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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Published in:
Clinical Genetics, 2017, v. 92, n. 2, p. 188, doi. 10.1111/cge.12985
By:
- Nambot, S.;
- Gavrilov, D.;
- Thevenon, J.;
- Bruel, A.L.;
- Bainbridge, M.;
- Rio, M.;
- Goizet, C.;
- Rötig, A.;
- Jaeken, J.;
- Niu, N.;
- Xia, F.;
- Vital, A.;
- Houcinat, N.;
- Mochel, F.;
- Kuentz, P.;
- Lehalle, D.;
- Duffourd, Y.;
- Rivière, J.B.;
- Thauvin‐Robinet, C.;
- Beaudet, A.L.
Publication type:
Article
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 333, doi. 10.1111/cge.12794
By:
- Bruel, A.‐L.;
- Masurel‐Paulet, A.;
- Rivière, J.‐B.;
- Duffourd, Y.;
- Lehalle, D.;
- Bensignor, C.;
- Huet, F.;
- Borgnon, J.;
- Roucher, F.;
- Kuentz, P.;
- Deleuze, J.‐F.;
- Thauvin‐Robinet, C.;
- Faivre, L.;
- Thevenon, J.
Publication type:
Article
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. e1, doi. 10.1111/cge.12704
By:
- Thauvin‐Robinet, C.;
- Duplomb‐Jego, L.;
- Limoge, F.;
- Picot, D.;
- Masurel, A.;
- Terriat, B.;
- Champilou, C.;
- Minot, D.;
- St‐Onge, J.;
- Kuentz, P.;
- Duffourd, Y.;
- Thevenon, J.;
- Rivière, J.‐B.;
- Faivre, L.
Publication type:
Article
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2813, doi. 10.1002/ajmg.a.40510
By:
- Lemattre, C.;
- Thevenon, J.;
- Duffourd, Y.;
- Nambot, S.;
- Haquet, E.;
- Vuadelle, B.;
- Genevieve, D.;
- Sarda, P.;
- Bruel, A. L.;
- Kuentz, P.;
- Wells, C. F.;
- Faivre, L.;
- Willems, M.
Publication type:
Article
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway.
Published in:
Ultrasound in Obstetrics & Gynecology, 2022, v. 59, n. 4, p. 532, doi. 10.1002/uog.23715
By:
- Bourgon, N.;
- Carmignac, V.;
- Sorlin, A.;
- Duffourd, Y.;
- Philippe, C.;
- Thauvin‐Robinet, C.;
- Guibaud, L.;
- Faivre, L.;
- Vabres, P.;
- Kuentz, P.;
- Tisserand, Emilie;
- Chevarin, Martin;
- Delanne, Julian;
- Jouan, Thibaud;
- Pöe, Charlotte;
- Abel, Carine;
- Allory, Patrick;
- Amram, Daniel;
- Attie‐Bitach, Tania;
- Aziza, Jacqueline
Publication type:
Article
OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway.
Published in:
Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 52, doi. 10.1002/uog.23909
By:
- Bourgon, N.;
- Carmignac, V.;
- Sorlin, A.;
- Duffour, Y.;
- Philippe, C.;
- Thauvin, C.;
- Guibaud, L.;
- Faivre, L.;
- Vabres, P.;
- Kuentz, P.
Publication type:
Article
Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status.
Published in:
2013
By:
- Kuentz, P;
- Vanden Meerschaut, F;
- Elinati, E;
- Nasr-Esfahani, M H;
- Gurgan, T;
- Iqbal, N;
- Carré-Pigeon, F;
- Brugnon, F;
- Gitlin, S A;
- Velez de la Calle, J;
- Kilani, Z;
- De Sutter, P;
- Viville, S
Publication type:
Journal Article
Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status.
Published in:
Human Reproduction, 2013, v. 28, n. 4, p. 1054, doi. 10.1093/humrep/det005
By:
- Kuentz, P.;
- Vanden Meerschaut, F.;
- ElInati, E.;
- Nasr-Esfahani, M.H.;
- Gurgan, T.;
- Iqbal, N.;
- Carré-Pigeon, F.;
- Brugnon, F.;
- Gitlin, S.A.;
- Velez de la Calle, J.;
- Kilani, Z.;
- De Sutter, P.;
- Viville, S.
Publication type:
Article
Expanding the clinical spectrum of mosaic BRAF skin phenotypes.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 10, p. e690, doi. 10.1111/jdv.17413
By:
- Sorlin, A.;
- Carmignac, V.;
- Amiel, J.;
- Boccara, O.;
- Fraitag, S.;
- Maruani, A.;
- Theiler, M.;
- Weibel, L.;
- Duffourd, Y.;
- Philippe, C.;
- Thauvin‐Robinet, C.;
- Faivre, L.;
- Rivière, J.‐B.;
- Vabres, P.;
- Kuentz, P.
Publication type:
Article
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 10, p. 2085, doi. 10.1111/jdv.17319
By:
- Theiler, M.;
- Weibel, L.;
- Christen‐Zaech, S.;
- Carmignac, V.;
- Sorlin, A.;
- Neuhaus, K.;
- Chevarin, M.;
- Thauvin‐Robinet, C.;
- Philippe, C.;
- Faivre, L.;
- Vabres, P.;
- Kuentz, P.
Publication type:
Article
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.
Published in:
British Journal of Dermatology, 2017, v. 176, n. 1, p. 204, doi. 10.1111/bjd.14681
By:
- Kuentz, P.;
- Fraitag, S.;
- Gonzales, M.;
- Dhombres, F.;
- St ‐ Onge, J.;
- Duffourd, Y.;
- Joyé, N.;
- Jouannic, J. ‐ M.;
- Picard, A.;
- Marle, N.;
- Thevenon, J.;
- Thauvin ‐ Robinet, C.;
- Faivre, L.;
- Rivière, J. ‐ B.;
- Vabres, P.
Publication type:
Article

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