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Items: 13

1.

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.

Beaumont M, Tucker EJ, Mary L, Launay E, Lurton Y, Pimentel C, Rollier P, Akloul L, Beneteau C, Chevallier-Bordeau S, Neyroud AS, Pichon O, Ravel C, Odent S, Belaud-Rotureau MA, Jaillard S.

Cytogenet Genome Res. 2019 Dec 20. doi: 10.1159/000504820. [Epub ahead of print]

PMID:
31865337
2.

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.

Jaillard S, Sreenivasan R, Beaumont M, Robevska G, Dubourg C, Knarston IM, Akloul L, van den Bergen J, Odent S, Croft B, Jouve G, Grover SR, Duros S, Pimentel C, Belaud-Rotureau MA, Ayers KL, Ravel C, Tucker EJ, Sinclair AH.

Maturitas. 2020 Jan;131:78-86. doi: 10.1016/j.maturitas.2019.10.011. Epub 2019 Nov 9.

PMID:
31787151
3.

Evaluation of the template letter regarding the disclosure of genetic information within the family in France.

Zordan C, Monteil L, Haquet E, Cordier C, Toussaint E, Roche P, Dorian V, Maillard A, Lhomme E, Richert L, Pasquier L, Akloul L, Taris N, Lacombe D.

J Community Genet. 2019 Oct;10(4):489-499. doi: 10.1007/s12687-019-00418-7. Epub 2019 Mar 27.

4.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.

Beaumont M, Akloul L, Carré W, Quélin C, Journel H, Pasquier L, Fradin M, Odent S, Hamdi-Rozé H, Watrin E, Dupé V, Dubourg C, David V.

Hum Genet. 2019 Apr;138(4):363-374. doi: 10.1007/s00439-019-01993-y. Epub 2019 Mar 5.

PMID:
30838450
5.

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V.

Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290.

6.

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.

Jaillard S, Tucker EJ, Akloul L, Beaumont M, Domin M, Pasquier L, Jouve G, Odent S, Belaud-Rotureau MA, Ravel C.

J Hum Genet. 2018 May;63(5):691-698. doi: 10.1038/s10038-018-0433-z. Epub 2018 Mar 14.

PMID:
29540854
7.

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.

Jaillard S, Akloul L, Beaumont M, Hamdi-Roze H, Dubourg C, Odent S, Duros S, Dejucq-Rainsford N, Belaud-Rotureau MA, Ravel C.

J Ovarian Res. 2016 Oct 3;9(1):63.

8.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V.

Hum Mutat. 2016 Dec;37(12):1329-1339. doi: 10.1002/humu.23038. Epub 2016 Aug 23.

9.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Mouden C, Dubourg C, Carré W, Rose S, Quelin C, Akloul L, Hamdi-Rozé H, Viot G, Salhi H, Darnault P, Odent S, Dupé V, David V.

Clin Genet. 2016 Jun;89(6):659-68. doi: 10.1111/cge.12722. Epub 2016 Feb 16.

10.

Karyotype is not dead (yet)!

Pasquier L, Fradin M, Chérot E, Martin-Coignard D, Colin E, Journel H, Demurger F, Akloul L, Quélin C, Jauffret V, Lucas J, Belaud-Rotureau MA, Odent S, Jaillard S.

Eur J Med Genet. 2016 Jan;59(1):11-5. doi: 10.1016/j.ejmg.2015.11.016. Epub 2015 Dec 10.

PMID:
26691665
11.

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Mouden C, de Tayrac M, Dubourg C, Rose S, Carré W, Hamdi-Rozé H, Babron MC, Akloul L, Héron-Longe B, Odent S, Dupé V, Giet R, David V.

PLoS One. 2015 Feb 6;10(2):e0117418. doi: 10.1371/journal.pone.0117418. eCollection 2015.

12.

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion.

Blanchard M, Dubourg C, Pasquier L, Odent S, Lucas J, Quélin C, Launay E, Akloul L, Henry C, Belaud-Rotureau MA, Dugay F, Jaillard S.

Eur J Med Genet. 2014 Apr;57(5):195-9. doi: 10.1016/j.ejmg.2013.12.010. Epub 2014 Jan 31.

PMID:
24486987
13.

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.

Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.

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