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Holes and cracks in rigid foam films.
Published in:
Journal of Fluid Mechanics, 2015, v. 774, p. N.PAG, doi. 10.1017/jfm.2015.278
By:
- Petit, P. C.;
- Le Merrer, M.;
- Biance, A.-L.
Publication type:
Article
Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy.
Published in:
2000
By:
- Castelnau, Pierre;
- Le Merrer, Martine;
- Diatloff-Zito, Catherine;
- Marquis, Eve;
- Tête, Marie-Joseph;
- Robert, Jean-Jacques;
- Castelnau, P;
- Le Merrer, M;
- Diatloff-Zito, C;
- Marquis, E;
- Tête, M J;
- Robert, J J
Publication type:
Case Study
Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 266, doi. 10.1111/j.1399-0004.2009.01314.x
By:
- Jung, C.;
- Dagoneau, N.;
- Baujat, G.;
- Le Merrer, M.;
- David, A.;
- Di Rocco, M.;
- Hamel, B.;
- Mégarban, A.;
- Superti-Furga, A.;
- Unger, S.;
- Munnich, A.;
- Cormier-Daire, V.
Publication type:
Article
Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.
Published in:
2005
By:
- Gonzales, M.;
- Heuertz, S.;
- Martinovic, J.;
- Delahaye, S.;
- Bazin, A.;
- Loget, P.;
- Pasquier, L.;
- Le Merrer, M.;
- Bonaventure, J.
Publication type:
Letter
New insights in congenital bowing of the femora.
Published in:
Clinical Genetics, 2004, v. 66, n. 3, p. 169, doi. 10.1111/j.0009-9163.2004.00307.x
By:
- Cormier-Daire, V.;
- Geneviève, D.;
- Munnich, A.;
- Le Merrer, M.
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
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).
Published in:
Clinical Genetics, 2000, v. 58, n. 4, p. 291, doi. 10.1034/j.1399-0004.2000.580407.x
By:
- Xu, M-Q;
- Feldman1,, G;
- Le Merrer, M;
- Shugart, YY;
- Glaser, DL;
- Urtizberea, JA;
- Fardeau, M;
- Connor, JM;
- Triffitt, J;
- Smith, R;
- Shore, EM;
- Kaplan, FS
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
Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome.
Published in:
Clinical Genetics, 1997, v. 52, n. 4, p. 231, doi. 10.1111/j.1399-0004.1997.tb02553.x
By:
- Plessis, G.;
- Treust, M. Le;
- Merrer, M. Le
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
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
Published in:
Acta Paediatrica, 1996, v. 85, n. 417, p. 33, doi. 10.1111/j.1651-2227.1996.tb14291.x
By:
- Bonaventure, J;
- Rousseau, F;
- Legeai-Mallet, L;
- Merrer, M Le;
- Munnich, A;
- Maroteaux, P
Publication type:
Article
A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 9, p. 3052, doi. 10.1210/jc.84.9.3052
By:
- SCHIPANI, E.;
- LANGMAN, C.;
- HUNZELMAN, J.;
- MERRER, M. LE;
- LOKE, K. Y.;
- DILLON, M. J.;
- SILVE, C.;
- JÜPPNER, H.
Publication type:
Article
Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia.
Published in:
1999
By:
- Heinz-Erian, Peter;
- Schmidt, Heinrich;
- Le Merrer, Martine;
- Phillips, Alan D.;
- Kiess, Wieland;
- Hadorn, Hans-Beat;
- Heinz-Erian, P;
- Schmidt, H;
- Le Merrer, M;
- Phillips, A D;
- Kiess, W;
- Hadorn, H B
Publication type:
journal article
Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia.
Published in:
Ultrasound in Obstetrics & Gynecology, 2013, v. 42, n. 2, p. 161, doi. 10.1002/uog.12298
By:
- Macé, G.;
- Sonigo, P.;
- Cormier‐Daire, V.;
- Aubry, M.‐C.;
- Martinovic, J.;
- Elie, C.;
- Gonzales, M.;
- Carbonne, B.;
- Dumez, Y.;
- Le Merrer, M.;
- Brunelle, F.;
- Benachi, A.
Publication type:
Article
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Published in:
European Journal of Human Genetics, 1998, v. 6, n. 4, p. 308, doi. 10.1038/sj.ejhg.5200190
By:
- Mornet, E;
- Taillandier, A;
- Peyramaure, S;
- Kaper, F;
- Muller, F;
- Brenner, R;
- Bussière, P;
- Freisinger, P;
- Godard, J;
- Le Merrer, M;
- Oury, J F;
- Plauchu, H;
- Puddu, R;
- Rival, J M;
- Superti-Furga, A;
- Touraine, R L;
- Serre, J L;
- Simon-Bouy, B
Publication type:
Article
Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.
Published in:
European Journal of Endocrinology, 2014, v. 170, n. 6, p. 847, doi. 10.1530/EJE-14-0071
By:
- Teissier, R.;
- Flechtner, I.;
- Colmenares, A.;
- Lambot-Juhan, K.;
- Baujat, G.;
- Pauwels, C.;
- Samara-Boustani, D.;
- Beltrand, J.;
- Simon, A.;
- Thalassinos, C.;
- Crosnier, H.;
- Latrech, H.;
- Pinto, G.;
- Le Merrer, M.;
- Cormier-Daire, V.;
- Souberbielle, J. C.;
- Polak, M.
Publication type:
Article
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.
Published in:
European Journal of Endocrinology, 2014, v. 170, n. 5, p. 677, doi. 10.1530/EJE-13-0864
By:
- Flechtner, I.;
- Lambot-Juhan, K.;
- Teissier, R.;
- Colmenares, A.;
- Baujat, G.;
- Beltrand, J.;
- Ajaltouni, Z.;
- Pauwels, C.;
- Pinto, G.;
- Samara-Boustani, D.;
- Simon, A.;
- Thalassinos, C.;
- Le Merrer, M.;
- Cormier-Daire, V.;
- Polak, M.
Publication type:
Article
Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.
Published in:
2009
By:
- Benaicha, A.;
- Dommergues, M.;
- Jouannic, J. M.;
- Jacquette, A.;
- Alexandre, M.;
- Le Merrer, M.;
- Le Pointe, H. Ducou;
- Garel, C.
Publication type:
Case Study
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
Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images.
Published in:
2007
By:
- Sinico, M.;
- Levaillant, J. M.;
- Vergnaud, A.;
- Blondeau, J. R.;
- Encha-Razavi, F.;
- Mornet, E.;
- Le Merrer, M.;
- Gerard-Blanluet, M.
Publication type:
journal article
Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?
Published in:
2002
By:
- Mahieu-Caputo, D.;
- Salomon, L.J.;
- Dommergues, M.;
- Aubry, M.C.;
- Sonigo, P.;
- Martinovic, Y.;
- Le Merrer, M.;
- Dumez, Y.;
- Encha-Razavi, F.
Publication type:
journal article
Level-set simulations of a 2D topological rearrangement in a bubble assembly: effects of surfactant properties.
Published in:
Journal of Fluid Mechanics, 2018, v. 838, p. 222, doi. 10.1017/jfm.2017.887
By:
- Titta, A.;
- Merrer, M. Le;
- Detcheverry, F.;
- Spelt, P. D. M.;
- Biance, A.-L.
Publication type:
Article
Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1).
Published in:
Human Molecular Genetics, 1996, v. 5, n. 4, p. 509, doi. 10.1093/hmg/5.4.509
By:
- Rousseau, F.;
- El Ghouzzi, V.;
- Delezoide, A. L.;
- Legeai-Mallet, L.;
- Le Merrer, M.;
- Munnich, A.;
- Bonaventure, J.
Publication type:
Article

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