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Items: 1 to 50 of 320

1.

Simple ions control the elasticity of calcite gels via interparticle forces.

Liberto T, Barentin C, Colombani J, Costa A, Gardini D, Bellotto M, Le Merrer M.

J Colloid Interface Sci. 2019 Jun 1;553:280-288. doi: 10.1016/j.jcis.2019.05.083. [Epub ahead of print]

PMID:
31220706
2.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V.

Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13.

PMID:
30006632
3.

Elasticity and yielding of a calcite paste: scaling laws in a dense colloidal suspension.

Liberto T, Le Merrer M, Barentin C, Bellotto M, Colombani J.

Soft Matter. 2017 Mar 8;13(10):2014-2023. doi: 10.1039/c6sm02607a.

PMID:
28198900
4.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I.

J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19.

PMID:
27193221
5.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Jul;36(5):529-530. No abstract available.

6.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8. Erratum in: J Clin Immunol. 2016 Jul;36(5):529-30.

7.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

8.

Yield stress and elasticity influence on surface tension measurements.

Jørgensen L, Le Merrer M, Delanoë-Ayari H, Barentin C.

Soft Matter. 2015 Jul 7;11(25):5111-21. doi: 10.1039/c5sm00569h.

PMID:
26037476
9.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC.

Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Review.

PMID:
25646736
10.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR.

Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21.

PMID:
25604898
11.

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V.

Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Review.

PMID:
25425167
12.

Linear and non-linear wall friction of wet foams.

Le Merrer M, Lespiat R, Höhler R, Cohen-Addad S.

Soft Matter. 2015 Jan 14;11(2):368-81. doi: 10.1039/c4sm01557f.

PMID:
25387164
13.

Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort.

Pinto G, Cormier-Daire V, Le Merrer M, Samara-Boustani D, Baujat G, Fresneau L, Viaud M, Souberbielle JC, Pineau JC, Polak M.

Horm Res Paediatr. 2014;82(6):355-63. doi: 10.1159/000364807. Epub 2014 Oct 15.

PMID:
25323764
14.

Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines.

Bousson V, Rey-Jouvin C, Laredo JD, Le Merrer M, Martin-Duverneuil N, Feydy A, Aubert S, Chapurlat R, Orcel P.

Eur J Radiol. 2014 Oct;83(10):1828-42. doi: 10.1016/j.ejrad.2014.06.012. Epub 2014 Jun 30.

PMID:
25043984
15.

New insights into genotype-phenotype correlation for GLI3 mutations.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T.

Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16.

16.

Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.

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 JC, Polak M.

Eur J Endocrinol. 2014 Jun;170(6):847-54. doi: 10.1530/EJE-14-0071. Epub 2014 Mar 24.

PMID:
24662318
17.

Laser-speckle-visibility acoustic spectroscopy in soft turbid media.

Wintzenrieth F, Cohen-Addad S, Le Merrer M, Höhler R.

Phys Rev E Stat Nonlin Soft Matter Phys. 2014 Jan;89(1):012308. Epub 2014 Jan 23.

PMID:
24580228
18.

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.

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.

Eur J Endocrinol. 2014 Apr 10;170(5):677-84. doi: 10.1530/EJE-13-0864. Print 2014 May.

PMID:
24536087
19.

Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management.

Aurégan JC, Odent T, Coyle RM, Miladi L, Wicart P, Dubousset J, Le Merrer M, Padovani JP, Glorion C.

Spine (Phila Pa 1976). 2014 Apr 20;39(9):E564-75. doi: 10.1097/BRS.0000000000000260.

PMID:
24503682
20.

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Tran Mau-Them F, Boualam A, Barat-Houari M, Jeandel C, Cottalorda J, Cormier-Daire V, Fabre A, Dumont B, Lefort G, Baujat G, Le Merrer M, Jorgensen C, Touitou I, Geneviève D.

Am J Med Genet A. 2014 Mar;164A(3):769-73. doi: 10.1002/ajmg.a.36331. Epub 2013 Dec 19.

PMID:
24357493
21.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T.

Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.

PMID:
24178751
22.

Duration of bubble rearrangements in a coarsening foam probed by time-resolved diffusing-wave spectroscopy: impact of interfacial rigidity.

Le Merrer M, Cohen-Addad S, Höhler R.

Phys Rev E Stat Nonlin Soft Matter Phys. 2013 Aug;88(2):022303. Epub 2013 Aug 9.

PMID:
24032829
23.

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

Mehawej C, Courcet JB, Baujat G, Mouy R, Gérard M, Landru I, Gosselin M, Koehrer P, Mousson C, Breton S, Quartier P, Le Merrer M, Faivre L, Cormier-Daire V.

Am J Med Genet A. 2013 Dec;161A(12):3023-9. doi: 10.1002/ajmg.a.36151. Epub 2013 Aug 16.

PMID:
23956186
24.

Finger creases lend a hand in Kabuki syndrome.

Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D.

Eur J Med Genet. 2013 Oct;56(10):556-60. doi: 10.1016/j.ejmg.2013.07.005. Epub 2013 Aug 7.

25.

Clinical utility gene card for: hypophosphatasia - update 2013.

Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M.

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.177. Epub 2013 Aug 7. No abstract available.

26.

Mucopolysaccharidosis type I and craniosynostosis.

Ziyadeh J, Le Merrer M, Robert M, Arnaud E, Valayannopoulos V, Di Rocco F.

Acta Neurochir (Wien). 2013 Oct;155(10):1973-6. doi: 10.1007/s00701-013-1831-9. Epub 2013 Aug 6.

PMID:
23917744
27.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Rivière JB.

Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27.

28.

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.

Zufferey F, Hadj-Rabia S, De Sandre-Giovannoli A, Dufier JL, Leheup B, Schweitze C, Bodemer C, Cormier-Daire V, Le Merrer M.

Am J Med Genet A. 2013 Jul;161A(7):1786-91. doi: 10.1002/ajmg.a.35984. Epub 2013 May 29.

PMID:
23720404
29.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.

Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28.

30.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.

J Pediatr. 2013 Sep;163(3):742-6. doi: 10.1016/j.jpeds.2013.02.032. Epub 2013 Mar 25.

PMID:
23535010
31.

Slicing softly with shear.

Reyssat E, Tallinen T, Le Merrer M, Mahadevan L.

Phys Rev Lett. 2012 Dec 14;109(24):244301. Epub 2012 Dec 10.

PMID:
23368324
32.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V.

J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282.

PMID:
23339108
33.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27.

34.

Buckling of viscous filaments of a fluid under compression stresses.

Le Merrer M, Quéré D, Clanet C.

Phys Rev Lett. 2012 Aug 10;109(6):064502. Epub 2012 Aug 10.

PMID:
23006271
35.

Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia.

Macé G, Sonigo P, Cormier-Daire V, Aubry MC, Martinovic J, Elie C, Gonzales M, Carbonne B, Dumez Y, Le Merrer M, Brunelle F, Benachi A.

Ultrasound Obstet Gynecol. 2013 Aug;42(2):161-8. doi: 10.1002/uog.12298. Epub 2013 Jul 14.

36.

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):205-16. doi: 10.1002/ajmg.c.31332. Epub 2012 Jul 12.

PMID:
22791362
37.

Bubble rearrangement duration in foams near the jamming point.

Le Merrer M, Cohen-Addad S, Höhler R.

Phys Rev Lett. 2012 May 4;108(18):188301. Epub 2012 May 2.

PMID:
22681122
38.

Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?

Isidor B, Poignant S, Picherot G, Mégabarné A, Quartier P, Bader-Meunier B, Le Caignec C, Le Merrer M, Baujat G, Cormier-Daire V, David A.

Am J Med Genet A. 2012 Jul;158A(7):1754-8. doi: 10.1002/ajmg.a.35424. Epub 2012 Jun 7.

PMID:
22678748
39.

Cantú syndrome is caused by mutations in ABCC9.

van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A.

Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17.

40.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V.

Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22.

41.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM.

Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.

42.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V.

J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.

PMID:
22499340
43.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.

44.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F.

Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29.

45.

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Mehawej C, Chouery E, Maalouf D, Baujat G, Le Merrer M, Cormier-Daire V, Mégarbané A.

Eur J Med Genet. 2012 Feb;55(2):103-8. doi: 10.1016/j.ejmg.2011.11.003. Epub 2011 Nov 27.

PMID:
22178368
46.

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I.

Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23.

PMID:
22045651
47.

Trapping leidenfrost drops with crenelations.

Dupeux G, Le Merrer M, Clanet C, Quéré D.

Phys Rev Lett. 2011 Sep 9;107(11):114503. Epub 2011 Sep 8.

PMID:
22026676
48.

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

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PMID:
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