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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 variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 908, doi. 10.1111/cge.12918
By:
- Lefebvre, M.;
- Duffourd, Y.;
- Jouan, T.;
- Poe, C.;
- Jean‐Marçais, N.;
- Verloes, A.;
- St‐Onge, J.;
- Riviere, J.‐B.;
- Petit, F.;
- Pierquin, G.;
- Demeer, B.;
- Callier, P.;
- Thauvin‐Robinet, C.;
- Faivre, L.;
- Thevenon, J.
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
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 509, doi. 10.1111/cge.12785
By:
- Thevenon, J.;
- Duplomb, L.;
- Phadke, S.;
- Eguether, T.;
- Saunier, A.;
- Avila, M.;
- Carmignac, V.;
- Bruel, A.‐L.;
- St‐Onge, J.;
- Duffourd, Y.;
- Pazour, G.J.;
- Franco, B.;
- Attie‐Bitach, T.;
- Masurel‐Paulet, A.;
- Rivière, J.‐B.;
- Cormier‐Daire, V.;
- Philippe, C.;
- Faivre, L.;
- Thauvin‐Robinet, C.
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
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Published in:
Clinical Genetics, 2016, v. 89, n. 6, p. 700, doi. 10.1111/cge.12732
By:
- Thevenon, J.;
- Duffourd, Y.;
- Masurel‐Paulet, A.;
- Lefebvre, M.;
- Feillet, F.;
- El Chehadeh‐Djebbar, S.;
- St‐Onge, J.;
- Steinmetz, A.;
- Huet, F.;
- Chouchane, M.;
- Darmency‐Stamboul, V.;
- Callier, P.;
- Thauvin‐Robinet, C.;
- Faivre, L.;
- Rivière, J.B.
Publication type:
Article
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 630, doi. 10.1111/cge.12696
By:
- Lefebvre, M.;
- Sanlaville, D.;
- Marle, N.;
- Thauvin‐Robinet, C.;
- Gautier, E.;
- Chehadeh, S.E.;
- Mosca‐Boidron, A.‐L.;
- Thevenon, J.;
- Edery, P.;
- Alex‐Cordier, M.‐P.;
- Till, M.;
- Lyonnet, S.;
- Cormier‐Daire, V.;
- Amiel, J.;
- Philippe, A.;
- Romana, S.;
- Malan, V.;
- Afenjar, A.;
- Marlin, S.;
- Chantot‐Bastaraud, S.
Publication type:
Article
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Published in:
Clinical Genetics, 2013, v. 84, n. 1, p. 86, doi. 10.1111/cge.12013
By:
- Thauvin‐Robinet, C;
- Thomas, S;
- Sinico, M;
- Aral, B;
- Burglen, L;
- Gigot, N;
- Dollfus, H;
- Rossignol, S;
- Raynaud, M;
- Philippe, C;
- Badens, C;
- Touraine, R;
- Gomes, C;
- Franco, B;
- Lopez, E;
- Elkhartoufi, N;
- Faivre, L;
- Munnich, A;
- Boddaert, N;
- Maldergem, L Van
Publication type:
Article
What can we learn from old microdeletion syndromes using array-CGH screening?
Published in:
Clinical Genetics, 2012, v. 82, n. 1, p. 41, doi. 10.1111/j.1399-0004.2011.01747.x
By:
- Mosca-Boidron, A L;
- Bouquillon, S;
- Faivre, L;
- Callier, P;
- Andrieux, J;
- Marle, N;
- Bonnet, C;
- Vincent-Delorme, C;
- Berri, M;
- Plessis, G;
- Manouvrier-Hanu, S;
- Dieux-Coeslier, A;
- Thauvin-Robinet, C;
- Pipiras, E;
- Delahaye, A;
- Payet, M;
- Ragon, C;
- Masurel-Paulet, A;
- Questiaux, E;
- Benzacken, B
Publication type:
Article
Delineation of 15q13.3 microdeletions.
Published in:
Clinical Genetics, 2010, v. 78, n. 2, p. 149, doi. 10.1111/j.1399-0004.2010.01374.x
By:
- Masurel-Paulet, A.;
- Andrieux, J.;
- Callier, P.;
- Cuisset, J. M.;
- Le Caignec, C.;
- Holder, M.;
- Thauvin-Robinet, C.;
- Doray, B.;
- Flori, E.;
- Alex-Cordier, M. P.;
- Beri, M.;
- Boute, O.;
- Delobel, B.;
- Dieux, A.;
- Vallee, L.;
- Jaillard, S.;
- Odent, S.;
- Isidor, B.;
- Beneteau, C.;
- Vigneron, J.
Publication type:
Article
Re-focusing on Agnathia-Otocephaly complex.
Published in:
Clinical Oral Investigations, 2021, v. 25, n. 3, p. 1353, doi. 10.1007/s00784-020-03443-w
By:
- Dubucs, C.;
- Chassaing, N.;
- Sergi, C.;
- Aubert-Mucca, M.;
- Attié-Bitach, T.;
- Lacombe, D.;
- Thauvin-Robinet, C.;
- Arpin, S.;
- Perez, M. J.;
- Cabrol, C.;
- Chen, C. P.;
- Aziza, J.;
- Colin, E.;
- Martinovic, J.;
- Calvas, P.;
- Plaisancié, Julie
Publication type:
Article
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1587, doi. 10.1002/ajmg.a.36898
By:
- Bourchany, A.;
- Giurgea, I.;
- Thevenon, J.;
- Goldenberg, A.;
- Morin, G.;
- Bremond‐Gignac, D.;
- Paillot, C.;
- Lafontaine, P. O.;
- Thouvenin, D.;
- Massy, J.;
- Duncombe, A.;
- Thauvin‐Robinet, C.;
- Masurel‐Paulet, A.;
- Chehadeh, S. El;
- Huet, F.;
- Bron, A.;
- Creuzot‐Garcher, C.;
- Lyonnet, S.;
- Faivre, L.
Publication type:
Article
Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1735, doi. 10.1002/ajmg.a.35402
By:
- Thauvin-Robinet, C.;
- Drunat, S.;
- Saugier Veber, P.;
- Chantereau, D.;
- Cossée, M.;
- Cassini, C.;
- Soichot, P.;
- Masurel-Paulet, A.;
- De Monléon, J.V.;
- Sagot, P.;
- Huet, F.;
- Antin, M.;
- Calmels, N.;
- Faivre, L.;
- Gérard, B.
Publication type:
Article
Exposure to hydroxyurea during pregnancy: a case series.
Published in:
2001
By:
- Thauvin-Robinet, C;
- Maingueneau, C;
- Robert, E;
- Elefant, E;
- Guy, H;
- Caillot, D;
- Casasnovas, RO;
- Douvier, S;
- Nivelon-Chevallier, A;
- Casasnovas, R O
Publication type:
Letter
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
Association of Marian's Syndrome and Turner's Syndrome.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 9, p. 1661, doi. 10.1515/jpem.2001.14.9.1661
By:
- Thauvin-Robinet, C.;
- De Monieon, J. V.;
- Nivelon-Chevallier, A.;
- Petit, A.;
- Huet, F.
Publication type:
Article
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Published in:
2018
By:
- Bruel, A.‐l.;
- Thevenon, J.;
- Huet, F.;
- Jean‐marcais, N.;
- Odent, S.;
- Dubourg, C.;
- Lehalle, D.;
- Tran Mau‐them, F.;
- Philippe, C.;
- Moutton, S.;
- Houcinat, N.;
- Gay, S.;
- Guibaud, L.;
- Duffourd, Y.;
- Rivière, J.‐b.;
- Faivre, L.;
- Thauvin‐robinet, C.
Publication type:
Case Study
Truncating variants of the <italic>DLG4</italic> gene are responsible for intellectual disability with marfanoid features.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1172, doi. 10.1111/cge.13243
By:
- Moutton, S.;
- Bruel, A.‐L.;
- Assoum, M.;
- Chevarin, M.;
- Sarrazin, E.;
- Goizet, C.;
- Guerrot, A.‐M.;
- Charollais, A.;
- Charles, P.;
- Heron, D.;
- Faudet, A.;
- Houcinat, N.;
- Vitobello, A.;
- Tran‐Mau‐Them, F.;
- Philippe, C.;
- Duffourd, Y.;
- Thauvin‐Robinet, C.;
- Faivre, L.
Publication type:
Article
<italic>INTU</italic>‐related oral‐facial‐digital syndrome type VI: A confirmatory report.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1205, doi. 10.1111/cge.13238
By:
- Bruel, A.‐L.;
- Levy, J.;
- Elenga, N.;
- Defo, A.;
- Favre, A.;
- Lucron, H.;
- Capri, Y.;
- Perrin, L.;
- Passemard, S.;
- Vial, Y.;
- Tabet, A.‐C.;
- Faivre, L.;
- Thauvin‐Robinet, C.;
- Verloes, A.
Publication type:
Article
Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition.
Published in:
Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 700, doi. 10.1023/B:BOLI.0000043017.90837.93
By:
- Thauvin-Robinet, C.;
- Faivre, L.;
- Barbier, M.;
- Chevret, L.;
- Bourgeois, J.;
- Netter, J.;
- Grimaldi, M.;
- Geneviève, D.;
- Ogier de Baulny, H.;
- Huet, F.;
- Saudubray, J.;
- Gouyon, J.
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
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2031, doi. 10.1002/ajmg.a.34105
By:
- Mosca, A.L.;
- Callier, P.;
- Faivre, L.;
- Laurent, N.;
- Rousseau, T.;
- Marle, N.;
- Payet, M.;
- Guy, H.;
- Couvreur, S.;
- Masurel-Paulet, A.;
- Sagot, P.;
- Thauvin-Robinet, C.;
- Mugneret, F.
Publication type:
Article
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Published in:
Prenatal Diagnosis, 2012, v. 32, n. 13, p. 1318, doi. 10.1002/pd.4008
By:
- Coron, F.;
- Rousseau, T.;
- Jondeau, G.;
- Gautier, E.;
- Binquet, C.;
- Gouya, L.;
- Cusin, V.;
- Odent, S.;
- Dulac, Y.;
- Plauchu, H.;
- Collignon, P.;
- Delrue, M.-A.;
- Leheup, B.;
- Joly, L.;
- Huet, F.;
- Thevenon, J.;
- Mace, G.;
- Cassini, C.;
- Thauvin-Robinet, C.;
- Wolf, J. E.
Publication type:
Article
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.
Published in:
Prenatal Diagnosis, 2011, v. 31, n. 9, p. 912, doi. 10.1002/pd.2793
By:
- Mosca, A. L.;
- 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.
Publication type:
Article
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20.
Published in:
Prenatal Diagnosis, 2009, v. 29, n. 10, p. 1002, doi. 10.1002/pd.2333
By:
- Callier, P.;
- Faivre, L.;
- Pigeonnat, S.;
- Quilichini, B.;
- Marle, N.;
- Thauvin-Robinet, C.;
- Mosca, A. L.;
- Masurel-Paulet, A.;
- Rousseau, T.;
- Sagot, P.;
- Laurent, N.;
- Mugneret, F.
Publication type:
Article
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)
Published in:
2009
By:
- Darmency V;
- Thauvin-Robinet C;
- Rousseau T;
- Mejean N;
- Charra S;
- Coron F;
- Cassini C;
- Huet F;
- Le Merrer M;
- Cormier-Daire V;
- Laurent N;
- Sagot P;
- Faivre L
Publication type:
Journal Article
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.
Published in:
Prenatal Diagnosis, 2007, v. 27, n. 6, p. 555, doi. 10.1002/pd.1724
By:
- Thauvin-Robinet, C.;
- Callier, P.;
- Laurent, N.;
- Rousseau, T.;
- Masurel-Paulet, A.;
- Marle, N.;
- Huet, F.;
- Sagot, P.;
- Faivre, L.;
- Mugneret, F.
Publication type:
Article
GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
Published in:
Human Mutation, 2011, v. 32, n. 11, p. 1332, doi. 10.1002/humu.21570
By:
- Avila, M.;
- Gigot, N.;
- Aral, B.;
- Callier, P.;
- Gautier, E.;
- Thevenon, J.;
- Pasquier, L.;
- Lopez, E.;
- Gueneau, L.;
- Duplomb, L.;
- Goldenberg, A.;
- Baumann, C.;
- Cormier, V.;
- Marlin, S.;
- Masurel-Paulet, A.;
- Huet, F.;
- Attié-Bitach, T.;
- Faivre, L.;
- Thauvin-Robinet, C.
Publication type:
Article
Infantile systemic hyalinosis: a case with atypical prolonged survival.
Published in:
2001
By:
- Thauvin-Robinet, C;
- Faivre, L;
- Beer, F;
- Justrabo, E;
- Nivelon-Chevallier, A;
- Huer, F
Publication type:
Case Study
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
X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism.
Published in:
2005
By:
- Thauvin-Robinet, C.;
- Lambert, D.;
- Vaillant, G.;
- Caillier, P.;
- Donzel, A.;
- Cusin, V.;
- Huet, F.;
- Teyssier, J . -R.;
- Mugneret, F.;
- Faivre, L.
Publication type:
Letter

Found: 32