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Items: 1 to 50 of 53

1.

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia.

Erkilic N, Gatinois V, Torriano S, Bouret P, Sanjurjo-Soriano C, Luca V, Damodar K, Cereso N, Puechberty J, Sanchez-Alcudia R, Hamel CP, Ayuso C, Meunier I, Pellestor F, Kalatzis V.

Cells. 2019 Sep 11;8(9). pii: E1068. doi: 10.3390/cells8091068.

2.

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard JB, Ragon C, Perez MJ, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J.

Mol Genet Genomic Med. 2019 Nov;7(11):e00895. doi: 10.1002/mgg3.895. Epub 2019 Sep 7.

3.

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group.

J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26.

4.

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.

Yauy K, Schneider A, Ng BL, Gaillard JB, Sati S, Coubes C, Wells C, Tournaire M, Guignard T, Bouret P, Geneviève D, Puechberty J, Pellestor F, Gatinois V.

BMC Med Genomics. 2019 Aug 2;12(1):116. doi: 10.1186/s12920-019-0558-8.

5.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

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.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

6.

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
7.

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
8.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.

Hureaux M, Guterman S, Hervé B, Till M, Jaillard S, Redon S, Valduga M, Coutton C, Missirian C, Prieur F, Simon-Bouy B, Beneteau C, Kuentz P, Rooryck C, Gruchy N, Marle N, Plutino M, Tosca L, Dupont C, Puechberty J, Schluth-Bolard C, Salomon L, Sanlaville D, Malan V, Vialard F.

Prenat Diagn. 2019 May;39(6):464-470. doi: 10.1002/pd.5449. Epub 2019 Apr 29.

PMID:
30896039
9.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ.

Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.

10.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

Guissart C, Tran Mau Them F, Debant V, Viart V, Dubucs C, Pritchard V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Khau Van Kien P, Brechard MP, Raynal C, Girardet A, Claustres M, Koenig M, Vincent MC.

Fetal Diagn Ther. 2019;45(6):403-412. doi: 10.1159/000489776. Epub 2018 Aug 17.

PMID:
30121677
11.

Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.

Yauy K, Gatinois V, Guignard T, Sati S, Puechberty J, Gaillard JB, Schneider A, Pellestor F.

Methods Mol Biol. 2018;1769:353-361. doi: 10.1007/978-1-4939-7780-2_22.

PMID:
29564835
12.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R.

Mod Pathol. 2018 Jul;31(7):1116-1130. doi: 10.1038/s41379-018-0031-9. Epub 2018 Feb 20.

13.

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

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.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

14.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C.

Eur J Hum Genet. 2018 Jan;26(1):143-148. doi: 10.1038/s41431-017-0018-x. Epub 2017 Nov 29.

15.

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

Guissart C, Dubucs C, Raynal C, Girardet A, Tran Mau Them F, Debant V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Dupin Deguine D, Khau Van Kien P, Brechard MP, Pritchard V, Koenig M, Claustres M, Vincent MC.

J Cyst Fibros. 2017 Mar;16(2):198-206. doi: 10.1016/j.jcf.2016.12.011. Epub 2016 Dec 28.

16.

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D.

Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13.

PMID:
27965258
17.

Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.

Schneider A, Puechberty J, Ng BL, Coubes C, Gatinois V, Tournaire M, Girard M, Dumont B, Bouret P, Magnetto J, Baghdadli A, Pellestor F, Geneviève D.

Am J Med Genet A. 2015 Dec;167A(12):3031-7. doi: 10.1002/ajmg.a.37350. Epub 2015 Sep 3.

PMID:
26333717
18.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C.

Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Erratum in: Genet Med. 2015 Aug;17(8):686. Szaskon, Kateline [corrected to Szakszon, Kateline].

PMID:
25790162
19.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.

Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14.

PMID:
25596525
20.

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

Pellestor F, Gatinois V, Puechberty J, Geneviève D, Lefort G.

Fertil Steril. 2014 Dec;102(6):1785-96. doi: 10.1016/j.fertnstert.2014.09.006. Epub 2014 Oct 18. Review.

PMID:
25439810
21.

Discordant sex in monozygotic XXY/XX twins: a case report.

Tachon G, Lefort G, Puechberty J, Schneider A, Jeandel C, Boulot P, Prodhomme O, Meyer P, Taviaux S, Touitou I, Pellestor F, Geneviève D, Gatinois V.

Hum Reprod. 2014 Dec;29(12):2814-20. doi: 10.1093/humrep/deu275. Epub 2014 Oct 21.

PMID:
25336706
22.

[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements].

Pellestor F, Gatinois V, Puechberty J, Geneviève D, Lefort G.

Med Sci (Paris). 2014 Mar;30(3):266-73. doi: 10.1051/medsci/20143003014. Epub 2014 Mar 31. Review. French.

23.

[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability].

Gatinois V, Puechberty J, Lefort G, Geneviève D, Pellestor F.

Med Sci (Paris). 2014 Jan;30(1):55-63. doi: 10.1051/medsci/20143001014. Epub 2014 Jan 24. Review. French.

24.

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, Quarantotti V, Collet C, Schneider A, Sarda P, Geneviève D, Puechberty J, Lefort G, Musio A.

Am J Med Genet A. 2014 Jan;164A(1):177-81. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20.

PMID:
24259107
25.

Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis.

Bhatt SS, Manvelyan M, Moradkhani K, Hunstig F, Mrasek K, Puechberty J, Lefort G, Sarda P, Weise A, Liehr T, Pellestor F.

Cytogenet Genome Res. 2014;142(2):145-9. doi: 10.1159/000356142. Epub 2013 Nov 6. No abstract available.

PMID:
24217531
26.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Doco-Fenzy M, Leroy C, Schneider A, Petit F, Delrue MA, Andrieux J, Perrin-Sabourin L, Landais E, Aboura A, Puechberty J, Girard M, Tournaire M, Sanchez E, Rooryck C, Ameil A, Goossens M, Jonveaux P, Lefort G, Taine L, Cailley D, Gaillard D, Leheup B, Sarda P, Geneviève D.

Eur J Hum Genet. 2014 Apr;22(4):471-9. doi: 10.1038/ejhg.2013.189. Epub 2013 Oct 16.

27.

Congenital linear streaks on the face and neck and microphthalmia in an infant girl.

Kluger N, Bouissou A, Tauzin L, Puechberty J, Dereure O.

Acta Derm Venereol. 2014 May;94(3):342-3. doi: 10.2340/00015555-1688. No abstract available.

28.

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.

Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D.

Eur J Hum Genet. 2014 Jan;22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22.

29.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D.

Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15.

30.

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, Schneider A, Girard M, Edery P, Bretonnes P, Cottalorda J, Lefort G, Jeandel C, Sarda P, Genevieve D.

Eur J Hum Genet. 2014 Jan;22(1):136-9. doi: 10.1038/ejhg.2013.56. Epub 2013 Apr 10.

31.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.

Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5.

PMID:
23489061
32.

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Geneviève D.

Eur J Hum Genet. 2012 May;20(5):580-3. doi: 10.1038/ejhg.2011.243. Epub 2012 Jan 18.

33.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.

Mosca AL, Pinson L, Andrieux J, Copin H, Bigi N, Puechberty J, Sarda P, Receveur A, Sevestre H, Pigeonnat S, Marle N, Payet M, Ragon C, Rousseau T, Thauvin-Robinet C, Masurel-Paulet A, Schneider A, Laurent N, Sagot P, Mugneret F, Lefort G, Faivre L, Callier P.

Prenat Diagn. 2011 Sep;31(9):912-4. doi: 10.1002/pd.2793. Epub 2011 Jun 27. No abstract available.

PMID:
21706508
34.

Complex chromosomal rearrangements: origin and meiotic behavior.

Pellestor F, Anahory T, Lefort G, Puechberty J, Liehr T, Hédon B, Sarda P.

Hum Reprod Update. 2011 Jul-Aug;17(4):476-94. doi: 10.1093/humupd/dmr010. Epub 2011 Apr 11. Review.

PMID:
21486858
35.

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.

Pellestor F, Puechberty J, Weise A, Lefort G, Anahory T, Liehr T, Sarda P.

Fertil Steril. 2011 Jun;95(7):2433.e17-22. doi: 10.1016/j.fertnstert.2011.01.159. Epub 2011 Mar 2.

PMID:
21367411
36.
37.

Global analysis of DNA methylation and transcription of human repetitive sequences.

Horard B, Eymery A, Fourel G, Vassetzky N, Puechberty J, Roizes G, Lebrigand K, Barbry P, Laugraud A, Gautier C, Simon EB, Devaux F, Magdinier F, Vourc'h C, Gilson E.

Epigenetics. 2009 Jul 1;4(5):339-50. Epub 2009 Jul 17.

38.

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.

Puechberty J, Rittore C, Philibert L, Lefort G, Burlet G, Bénos P, Reyftmann L, Sarda P, Touitou I.

Clin Genet. 2009 Mar;75(3):298-300. doi: 10.1111/j.1399-0004.2008.01098.x. Epub 2008 Nov 20. No abstract available.

PMID:
19054016
39.

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.

Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Manvelyan M, Hunstig F, Lefort G, Weise A, Lespinasse J, Sarda P, Liehr T, Hamamah S, Pellestor F.

Eur J Hum Genet. 2009 Jan;17(1):44-50. doi: 10.1038/ejhg.2008.144. Epub 2008 Aug 6.

40.

Prader-Willi syndrome: is there a recognizable fetal phenotype?

Bigi N, Faure JM, Coubes C, Puechberty J, Lefort G, Sarda P, Blanchet P.

Prenat Diagn. 2008 Sep;28(9):796-9. doi: 10.1002/pd.1973.

PMID:
18661490
41.

Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm.

Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Lefort G, Lespinasse J, Sarda P, Liehr T, Hamamah S, Pellestor F.

Mol Hum Reprod. 2007 Oct;13(10):751-6. Epub 2007 Oct 3.

PMID:
17913851
42.
43.

Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms.

Moradkhani K, Puechberty J, Blanchet P, Coubes C, Lallaoui H, Lewin P, Lefort G, Sarda P.

Prenat Diagn. 2006 Dec;26(12):1179-82.

PMID:
17075795
44.

Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: a case report.

Moradkhani K, Puechberty J, Bhatt S, Lespinasse J, Vago P, Lefort G, Sarda P, Hamamah S, Pellestor F.

Hum Reprod. 2006 Dec;21(12):3193-8. Epub 2006 Aug 17.

PMID:
16917122
45.

Analysis of sperm aneuploidy by PRINS.

Pellestor F, Andréo B, Puechberty J, Lefort G, Sarda P.

Methods Mol Biol. 2006;334:49-59.

PMID:
16861752
46.

Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases.

Moradkhani K, Puechberty J, Bhatt S, Vago P, Janny L, Lefort G, Hamamah S, Sarda P, Pellestor F.

Hum Reprod. 2006 May;21(5):1166-71. Epub 2006 Jan 26.

PMID:
16439506
47.

Centromeres and neocentromeres.

Roizés G, Grunau C, Buard J, De Sario A, Puechberty J.

Methods Mol Biol. 2004;240:77-104. No abstract available.

PMID:
14970406
49.

Genetic and physical analyses of the centromeric and pericentromeric regions of human chromosome 5: recombination across 5cen.

Puechberty J, Laurent AM, Gimenez S, Billault A, Brun-Laurent ME, Calenda A, Marçais B, Prades C, Ioannou P, Yurov Y, Roizès G.

Genomics. 1999 Mar 15;56(3):274-87.

PMID:
10087194
50.

Informative genetic polymorphic markers within the centromeric regions of human chromosomes 17 (D17S2205) and 11 (D11S4975).

Laurent AM, Puechberty J, Prades C, Roizès G.

Genomics. 1998 Sep 1;52(2):166-72.

PMID:
9782082

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