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Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 723, doi. 10.1023/A:1005544117285
By:
- Faivre, L.;
- Houssin, D.;
- Valayer, J.;
- Brouard, J.;
- Hadchouel, M.;
- Bernard, O.
Publication type:
Article
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Published in:
Clinical Genetics, 2018, v. 93, n. 4, p. 880, doi. 10.1111/cge.13196
By:
- Chiu, A. T. G.;
- Pei, S. L. C.;
- Mak, C. C. Y.;
- Leung, G. K. C.;
- Yu, M. H. C.;
- Lee, S. L.;
- Vreeburg, M.;
- Pfundt, R.;
- Van Der Burgt, I.;
- Kleefstra, T.;
- Frederic, T.M.‐t.;
- Nambot, S.;
- Faivre, L.;
- Bruel, A.‐l.;
- Rossi, M.;
- Isidor, B.;
- Küry, S.;
- Cogne, B.;
- Besnard, T.;
- Willems, M.
Publication type:
Article
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Published in:
Clinical Genetics, 2017, v. 92, n. 3, p. 298, doi. 10.1111/cge.13010
By:
- Lehman, N.;
- Mazery, A.C.;
- Visier, A.;
- Baumann, C.;
- Lachesnais, D.;
- Capri, Y.;
- Toutain, A.;
- Odent, S.;
- Mikaty, M.;
- Goizet, C.;
- Taupiac, E.;
- Jacquemont, M.L.;
- Sanchez, E.;
- Schaefer, E.;
- Gatinois, V.;
- Faivre, L.;
- Minot, D.;
- Kayirangwa, H.;
- Sang, K.‐H.L.Q.;
- Boddaert, N.
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
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 868, doi. 10.1111/cge.12885
By:
- Ranza, E.;
- Huber, C.;
- Levin, N.;
- Baujat, G.;
- Bole‐Feysot, C.;
- Nitschke, P.;
- Masson, C.;
- Alanay, Y.;
- Al‐Gazali, L.;
- Bitoun, P.;
- Boute, O.;
- Campeau, P.;
- Coubes, C.;
- McEntagart, M.;
- Elcioglu, N.;
- Faivre, L.;
- Gezdirici, A.;
- Johnson, D.;
- Mihci, E.;
- Nur, B.G.
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 mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Published in:
Clinical Genetics, 2017, v. 91, n. 1, p. 92, doi. 10.1111/cge.12793
By:
- Amos, J.S.;
- Huang, L.;
- Thevenon, J.;
- Kariminedjad, A.;
- Beaulieu, C.L.;
- Masurel‐Paulet, A.;
- Najmabadi, H.;
- Fattahi, Z.;
- Beheshtian, M.;
- Tonekaboni, S.H.;
- Tang, S.;
- Helbig, K.L.;
- Alcaraz, W.;
- Rivière, J.‐B.;
- Faivre, L.;
- Innes, A.M.;
- Lebel, R.R.;
- Boycott, K.M.
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
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720
By:
- Nizon, M.;
- Henry, M.;
- Michot, C.;
- Baumann, C.;
- Bazin, A.;
- Bessières, B.;
- Blesson, S.;
- Cordier‐Alex, M.‐P.;
- David, A.;
- Delahaye‐Duriez, A.;
- Delezoïde, A.‐L.;
- Dieux‐Coeslier, A.;
- Doco‐Fenzy, M.;
- Faivre, L.;
- Goldenberg, A.;
- Layet, V.;
- Loget, P.;
- Marlin, S.;
- Martinovic, J.;
- Odent, S.
Publication type:
Article
Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 479, doi. 10.1111/cge.12534
By:
- Vanlerberghe, C.;
- Faivre, L.;
- Petit, F.;
- Fruchart, O.;
- Jourdain, A.‐S.;
- Clavier, F.;
- Gay, S.;
- Manouvrier‐Hanu, S.;
- Escande, F.
Publication type:
Article
The revised ghent nosology; reclassifying isolated ectopia lentis.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 284, doi. 10.1111/cge.12358
By:
- Chandra, A.;
- Patel, D.;
- Aragon‐Martin, J.A.;
- Pinard, A.;
- Collod‐Béroud, G.;
- Comeglio, P.;
- Boileau, C.;
- Faivre, L.;
- Charteris, D.;
- Child, A.H.;
- Arno, G.
Publication type:
Article
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
Published in:
Clinical Genetics, 2014, v. 85, n. 5, p. 464, doi. 10.1111/cge.12219
By:
- Petit, F.;
- Jourdain, A.‐S.;
- Andrieux, J.;
- Baujat, G.;
- Baumann, C.;
- Beneteau, C.;
- David, A.;
- Faivre, L.;
- Gaillard, D.;
- Gilbert‐Dussardier, B.;
- Jouk, P.‐S.;
- Le Caignec, C.;
- Loget, P.;
- Pasquier, L.;
- Porchet, N.;
- Holder‐Espinasse, M.;
- Manouvrier‐Hanu, S.;
- Escande, F.
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
The new Ghent criteria for Marfan syndrome: what do they change?
Published in:
Clinical Genetics, 2012, v. 81, n. 5, p. 433, doi. 10.1111/j.1399-0004.2011.01703.x
By:
- Faivre, L;
- Collod-Beroud, G;
- Adès, L;
- Arbustini, E;
- Child, A;
- Callewaert, BL;
- Loeys, B;
- Binquet, C;
- Gautier, E;
- Mayer, K;
- Arslan-Kirchner, M;
- Grasso, M;
- Beroud, C;
- Hamroun, D;
- Bonithon-Kopp, C;
- Plauchu, H;
- Robinson, PN;
- De Backer, J;
- Coucke, P;
- Francke, U
Publication type:
Article
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 258, doi. 10.1111/j.1399-0004.2009.01290.x
By:
- Saal, S.;
- Faivre, L.;
- Aral, Bernard;
- Gigot, N.;
- Toutain, A.;
- Van Maldergem, L.;
- Destree, A.;
- Maystadt, I.;
- Cosyns, J.-P.;
- Jouk, P.-S.;
- Loeys, B.;
- Chauveau, D.;
- Bieth, E.;
- Layet, V.;
- Mathieu, M.;
- Lespinasse, J.;
- Teebi, A.;
- Franco, B.;
- Gautier, E.;
- Binquet, C.
Publication type:
Article
Familial hematological malignancies: ASXL1 gene investigation.
Published in:
Clinical & Translational Oncology, 2016, v. 18, n. 4, p. 385, doi. 10.1007/s12094-015-1379-7
By:
- Hamadou, W.;
- Abed, R.;
- Besbes, S.;
- Bourdon, V.;
- Fabre, A.;
- Youssef, Y.;
- Laatiri, M.;
- Eisinger, F.;
- Mari, V.;
- Gesta, P.;
- Dreyfus, H.;
- Bonadona, V.;
- Dugast, C.;
- Zattara, H.;
- Faivre, L.;
- Jemni, S.;
- Noguchi, T.;
- Khélif, A.;
- Sobol, H.;
- Soua, Z.
Publication type:
Article
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.
Published in:
BMC Health Services Research, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12913-023-09373-z
By:
- Soilly, AL;
- Robert-Viard, C;
- Besse, C;
- Bruel, AL;
- Gerard, B;
- Boland, A;
- Piton, A;
- Duffourd, Y;
- Muller, J;
- Poë, C;
- Jouan, T;
- El Doueiri, S;
- Faivre, L;
- Bacq-Daian, D;
- Isidor, B;
- Genevieve, D;
- Odent, S;
- Philip, N;
- Doco-Fenzy, M;
- Lacombe, D
Publication type:
Article
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2728, doi. 10.1002/ajmg.a.63394
By:
- Viora‐Dupont, E.;
- Denommé‐Pichon, A.;
- Chevarin, M.;
- Patat, O.;
- Willems, M.;
- Bourgon, N.;
- Bruel, A.;
- Aubert‐Mucca, M.;
- Galinier, M.;
- Itier, R.;
- Decramer, S.;
- Piton, A.;
- Gerard, B.;
- Billon, C.;
- Jeunemaitre, X.;
- Duffourd, Y.;
- Callier, P.;
- Thauvin, C.;
- Philippe, C.;
- 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 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
Effect of the ABCB1 3435C greater than T polymorphism on tacrolimus concentrations and dosage requirements in liver transplant recipients.
Published in:
2009
By:
- Bonhomme-Faivre L;
- Picard V;
- Saliba F;
- Abbara C;
- Fodil M;
- Chaunoy M;
- Farinotti R
Publication type:
Journal Article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Published in:
2000
By:
- Faivre, Laurence;
- Cormier-Daire, Valérie;
- Chrétien, Dominique;
- Christoph von Kleist-Retzow, Jürgen;
- Amiel, Jeanne;
- Dommergues, Marc;
- Saudubray, Jean-Marie;
- Dumez, Yves;
- Rötig, Agnès;
- Rustin, Pierre;
- Munnich, Arnold;
- Faivre, L;
- Cormier-Daire, V;
- Chrétien, D;
- Christoph von Kleist-Retzow, J;
- Amiel, J;
- Dommergues, M;
- Saudubray, J M;
- Dumez, Y;
- Rötig, A
Publication type:
journal article
Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature.
Published in:
Prenatal Diagnosis, 1999, v. 19, n. 3, p. 282, doi. 10.1002/(SICI)1097-0223(199903)19:3<282::AID-PD521>3.0.CO;2-8
By:
- Faivre, L.;
- Morichon-Delvallez, N.;
- Viot, G.;
- Larget-Piet, A.;
- Narcy, F.;
- Turleau, C.;
- Pinson, M. P.;
- Dumez, Y.;
- Munnich, A.;
- Vekemans, M.
Publication type:
Article
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.
Published in:
Prenatal Diagnosis, 1999, v. 19, n. 1, p. 49, doi. 10.1002/(SICI)1097-0223(199901)19:1<49::AID-PD450>3.0.CO;2-C
By:
- Faivre, L.;
- Morichon-Delvallez, N.;
- Viot, G.;
- Martinovic, J.;
- Pinson, M. P.;
- Aubry, J. P.;
- Raclin, V.;
- Edery, P.;
- Dumez, Y.;
- Munnich, A.;
- Vekemans, M.
Publication type:
Article
Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 10, p. 1055, doi. 10.1002/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I
By:
- Faivre, L.;
- Morichon-Delvallez, N.;
- Viot, G.;
- Narcy, F.;
- Loison, S.;
- Mandelbrot, L.;
- Aubry, M. C.;
- Raclin, V.;
- Edery, P.;
- Munnich, A.;
- Vekemans, M.
Publication type:
Article
LONG-TERM OUTCOME OF LIVER TRANSPLANTATION IN PATIENTS WITH GLYCOGEN STORAGE DISEASE Ia.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 1997, v. 24, n. 4, p. 485
By:
- Faivre, L.;
- Houssin, D.;
- Valayer, J.;
- Brouard, J.;
- Bernard, O.
Publication type:
Article
EP06.12: Prospective reanalysis of unsolved prenatal exome sequencing: diagnostic yield and contribution of postnatal/post‐mortem findings.
Published in:
Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 150, doi. 10.1002/uog.28185
By:
- Bourgon, N.;
- Them, F. Tran Mau;
- Safraou, H.;
- Bruel, A.;
- Denomme‐Pichon, A.;
- Vitobello, A.;
- Binquet, C.;
- Duffour, Y.;
- Faivre, L.;
- Thauvin, C.
Publication type:
Article
OP10.09: Prenatal exome sequencing: a powerful tool to improve description of prenatal features related to genetic disorders.
Published in:
Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 86, doi. 10.1002/uog.27958
By:
- Bourgon, N.;
- Them, F. Tran Mau;
- Bruel, A.;
- Safraou, H.;
- Denomme‐Pichon, A.;
- Rousseau, T.;
- Vitobello, A.;
- Philippe, C.;
- Binquet, C.;
- Duffour, Y.;
- Faivre, L.;
- Thauvin, C.
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
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 491, doi. 10.1038/ejhg.2008.207
By:
- Faivre, L.;
- Collod-Beroud, G.;
- Callewaert, B.;
- Child, A.;
- Binquet, C.;
- Gautier, E.;
- Loeys, B. .L;
- Arbustini, E.;
- Mayer, K.;
- Arslan-Kirchner, M.;
- Stheneur, C.;
- Kiotsekoglou, A.;
- Comeglio, P.;
- Marziliano, N.;
- Wolf, J. E.;
- Bouchot, O.;
- Khau-Van-Kien, P.;
- Beroud, C.;
- Claustres, M.;
- Bonithon-Kopp, C.
Publication type:
Article
Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study.
Published in:
European Journal of Endocrinology, 2015, v. 173, n. 6, p. 819, doi. 10.1530/EJE-15-0691
By:
- Thevenon, J.;
- Bourredjem, A.;
- Faivre, L.;
- Cardot-Bauters, C.;
- Calender, A.;
- Le Bras, M.;
- Giraud, S.;
- Niccoli, P.;
- Odou, M. F.;
- Borson-Chazot, F.;
- Barlier, A.;
- Lombard-Bohas, C.;
- Clauser, E.;
- Tabarin, A.;
- Pasmant, E.;
- Chabre, O.;
- Castermans, E.;
- Ruszniewski, P.;
- Bertherat, J.;
- Delemer, B.
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
Molecular study of CEPBA in familial hematological malignancies.
Published in:
Familial Cancer, 2009, v. 8, n. 4, p. 581, doi. 10.1007/s10689-009-9289-x
By:
- Abed, R.;
- Bourdon, V.;
- Huiart, L.;
- Eisinger, F.;
- Khelif, A.;
- Frenay, M.;
- Gesta, P.;
- Demange, L.;
- Dreyfus, H.;
- Bonadona, V.;
- Dugast, C.;
- Zattara, H.;
- Faivre, L.;
- Noguchi, T.;
- Sauvan, R.;
- Soua, Z.;
- Sobol, H.
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
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
Climbing for dummies: recommendation for multi‐specific fishways for the conservation of tropical eels and gobies.
Published in:
Animal Conservation, 2021, v. 24, n. 6, p. 970, doi. 10.1111/acv.12699
By:
- Lagarde, R.;
- Courret, D.;
- Grondin, H.;
- Faivre, L.;
- Ponton, D.
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

Found: 55