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Impaired autonomic control of the heart by SOX10 mutation.
Published in:
2001
By:
- Korsch, Eckhard;
- Steinkuhle, Jutta;
- Massin, Martial;
- Lyonnet, Stanislas;
- Touraine, Renaud L.;
- Korsch, E;
- Steinkuhle, J;
- Massin, M;
- Lyonnet, S;
- Touraine, R L
Publication type:
Case Study
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.
Published in:
2000
By:
- Abadie, Véronique;
- Wiener-Vacher, Sylvette;
- Morisseau-Durand, Marie-Paule;
- Porée, Claude;
- Amiel, Jeanne;
- Amanou, Laurent;
- Peigné, Catherine;
- Lyonnet, Stanislas;
- Manac'h, Yves;
- Abadie, V;
- Wiener-Vacher, S;
- Morisseau-Durand, M P;
- Porée, C;
- Amiel, J;
- Amanou, L;
- Peigné, C;
- Lyonnet, S;
- Manac'h, Y
Publication type:
journal article
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.
Published in:
1998
By:
- Iserin, L.;
- de Lonlay, P.;
- Viot, G.;
- Sidi, D.;
- Kachaner, J.;
- Munnich, A.;
- Lyonnet, S.;
- Vekemans, M.;
- Bonnet, D.
Publication type:
journal article
The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.
Published in:
Clinical Genetics, 2018, v. 93, n. 2, p. 356, doi. 10.1111/cge.13046
By:
- Gordon, C. T.;
- Tessier, A.;
- Demir, Z.;
- Goldenberg, A.;
- Oufadem, M.;
- Voisin, N.;
- Pingault, V.;
- Bienvenu, T.;
- Lyonnet, S.;
- de Pontual, L.;
- Amiel, J.
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
A review of craniofacial disorders caused by spliceosomal defects.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 405, doi. 10.1111/cge.12596
By:
- Lehalle, D.;
- Wieczorek, D.;
- Zechi‐Ceide, R.M.;
- Passos‐Bueno, M.R.;
- Lyonnet, S.;
- Amiel, J.;
- Gordon, C.T.
Publication type:
Article
microRNAs in diseases: from candidate to modifier genes.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 306, doi. 10.1111/j.1399-0004.2010.01370.x
By:
- Bandiera, S.;
- Hatem, E.;
- Lyonnet, S.;
- Henrion-Caude, A.
Publication type:
Article
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Published in:
Clinical Genetics, 2007, v. 72, n. 2, p. 112, doi. 10.1111/j.1399-0004.2007.00821.x
By:
- Delahaye, A.;
- Sznajer, Y.;
- Lyonnet, S.;
- Elmaleh-Bergès, M.;
- Delpierre, I.;
- Audollent, S.;
- Wiener-Vacher, S.;
- Mansbach, A.-L.;
- Amiel, J.;
- Baumann, C.;
- Bremond-Gignac, D.;
- Attié-Bitach, T.;
- Verloes, A.;
- Sanlaville, D.
Publication type:
Article
An overview of isolated and syndromic oesophageal atresia.
Published in:
Clinical Genetics, 2007, v. 71, n. 5, p. 392, doi. 10.1111/j.1399-0004.2007.00798.x
By:
- Geneviève, D.;
- de Pontual, L.;
- Amiel, J.;
- Sarnacki, S.;
- Lyonnet, S.
Publication type:
Article
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
Published in:
Clinical Genetics, 2004, v. 66, n. 2, p. 122, doi. 10.1111/j.1399-0004.2004.00288.x
By:
- Borck, G.;
- Rio, M.;
- Sanlaville, D.;
- Redon, R.;
- Molinari, F.;
- Bacq, D.;
- Raoul, O.;
- Cormier-Daire, V.;
- Lyonnet, S.;
- Amiel, J.;
- Le Merrer, M.;
- de Blois, M.-C.;
- Prieur, M.;
- Vekemans, M.;
- Carter, N.P.;
- Munnich, A.;
- Colleaux, L.
Publication type:
Article
A CGH study of 27 patients with CHARGE association.
Published in:
Clinical Genetics, 2002, v. 61, n. 2, p. 135, doi. 10.1034/j.1399-0004.2002.610208.x
By:
- Sanlaville, D;
- Romana, SP;
- Lapierre, JM;
- Amiel, J;
- Genevieve, D;
- Ozilou, C;
- Le Lorch, M;
- Brisset, S;
- Gosset, P;
- Baumann, C;
- Turleau, C;
- Lyonnet, S;
- Vekemans, M
Publication type:
Article
Scalp-ear-nipple (Finlay–Marks) syndrome: a familial case with renal involvement.
Published in:
Clinical Genetics, 1999, v. 56, n. 2, p. 170, doi. 10.1034/j.1399-0004.1999.560216.x
By:
- Picard, C.;
- Couderc, S.;
- Skojaei, T.;
- Salomon, R.;
- de Lonlay, P.;
- Le Merrer, M.;
- Munnich, A.;
- Lyonnet, S.;
- Amiel, J.
Publication type:
Article
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
Published in:
Clinical Genetics, 1998, v. 53, n. 4, p. 278, doi. 10.1111/j.1399-0004.1998.tb02696.x
By:
- Viot-Szoboszlai, G.;
- Amiel, J.;
- Doz, F.;
- Prieur, M.;
- Couturier, J.;
- Zucker, JN;
- Henry, I.;
- Munnich, A.;
- Vekemans, M.;
- Lyonnet, S.
Publication type:
Article
Increased paternal age in CHARGE association.
Published in:
Clinical Genetics, 1996, v. 50, n. 6, p. 548, doi. 10.1111/j.1399-0004.1996.tb02736.x
By:
- Tellier, A.L.;
- Lyonnet, S.;
- Cormier-Daire, V.;
- Lonlay, P.;
- Abadie, V.;
- Baumann, C.;
- Bonneau, D.;
- Labrune, Ph.;
- Lacombe, D.;
- Merrer, M. Le;
- Nivelon, A.;
- Philip, N.;
- Briard, M. L.;
- Munnich, A.
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
Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report.
Published in:
Prenatal Diagnosis, 2000, v. 20, n. 2, p. 156, doi. 10.1002/(SICI)1097-0223(200002)20:2<156::AID-PD758>3.0.CO;2-J
By:
- Lohmann, L.;
- Chelloug, N.;
- Rosales, B.;
- Guérin, C.;
- Lyonnet, S.;
- Jonveaux, P.;
- Simon-Bouy, B.
Publication type:
Article
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
Published in:
1994
By:
- Chadefaux-Vekemans, B.;
- Rolland, M. O.;
- Lyonnet, S.;
- Rabier, D.;
- Divry, P.;
- Kamoun, P.
Publication type:
Case Study
First-trimester prenatal diagnosis in quintuplets: a practical approach using step-by-step embryo reduction.
Published in:
1991
By:
- Dumez, Y.;
- Dommergues, M.;
- Lyonnet, S.;
- Tada, K.;
- Kaplan, J.;
- Mandelbrot, L.
Publication type:
journal article
Early prognostic factors for intellectual outcome in CHARGE syndrome.
Published in:
Developmental Medicine & Child Neurology, 2003, v. 45, n. 7, p. 483, doi. 10.1017/S0012162203000896
By:
- MD F Raqbi;
- MD C Le Bihan;
- MD MP Morisseau-Durand;
- MD P Dureau;
- MD PhD S Lyonnet
Publication type:
Article
Early prognostic factors for intellectual outcome in CHARGE syndrome.
Published in:
2003
By:
- Raqbi, F;
- Le Bihan, C;
- Morisseau-Durand, M P;
- Dureau, P;
- Lyonnet, S;
- Abadie, V
Publication type:
journal article
CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 10, p. 5621, doi. 10.1210/jc.2004-2474
By:
- Pinto, G.;
- Abadie, V.;
- Mesnage, R.;
- Blustajn, J.;
- Cabrol, S.;
- Amiel, J.;
- Hertz-Pannier, L.;
- Bertrand, A. M.;
- Lyonnet, S.;
- Rappaport, R.;
- Netchine, I.
Publication type:
Article
C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
Published in:
1996
By:
- Caron, P;
- Attié, T;
- David, D;
- Amiel, J;
- Brousset, F;
- Roger, P;
- Munnich, A;
- Lyonnet, S
Publication type:
journal article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Published in:
2012
By:
- Valayannopoulos V;
- Michot C;
- Rodriguez D;
- Hubert L;
- Saillour Y;
- Labrune P;
- de Laveaucoupet J;
- Brunelle F;
- Amiel J;
- Lyonnet S;
- Enza-Razavi F;
- Attié-Bitach T;
- Lacombe D;
- Bahi-Buisson N;
- Desguerre I;
- Chelly J;
- Burglen L;
- Boddaert N;
- de Lonlay P
Publication type:
Journal Article
A novel autosomal recessive myopathy with external opthalmoplegia linked to chromosome 17p13.1-p12.
Published in:
2005
By:
- Lossos A;
- Baala L;
- Soffer D;
- Averbuch-Heller L;
- Dotan S;
- Munnich A;
- Lyonnet S;
- Gomori JM;
- Genem A;
- Neufeld M;
- Abramsky O;
- Zlotogora J;
- Argov Z
Publication type:
Journal Article
Vascular Wall Remodeling in Patients with Supravalvular Aortic Stenosis and Williams Beuren Syndrome.
Published in:
Journal of Vascular Research, 2005, v. 42, n. 3, p. 190, doi. 10.1159/000085141
By:
- Dridi, S. M.;
- Bertaud, A. Foucault;
- Tchen, S. Igondjo;
- Senni, K.;
- Ejeil, A. L.;
- Pellat, B.;
- Lyonnet, S.;
- Bonnet, D.;
- Charpiot, P.;
- Godeau, G.
Publication type:
Article
P0842 EARLY ONSET PTEN HAMARTOMATOUS SYNDROME.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2004, v. 39, p. S377, doi. 10.1097/00005176-200406001-00966
By:
- Ruemmele, F. M.;
- Vannerom, P.;
- Canioni, D.;
- Olschwang, S.;
- Martelli, H.;
- Brousse, N.;
- Jan, D.;
- Goulet, O.;
- Lyonnet, S.;
- Mougenot, J.
Publication type:
Article
Recombinant interferon x2a is effective in the treatment of discoid and subacute cutaneous lupus erythematosus.
Published in:
British Journal of Dermatology, 1990, v. 122, n. 3, p. 405, doi. 10.1111/j.1365-2133.1990.tb08290.x
By:
- Thivolet, J.;
- Nicolas, J.F.;
- Kanitakis, J.;
- Lyonnet, S.;
- Chouvet, B.
Publication type:
Article
Gorlin syndrome presenting as prenatal chylothorax in a girl.
Published in:
Prenatal Diagnosis, 2005, v. 25, n. 11, p. 997, doi. 10.1002/pd.1231
By:
- Geneviève, D.;
- Walter, E.;
- Gorry, P.;
- Jacquemont, M. L.;
- Dupic, L.;
- Layet, V.;
- Munnich, A.;
- Cormier-Daire, V.;
- Dommergues, M.;
- Lyonnet, S.;
- Mitanchez, D.
Publication type:
Article
Mutation update for the CSB/ ERCC6 and CSA/ ERCC8 genes involved in Cockayne syndrome.
Published in:
2010
By:
- Laugel, V.;
- Dalloz, C.;
- Durand, M.;
- Sauvanaud, F.;
- Kristensen, U.;
- Vincent, M.C.;
- Pasquier, L.;
- Odent, S.;
- Cormier-Daire, V.;
- Gener, B.;
- Tobias, E.S.;
- Tolmie, J.L.;
- Martin-Coignard, D.;
- Drouin-Garraud, V.;
- Heron, D.;
- Journel, H.;
- Raffo, E.;
- Vigneron, J.;
- Lyonnet, S.;
- Murday, V.
Publication type:
Other
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.
Published in:
2008
By:
- Crétolle, C.;
- Pelet, A.;
- Sanlaville, D.;
- Zérah, M.;
- Amiel, J.;
- Jaubert, F.;
- Révillon, Y.;
- Baala, L.;
- Munnich, A.;
- Nihoul-Fékété, C.;
- Lyonnet, S.
Publication type:
Other
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Published in:
Human Mutation, 2007, v. 28, n. 8, p. 790, doi. 10.1002/humu.20517
By:
- de Pontual, L.;
- Pelet, A.;
- Clement-Ziza, M.;
- Trochet, D.;
- Antonarakis, S.E.;
- Attie-Bitach, T.;
- Beales, P.L.;
- Blouin, J.-L.;
- Dastot-Le Moal, F.;
- Dollfus, H.;
- Goossens, M.;
- Katsanis, N.;
- Touraine, R.;
- Feingold, J.;
- Munnich, A.;
- Lyonnet, S.;
- Amiel, J.
Publication type:
Article
心脸皮肤综合症中的皮肤表现.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 1, p. e30, doi. 10.1111/bjd.17385
By:
- Bessis, D.;
- Morice‐Picard, F.;
- Bourrat, E.;
- Abadie, C.;
- Aouinti, S.;
- Baumann, C.;
- Best, M.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Chiaverini, C.;
- Coubes, C.;
- Giuliano, F.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Lyonnet, S.;
- Mallet, S.;
- Mazereeuw‐Hautier, J.;
- Miquel, J.;
- Molinari, N.
Publication type:
Article
Dermatological manifestations in cardiofaciocutaneous syndrome.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 1, p. e17, doi. 10.1111/bjd.17371
By:
- Bessis, D.;
- Morice‐Picard, F.;
- Bourrat, E.;
- Abadie, C.;
- Aouinti, S.;
- Baumann, C.;
- Best, M.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Chiaverini, C.;
- Coubes, C.;
- Giuliano, F.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Lyonnet, S.;
- Mallet, S.;
- Mazereeuw‐Hautier, J.;
- Miquel, J.;
- Molinari, N.
Publication type:
Article
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 1, p. 172, doi. 10.1111/bjd.17077
By:
- Best, M.;
- Pernet, C.;
- Bessis, D.;
- Coubes, C.;
- Pinson, L.;
- Sarda, P.;
- Geneviève, D.;
- Giuliano, F.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Lyonnet, S.;
- Mallet, S.;
- Mazereeuw‐Hautier, J.;
- Miquel, J.;
- Parfait, B.;
- Philip, N.;
- Sigaudy, S.;
- Pouvreau, N.;
- Vial, Y.
Publication type:
Article
Remission of Langerhans cell histiocytosis with thalidomide treatment.
Published in:
1993
By:
- Misery, L.;
- Larbre, B.;
- Lyonnet, S.;
- Faure, M.;
- Thivolet, J.
Publication type:
Letter
IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 1, p. 31
By:
- Abadie, V.;
- Jaruzelska, J.;
- Lyonnet, S.;
- Millasseau, P.;
- Berthelon, M.;
- Rey, F.;
- Munnich, A.;
- Rey, J.
Publication type:
Article

Found: 36