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Items: 1 to 20 of 178

1.

Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?

El Tannouri R, Albuisson E, Jonveaux P, Luporsi E.

Fam Cancer. 2017 May 10. doi: 10.1007/s10689-017-9999-4. [Epub ahead of print]

PMID:
28493033
2.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J.

Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23.

3.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A.

Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31.

4.

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci MJ, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R.

Orphanet J Rare Dis. 2016 Apr 26;11:49. doi: 10.1186/s13023-016-0432-0.

5.

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Moustaïne A, Ruaud L, Roth V, Jonveaux P, Philippe C.

Clin Genet. 2017 Mar;91(3):431-440. doi: 10.1111/cge.12784. Epub 2016 May 11.

PMID:
27062609
6.

GENESIS: a French national resource to study the missing heritability of breast cancer.

Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N.

BMC Cancer. 2016 Jan 12;16:13. doi: 10.1186/s12885-015-2028-9.

7.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

8.

Mutation analysis of PALB2 gene in French breast cancer families.

Damiola F, Schultz I, Barjhoux L, Sornin V, Dondon MG, Eon-Marchais S, Marcou M; GENESIS Study Investigators, Caron O, Gauthier-Villars M, de Pauw A, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard C, Pujol P, Lasset C, Longy M, Bignon YJ, Fricker JP, Andrieu N, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Muller D.

Breast Cancer Res Treat. 2015 Dec;154(3):463-71. doi: 10.1007/s10549-015-3625-7. Epub 2015 Nov 12.

PMID:
26564480
9.

Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.

Altounian L, Perrin J, Fouyssac F, Fenneteau O, Da Costa L, Bahuau M, Leheup B, Jonveaux P, Lesesve JF.

Ann Biol Clin (Paris). 2015 Sep-Oct;73(5):587-90. doi: 10.1684/abc.2015.1078.

PMID:
26489818
10.

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.

Landais E, Leroy C, Kleinfinger P, Brunet S, Koubi V, Pietrement C, Poli-Mérol ML, Fiquet C, Souchon PF, Beri M, Jonveaux P, Garnotel R, Gaillard D, Doco-Fenzy M.

Am J Med Genet A. 2015 Jun;167(6):1275-84. doi: 10.1002/ajmg.a.36995. Epub 2015 Apr 21.

PMID:
25900228
11.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.

Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T.

Eur J Hum Genet. 2016 Jan;24(1):99-105. doi: 10.1038/ejhg.2015.72. Epub 2015 Apr 15.

12.

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

Valduga M, Philippe C, Lambert L, Bach-Segura P, Schmitt E, Masutti JP, François B, Pinaud P, Vibert M, Jonveaux P.

J Hum Genet. 2015 May;60(5):267-71. doi: 10.1038/jhg.2015.17. Epub 2015 Feb 26.

PMID:
25716914
13.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

El Chehadeh S, Bonnet C, Callier P, Béri M, Dupré T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C.

JIMD Rep. 2015;20:45-55. doi: 10.1007/8904_2014_390. Epub 2015 Jan 28.

14.

Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react.

Pochon C, Oger E, Michel G, Dalle JH, Salmon A, Nelken B, Bertrand Y, Cavé H, Cayuela JM, Grardel N, Macintyre E, Margueritte G, Méchinaud F, Rohrlich P, Paillard C, Demeocq F, Schneider P, Plantaz D, Poirée M, Eliaou JF, Semana G, Drunat S, Jonveaux P, Bordigoni P, Gandemer V.

Br J Haematol. 2015 Apr;169(2):249-61. doi: 10.1111/bjh.13272. Epub 2014 Dec 19.

PMID:
25522886
15.

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C.

J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19.

PMID:
25411445
16.

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M.

Hum Mol Genet. 2015 Jan 15;24(2):463-70. doi: 10.1093/hmg/ddu461. Epub 2014 Sep 8.

PMID:
25205112
17.

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

Piard J, Mignot B, Arbez-Gindre F, Aubert D, Morel Y, Roze V, McElreavy K, Jonveaux P, Valduga M, Van Maldergem L.

Am J Med Genet A. 2014 Oct;164A(10):2618-22. doi: 10.1002/ajmg.a.36662. Epub 2014 Jun 26.

PMID:
24975717
18.

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

Natiq A, Elalaoui SC, Miesch S, Bonnet C, Jonveaux P, Amzazi S, Sefiani A.

Mol Cytogenet. 2014 Jun 5;7:40. doi: 10.1186/1755-8166-7-40. eCollection 2014.

19.

[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].

Collet A, Chatelin J, Agopiantz M, Valduga M, Bonnet C, Allou L, Lambert L, Gospodaru RN, Weryha G, Jonveaux P.

Ann Biol Clin (Paris). 2014 May-Jun;72(3):371-7. doi: 10.1684/abc.2014.0954. French.

20.

No chromosome arm unturned: in memory of Roland Berger 1934-2012.

Harrison CJ, Rowley JD, Van den Berghe H, Bernheim A, Martineau M, Gautier M, Le Coniat-Busson M, Romana S, Dastugue N, Hagemeijer A, Jonveaux P, Nguyen-Khac F, Bernard OA.

Leukemia. 2014 Feb;28(2):464-9: discussion 469. doi: 10.1038/leu.2013.340. No abstract available.

PMID:
24496283

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