, Simon-Bouy B, Zebina A, Pessione F, Royère D, Doco-Fenzy M; le groupe de Cytogénétique constitutionnelle de l’ACLF (GFCC).

Gynecol Obstet Fertil Senol. 2017 Mar;45(3):152-157. doi: 10.1016/j.gofs.2017.01.015. Epub 2017 Mar 1. French.

PMID:
28258854
10.

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.

Carmignac V, Dupont JM, Fierro RC, Barberet J, Bruno C, Lieury N, Dulioust E, Auger J, Fauque P.

Andrology. 2017 Mar;5(2):370-380. doi: 10.1111/andr.12311. Epub 2017 Feb 10.

11.

Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression.

Hervé B, Coussement A, Gilbert T, Dumont F, Jacques S, Cuisset L, Chicard M, Hizem S, Bourdoncle P, Letourneur F, Dupont C, Vialard F, Choiset A, Dupont JM.

Clin Genet. 2016 Jul;90(1):35-48. doi: 10.1111/cge.12731. Epub 2016 Mar 23.

PMID:
27283765
12.

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.

El Khattabi LA, Rouillac-Le Sciellour C, Le Tessier D, Luscan A, Coustier A, Porcher R, Bhouri R, Nectoux J, Sérazin V, Quibel T, Mandelbrot L, Tsatsaris V, Vialard F, Dupont JM.

PLoS One. 2016 May 11;11(5):e0155009. doi: 10.1371/journal.pone.0155009. eCollection 2016.

13.

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

Abdelhedi F, El Khattabi L, Essid N, Viot G, Letessier D, Lebbar A, Dupont JM.

Am J Med Genet A. 2016 Jul;170(7):1912-7. doi: 10.1002/ajmg.a.37686. Epub 2016 Apr 27.

PMID:
27119754
14.

Paradoxical Improvement of Schizophrenic Symptoms by a Dopaminergic Agonist: An Example of Personalized Psychiatry in a Copy Number Variation-Carrying Patient.

Alexandre C, Chaumette B, Martinez G, Christa L, Dupont JM, Kebir O, Gaillard R, Amado I, Krebs MO.

Biol Psychiatry. 2016 Aug 15;80(4):e21-e23. doi: 10.1016/j.biopsych.2015.09.017. Epub 2015 Oct 8. No abstract available.

PMID:
26602590
15.

Unusual isochromosome 5p marker chromosome.

Roulet-Coudrier F, Rouibi A, Thuillier C, Bourthoumieu S, Lebbar A, Dupont JM, Yardin C.

Am J Med Genet A. 2015 Feb;167A(2):455-9. doi: 10.1002/ajmg.a.36843. Epub 2014 Nov 25. No abstract available.

PMID:
25424187
16.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

17.

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Dupont C, Bucourt M, Guimiot F, Kraoua L, Smiljkovski D, Le Tessier D, Lebugle C, Gerard B, Spaggiari E, Bourdoncle P, Tabet AC, Benzacken B, Dupont JM.

Mol Cytogenet. 2014 Sep 30;7(1):59. doi: 10.1186/s13039-014-0059-6. eCollection 2014.

18.

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.

Milosevic J, El Khattabi L, Roubergue A, Coussement A, Doummar D, Cuisset L, Le Tessier D, Flageul B, Viot G, Lebbar A, Dupont JM.

Am J Med Genet A. 2014 Dec;164A(12):3180-6. doi: 10.1002/ajmg.a.36777. Epub 2014 Sep 24.

PMID:
25257167
19.

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

Abdelhedi F, El Khattabi L, Cuisset L, Tsatsaris V, Viot G, Druart L, Lebbar A, Dupont JM.

Am J Clin Pathol. 2014 Aug;142(2):248-53. doi: 10.1309/AJCPBLMPRXKU1JUE.

PMID:
25015868
20.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G.

Am J Med Genet A. 2014 Aug;164A(8):2025-8. doi: 10.1002/ajmg.a.36547. Epub 2014 Apr 8.

PMID:
24715584

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