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Osteoporosis in late-diagnosed adult homocystinuric patients.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 338, doi. 10.1023/A:1005618927729
By:
- Parrot, F.;
- Redonnet-Vernhet, I.;
- Lacombe, D.;
- Gin, H.
Publication type:
Article
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.
Published in:
2000
By:
- Sigaudy, S.;
- Vittu, G.;
- David, A.;
- Vigneron, J.;
- Lacombe, D.;
- Moncla, A.;
- Flori, E.;
- Philip, N.
Publication type:
journal article
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Published in:
Clinical Genetics, 2018, v. 93, n. 2, p. 374, doi. 10.1111/cge.13074
By:
- Trimouille, A.;
- Lasseaux, E.;
- Barat, P.;
- Deiller, C.;
- Drunat, S.;
- Rooryck, C.;
- Arveiler, B.;
- Lacombe, D.
Publication type:
Article
Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 449, doi. 10.1111/cge.12977
By:
- Trimouille, A.;
- Barouk‐Simonet, E.;
- Charron, S.;
- Bouron, J.;
- Bernhard, J.‐C.;
- Lacombe, D.;
- Fergelot, P.;
- Rooryck, C.
Publication type:
Article
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Published in:
Clinical Genetics, 2014, v. 86, n. 4, p. 326, doi. 10.1111/cge.12275
By:
- Chassaing, N.;
- Causse, A.;
- Vigouroux, A.;
- Delahaye, A.;
- Alessandri, J.‐L.;
- Boespflug‐Tanguy, O.;
- Boute‐Benejean, O.;
- Dollfus, H.;
- Duban‐Bedu, B.;
- Gilbert‐Dussardier, B.;
- Giuliano, F.;
- Gonzales, M.;
- Holder‐Espinasse, M.;
- Isidor, B.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Martin‐Coignard, D.;
- Mathieu‐Dramard, M.;
- Odent, S.;
- Picone, O.
Publication type:
Article
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.
Published in:
Clinical Genetics, 2006, v. 70, n. 3, p. 207, doi. 10.1111/j.1399-0004.2006.00664.x
By:
- Reboul, M.-P.;
- Tandonnet, O.;
- Biteau, N.;
- Belet-de Putter, C.;
- Rebouissoux, L.;
- Moradkhani, K.;
- Vu, P. Y.;
- Saura, R.;
- Arveiler, B.;
- Lacombe, D.;
- Taine, L.;
- Iron, A.
Publication type:
Article
Screening ofSLC26A4(PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00296.x
By:
- Blons, H.;
- Feldmann, D.;
- Duval, V.;
- Messaz, O.;
- Denoyell, F.;
- Loundon, N.;
- Sergout-Allaoui, A.;
- Houang, M.;
- Duriez, F.;
- Lacombe, D.;
- Delobel, B.;
- Leman, J.;
- Catros, H.;
- Journel, H.;
- Drouin-Garraud, V.;
- Obstoy, M.-F.;
- Toutain, A.;
- Oden, S.;
- Toublanc, J. E.;
- Couderc, R.
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
EFFECTS OF THE CHEMOSTERILANT ORNITROL® ON THE NESTING SUCCESS OF RED-WINGED BLACKBIRDS.
Published in:
Journal of Applied Ecology, 1986, v. 23, n. 3, p. 773, doi. 10.2307/2403933
By:
- Lacombe, D.;
- Cyr, A.;
- Bergeron, J. -M.
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
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
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2714, doi. 10.1002/ajmg.a.37212
By:
- Houcinat, N.;
- Llanas, B.;
- Moutton, S.;
- Toutain, J.;
- Cailley, D.;
- Arveiler, B.;
- Combe, C.;
- Lacombe, D.;
- Rooryck, C.
Publication type:
Article
Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.
Published in:
Prenatal Diagnosis, 2002, v. 22, n. 8, p. 697, doi. 10.1002/pd.383
By:
- Gilbert, B.;
- Yardin, C.;
- Briault, S.;
- Belin, V.;
- Lienhardt, A.;
- Aubard, Y.;
- Battin, J.;
- Servaud, M.;
- Philippe, H. J.;
- Lacombe, D.
Publication type:
Article
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
Published in:
2010
By:
- Lebrun, M;
- Richard, N;
- Abeguilé, G;
- David, A;
- Coëslier Dieux, A;
- Journel, H;
- Lacombe, D;
- Pinto, G;
- Odent, S;
- Salles, J P;
- Taieb, A;
- Gandon-Laloum, S;
- Kottler, M L
Publication type:
journal article
Rectal polyps in Proteus syndrome.
Published in:
1993
By:
- Lamireau, Thierry;
- Bail, Brigitte Le;
- Sarlangue, Jean;
- Vergnes, Pierre;
- Lacombe, Didier;
- Lamireau, T;
- Le Bail, B;
- Sarlangue, J;
- Vergnes, P;
- Lacombe, D
Publication type:
Case Study
Detection of Bromacil Herbicide in Ponderosa Pine
Published in:
Bulletin of Environmental Contamination & Toxicology, 1981, v. 27, n. 2, p. 268, doi. 10.1007/BF01611019
By:
- Ferenbaugh, R. W.;
- LaCombe, D. M.;
- Spall, W. D.
Publication type:
Article
Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome.
Published in:
2018
By:
- Lacalm, A.;
- Fichez, A.;
- Broussin, B.;
- Abel, C.;
- Lacombe, D.;
- Guibaud, L.
Publication type:
Case Study
Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith-Wiedemann syndrome.
Published in:
Journal of Human Hypertension, 2002, v. 16, n. 4, p. 281
By:
- Bemurat, L.;
- Gosse, P.;
- Ballanger, P.;
- Tauzin-Fin, P.;
- Barat, P.;
- Lacombe, D.;
- Lemetayer, P.;
- Lemetayer, J.
Publication type:
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
Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum.
Published in:
Ultrasound in Obstetrics & Gynecology, 2011, v. 37, n. 3, p. 290, doi. 10.1002/uog.8882
By:
- Mangione, R.;
- Fries, N.;
- Godard, P.;
- Capron, C.;
- Mirlesse, V.;
- Lacombe, D.;
- Duyme, M.
Publication type:
Article
IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 373, doi. 10.1111/cge.13409
By:
- Brischoux‐Boucher, E.;
- Trimouille, A.;
- Baujat, G.;
- Goldenberg, A.;
- Schaefer, E.;
- Guichard, B.;
- Hannequin, P.;
- Paternoster, G.;
- Baer, S.;
- Cabrol, C.;
- Weber, E.;
- Godfrin, G.;
- Lenoir, M.;
- Lacombe, D.;
- Collet, C.;
- Van Maldergem, L.
Publication type:
Article
Prediction of early death among patients enrolled in phase I trials: development and validation of a new model based on platelet count and albumin.
Published in:
British Journal of Cancer, 2012, v. 107, n. 7, p. 1025, doi. 10.1038/bjc.2012.371
By:
- Ploquin, A;
- Olmos, D;
- Lacombe, D;
- A'Hern, R;
- Duhamel, A;
- Twelves, C;
- Marsoni, S;
- Morales-Barrera, R;
- Soria, J-C;
- Verweij, J;
- Voest, E E;
- Schöffski, P;
- Schellens, J H;
- Kramar, A;
- Kristeleit, R S;
- Arkenau, H-T;
- Kaye, S B;
- Penel, N
Publication type:
Article
PIPELINEs: Creating Comparable Clinical Knowledge Efficiently by Linking Trial Platforms.
Published in:
Clinical Pharmacology & Therapeutics, 2016, v. 100, n. 6, p. 713, doi. 10.1002/cpt.514
By:
- Trusheim, MR;
- Shrier, AA;
- Antonijevic, Z;
- Beckman, RA;
- Campbell, RK;
- Chen, C;
- Flaherty, KT;
- Loewy, J;
- Lacombe, D;
- Madhavan, S;
- Selker, HP;
- Esserman, LJ
Publication type:
Article
A phase I and pharmacokinetic study of OSI-7904L, a liposomal thymidylate synthase inhibitor in combination with oxaliplatin in patients with advanced colorectal cancer.
Published in:
Cancer Chemotherapy & Pharmacology, 2008, v. 61, n. 4, p. 579, doi. 10.1007/s00280-007-0509-5
By:
- Clamp, A.;
- Schöffski, P.;
- Valle, J.;
- Wilson, R.;
- Marreaud, S.;
- Govaerts, A.-S.;
- Debois, M.;
- Lacombe, D.;
- Twelves, C.;
- Chick, J.;
- Jayson, G.
Publication type:
Article
The effect of dietary sodium fluoride on internal organs, breast muscle, and bones in captive American kestrals (Falco sparverius)
Published in:
Archives of Environmental Contamination & Toxicology, 1992, v. 22, n. 2, p. 242
By:
- Lacombe, D.;
- Bird, D. M.;
- Carriere, D.
Publication type:
Article
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.
Published in:
European Journal of Ophthalmology, 2008, v. 18, n. 4, p. 656, doi. 10.1177/112067210801800430
By:
- Samimi, S.;
- Antignac, C.;
- Combe, C.;
- Lacombe, D.;
- Rougier, M.-B. Renaud;
- Korobelnik, J.-F.
Publication type:
Article
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.
Published in:
2006
By:
- Bonnefoy, O.;
- Delbosc, J. M.;
- Maugey-Laulom, B.;
- Lacombe, D.;
- Gaye, D.;
- Diard, F.
Publication type:
journal article
Assessment of bone response to systemic therapy in an EORTC trial: preliminary experience with the use of collagen cross-link excretion.
Published in:
British Journal of Cancer, 1999, v. 80, n. 1/2, p. 221, doi. 10.1038/sj.bjc.6690506
By:
- Vinholes, J;
- Coleman, R;
- Lacombe, D;
- Rose, C;
- Tubiana-Hulin, M;
- Bastit, P;
- Wildiers, J;
- Michel, J;
- Leonard, R;
- Nortier, J;
- Mignolet, F;
- Ford, J
Publication type:
Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Published in:
Annals of Neurology, 2000, v. 48, n. 2, p. 170, doi. 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
By:
- Bonne, G.;
- Mercuri, E.;
- Muchir, A.;
- Urtizberea, A.;
- Bécane, H. M.;
- Recan, D.;
- Merlini, L.;
- Wehnert, M.;
- Boor, R.;
- Reuner, U.;
- Vorgerd, M.;
- Wicklein, E. M.;
- Eymard, B.;
- Duboc, D.;
- Penisson-Besnier, I.;
- Cuisset, J. M.;
- Ferrer, X.;
- Desguerre, I.;
- Lacombe, D.;
- Bushby, K.
Publication type:
Article
Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis.
Published in:
Neurogenetics, 2006, v. 7, n. 1, p. 39, doi. 10.1007/s10048-005-0014-0
By:
- Poirier, K.;
- Lacombe, D.;
- Gilbert-Dussardier, B.;
- Raynaud, M.;
- Desportes, V.;
- Brouwer, A.;
- Moraine, C.;
- Fryns, J.;
- Ropers, H.;
- Beldjord, C.;
- Chelly, J.;
- Bienvenu, T.
Publication type:
Article
Phase 3 Randomized Trial on Larynx Preservation Comparing Sequential vs Alternating Chemotherapy and Radiotherapy.
Published in:
JNCI: Journal of the National Cancer Institute, 2009, v. 101, n. 3, p. 142, doi. 10.1093/jnci/djn460
By:
- Lefebvre, J. L.;
- Rolland, F.;
- Tessetaar, M.;
- Bardet, E.;
- Leemans, C. R.;
- Geoffrois, L.;
- Hupperets, P.;
- Barzan, L.;
- De Raucourt, D.;
- Chevalier, D.;
- Licitra, L.;
- Lunghi, F.;
- Stupp, R.;
- Lacombe, D.;
- Bogaerts, J.;
- Horiot, J. C.;
- Bernier, J.;
- Vermorken, J. B.
Publication type:
Article
努南综合征的皮肤病表现.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 6, p. e266, doi. 10.1111/bjd.17978
By:
- Bessis, D.;
- Miquel, J.;
- Bourrat, E.;
- Chiaverini, C.;
- Morice‐Picard, F.;
- Abadie, C.;
- Manna, F.;
- Baumann, C.;
- Best, M.;
- Blanchet, P.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Coubes, C.;
- Giuliano, F.;
- Guillaumont, S.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Jeandel, C.;
- Lacombe, D.;
- Mallet, S.
Publication type:
Article
Dermatological manifestations in Noonan syndrome.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 6, p. e249, doi. 10.1111/bjd.17961
By:
- Bessis, D.;
- Miquel, J.;
- Bourrat, E.;
- Chiaverini, C.;
- Morice‐Picard, F.;
- Abadie, C.;
- Manna, F.;
- Baumann, C.;
- Best, M.;
- Blanchet, P.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Coubes, C.;
- Giuliano, F.;
- Guillaumont, S.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Jeandel, C.;
- Lacombe, D.;
- Mallet, S.
Publication type:
Article
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 6, p. 1438, doi. 10.1111/bjd.17404
By:
- Bessis, D.;
- Miquel, J.;
- Bourrat, E.;
- Chiaverini, C.;
- Morice‐Picard, F.;
- Abadie, C.;
- Manna, F.;
- Baumann, C.;
- Best, M.;
- Blanchet, P.;
- Bursztejn, A.‐C.;
- Capri, Y.;
- Coubes, C.;
- Giuliano, F.;
- Guillaumont, S.;
- Hadj‐Rabia, S.;
- Jacquemont, M.‐L.;
- Jeandel, C.;
- Lacombe, D.;
- Mallet, S.
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
Rare genetic diseases, signalling pathways, and keloid scar formation.
Published in:
British Journal of Dermatology, 2014, v. 171, n. 3, p. 452, doi. 10.1111/bjd.13257
By:
- Lacombe, D.;
- Morice‐Picard, F.
Publication type:
Article
Severe linear form of granuloma annulare along Blaschko’s lines preceding the onset of a classical form of granuloma annulare in a child.
Published in:
2007
By:
- Morice-Picard, F.;
- Boralevi, F.;
- Lepreux, S.;
- Labrèze, C.;
- Lacombe, D.;
- Taïeb, A.
Publication type:
Letter
A review of malignancies in fragile X syndrome and report of an Ewing sarcoma.
Published in:
2008
By:
- Satgé D;
- Vérité C;
- Bui BN;
- Perel Y;
- Taine L;
- Vekemans M;
- Lacombe D
Publication type:
Journal Article

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