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1. Colleaux, L; Rio, M; Heuertz, S; Moindrault, S; Turleau, C; Ozilou, C; Gosset, P; Raoult, O; Lyonnet, S; Cormier-Daire, V; Amiel, J; Le Merrer, M; Picq, M; de Blois, MC; Prieur, M; Romana, S; Cornelis, F; Vekemans, M; Munnich, A
   A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
   EUROPEAN JOURNAL OF HUMAN GENETICS
   
   L. Colleaux et al., "A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation", EUR J HUM G, 9(5), 2001, pp. 319-327
2. Faivre, L; Cormier-Daire, V; Genevieve, D; Pinto, G; Goulet, O; Munnich, A; Maroteaux, P; Le Merrer, M
   A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia
   CLINICAL DYSMORPHOLOGY
   
   L. Faivre et al., "A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia", CLIN DYSMOR, 10(3), 2001, pp. 181-184
3. Amiel, J; Faivre, L; Marianowskl, R; Bonnet, D; Couly, G; Manach, Y; Le Merrer, M; Cormier-Daire, V; Munnich, A; Lyonnet, S
   Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases
   CLINICAL DYSMORPHOLOGY
   
   J. Amiel et al., "Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases", CLIN DYSMOR, 10(1), 2001, pp. 15-18
4. Francannet, C; Cohen-Tanugi, A; Le Merrer, M; Munnich, A; Bonaventure, J; Legeai-Mallet, L
   Genotype-phenotype correlation in hereditary multiple exostoses
   JOURNAL OF MEDICAL GENETICS
   
   C. Francannet et al., "Genotype-phenotype correlation in hereditary multiple exostoses", J MED GENET, 38(7), 2001, pp. 430-434
5. Huber, C; Cusin, V; Le Merrer, M; Mathieu, M; Sulmont, V; Dagoneau, N; Munnich, A; Cormier-Daire, V
   SHOX point mutations in dyschondrosteosis
   JOURNAL OF MEDICAL GENETICS
   
   C. Huber et al., "SHOX point mutations in dyschondrosteosis", J MED GENET, 38(5), 2001, pp. 323-323
6. Huber, C; Odent, S; Rumeur, S; Padovani, P; Penet, C; Cormier-Daire, V; Munnich, A; Le Merrer, M
   Sulphate transporter gene mutations in apparently isolated club foot
   JOURNAL OF MEDICAL GENETICS
   
   C. Huber et al., "Sulphate transporter gene mutations in apparently isolated club foot", J MED GENET, 38(3), 2001, pp. 191-192
7. Faivre, L; Le Merrer, M; Baumann, C; Polak, M; Chatelain, P; Sulmont, V; Cousin, J; Bost, M; Cordier, MP; Zackai, E; Russell, K; Finidori, G; Pouliquen, JC; Munnich, A; Maroteaux, P; Cormier-Daire, V
   Acromicric dysplasia: long term outcome and evidence of autosomal dominantinheritance
   JOURNAL OF MEDICAL GENETICS
   
   L. Faivre et al., "Acromicric dysplasia: long term outcome and evidence of autosomal dominantinheritance", J MED GENET, 38(11), 2001, pp. 745-749
8. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
   A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
   JOURNAL OF MEDICAL GENETICS
   
   P. de Lonlay et al., "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases", J MED GENET, 38(1), 2001, pp. 14-19
9. Amiel, J; Espinosa-Parrilla, Y; Steffann, J; Gosset, P; Pelet, A; Prieur, M; Boute, O; Choiset, A; Lacombe, D; Philip, N; Le Merrer, M; Tanaka, H; Till, M; Touraine, R; Toutain, A; Vekemans, M; Munnich, A; Lyonnet, S
   Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures
   AMERICAN JOURNAL OF HUMAN GENETICS
   
   J. Amiel et al., "Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures", AM J HU GEN, 69(6), 2001, pp. 1370-1377
10. Gedeon, AK; Tiller, GE; Le Merrer, M; Heuertz, S; Tranebjaerg, L; Chitayat, D; Robertson, S; Glass, IA; Savarirayan, R; Cole, WG; Rimoin, DL; Kousseff, BG; Ohashi, H; Zabel, B; Munnich, A; Gecz, J; Mulley, JC
    The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    A.K. Gedeon et al., "The molecular basis of X-linked spondyloepiphyseal dysplasia tarda", AM J HU GEN, 68(6), 2001, pp. 1386-1397
11. Castelnau, P; Le Merrer, M; Diatloff-Zito, C; Marquis, E; Tete, MJ; Robert, JJ
    Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy
    EUROPEAN JOURNAL OF PEDIATRICS
    
    P. Castelnau et al., "Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy", EUR J PED, 159(8), 2000, pp. 631-633
12. Faivre, L; Prieur, AM; Le Merrer, M; Hayem, F; Penet, C; Woo, P; Hofer, M; Dagoneau, N; Sermet, I; Munnich, A; Cormier-Daire, V
    Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    L. Faivre et al., "Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome", AM J MED G, 95(3), 2000, pp. 233-236
13. Manouvrier, S; Moerman, A; Coeslier, A; Devisme, L; Boute, O; Le Merrer, M
    Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    S. Manouvrier et al., "Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?", AM J MED G, 90(5), 2000, pp. 351-355
14. Renier, D; El Ghouzzi, V; Bonaventure, J; Le Merrer, M; Lajeunie, E
    Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome
    JOURNAL OF NEUROSURGERY
    
    D. Renier et al., "Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome", J NEUROSURG, 92(4), 2000, pp. 631-636
15. Cormier-Daire, V; Chauvet, ML; Lyonnet, S; Briard, ML; Munnich, A; Le Merrer, M
    Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
    JOURNAL OF MEDICAL GENETICS
    
    V. Cormier-Daire et al., "Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation", J MED GENET, 37(7), 2000, pp. 520-524
16. Cormier-Daire, V; Amiel, J; Vuillaumier-Barrot, S; Tan, J; Durand, G; Munnich, A; Le Merrer, M; Seta, N
    Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism
    JOURNAL OF MEDICAL GENETICS
    
    V. Cormier-Daire et al., "Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism", J MED GENET, 37(11), 2000, pp. 875-877
17. Faivre, L; Le Merrer, M; Megarbane, A; Gilbert, B; Mortier, G; Cusin, V; Munnich, A; Maroteaux, P; Cormier-Daire, V
    Exclusion of chromosome 9 helps to identify mild variants of acromesomelicdysplasia Maroteaux type
    JOURNAL OF MEDICAL GENETICS
    
    L. Faivre et al., "Exclusion of chromosome 9 helps to identify mild variants of acromesomelicdysplasia Maroteaux type", J MED GENET, 37(1), 2000, pp. 52-54
18. Xu, MQ; Feldman, G; Le Merrer, M; Shugart, YY; Glaser, DL; Urtizberea, JA; Fardeau, M; Connor, JM; Triffitt, J; Smith, R; Shore, EM; Kaplan, FS
    Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)
    CLINICAL GENETICS
    
    M.Q. Xu et al., "Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)", CLIN GENET, 58(4), 2000, pp. 291-298
19. Xavier, ABCF; Saraiva, JM; Le Merrer, M; Dagoneau, N; Huber, C; Penet, C; Munnich, A; Cormier-Daire, V
    Genetic homogeneity of the Camurati-Engelmann disease
    CLINICAL GENETICS
    
    A.B.C.F. Xavier et al., "Genetic homogeneity of the Camurati-Engelmann disease", CLIN GENET, 58(2), 2000, pp. 150-152
20. Shore, EM; Rogers, JG; Smith, R; Gannon, FH; Delatycki, M; Urtizberea, JA; Triffitt, J; Le Merrer, M; Kaplan, FS
    Fibrodysplasia ossificans progressiva
    GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE
    
    E.M. Shore et al., "Fibrodysplasia ossificans progressiva", GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE, 2000, pp. 211-236
21. Hurvitz, JR; Suwairi, WM; Van Hul, W; El-Shanti, H; Superti-Furga, A; Roudier, J; Holderbaum, D; Pauli, RM; Herd, JK; Van Hul, E; Rezai-Delui, H; Legius, E; Le Merrer, M; Al-Alami, J; Bahabri, SA; Warman, ML
    Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
    NATURE GENETICS
    
    J.R. Hurvitz et al., "Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia", NAT GENET, 23(1), 1999, pp. 94-98
22. El Ghouzzi, V; Lajeunie, E; Le Merrer, M; Cormier-Daire, V; Renier, D; Munnich, A; Bonaventure, J
    Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    V. El Ghouzzi et al., "Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome", EUR J HUM G, 7(1), 1999, pp. 27-33
23. Cormier-Daire, V; Belin, V; Cusin, V; Viot, G; Girlich, D; Toutain, A; Moncla, A; Vekemans, M; Le Merrer, M; Munnich, A
    SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome
    ACTA PAEDIATRICA
    
    V. Cormier-Daire et al., "SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome", ACT PAEDIAT, 88, 1999, pp. 55-59
24. Heinz-Erian, P; Schmidt, H; Le Merrer, M; Phillips, AD; Kiess, W; Hadorn, HB
    Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    
    P. Heinz-Erian et al., "Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia", J PED GASTR, 28(2), 1999, pp. 203-205
25. Briault, S; Odent, S; Lucas, J; Le Merrer, M; Turleau, C; Munnich, A; Moraine, C
    Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    S. Briault et al., "Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome", AM J MED G, 86(2), 1999, pp. 112-114
26. Amiel, J; de Lonlay, P; Francannet, C; Picard, A; Bruel, H; Rabier, D; Le Merrer, M; Verhoeven, N; Jakobs, C; Lyonnet, S; Munnich, A
    Facial anomalies in D-2-hydroxyglutaric aciduria
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    J. Amiel et al., "Facial anomalies in D-2-hydroxyglutaric aciduria", AM J MED G, 86(2), 1999, pp. 124-129
27. Lajeunie, E; Cameron, R; El Ghouzzi, V; de Parseval, N; Journeau, P; Gonzales, M; Delezoide, AL; Bonaventure, J; Le Merrer, M; Renier, D
    Clinical variability in patients with Apert's syndrome
    JOURNAL OF NEUROSURGERY
    
    E. Lajeunie et al., "Clinical variability in patients with Apert's syndrome", J NEUROSURG, 90(3), 1999, pp. 443-447
28. Faivre, L; Delezoide, AL; Narcy, F; Razavi, F; Bouvier, R; Cormier-Daire, V; Briard, ML; Lyonnet, S; Vekemans, M; Munnich, A; Le Merrer, M
    A new lethal syndrome of exomphalos, short limbs, and macrogonadism
    JOURNAL OF MEDICAL GENETICS
    
    L. Faivre et al., "A new lethal syndrome of exomphalos, short limbs, and macrogonadism", J MED GENET, 36(2), 1999, pp. 131-136
29. Lajeunie, E; El Ghouzzi, V; Le Merrer, M; Munnich, A; Bonaventure, J; Renier, D
    Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
    JOURNAL OF MEDICAL GENETICS
    
    E. Lajeunie et al., "Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation", J MED GENET, 36(1), 1999, pp. 9-13
30. Schipani, E; Langman, C; Hunzelman, J; Le Merrer, M; Loke, KY; Dillon, MJ; Silve, C; Juppner, H
    A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation inJansen's metaphyseal chondrodysplasia
    JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    
    E. Schipani et al., "A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation inJansen's metaphyseal chondrodysplasia", J CLIN END, 84(9), 1999, pp. 3052-3057
31. Vilain, E; Le Merrer, M; Lecointre, C; Desangles, F; Kay, MA; Maroteaux, P; McCabe, ERB
    Commentary - IMAGe, a new clinical association of Intrauterine growth retardation, Mataphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies
    JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    
    E. Vilain et al., "Commentary - IMAGe, a new clinical association of Intrauterine growth retardation, Mataphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies", J CLIN END, 84(12), 1999, pp. 4335-4340
32. Picard, C; Couderc, S; Skojaei, T; Salomon, R; de Lonlay, P; Le Merrer, M; Munnich, A; Lyonnet, S; Amiel, J
    Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement
    CLINICAL GENETICS
    
    C. Picard et al., "Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement", CLIN GENET, 56(2), 1999, pp. 170-172
33. Megarbane, A; Haddad, FA; Haddad-Zebouni, S; Achram, M; Eich, G; Le Merrer, M; Superti-Furga, A
    Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia
    CLINICAL GENETICS
    
    A. Megarbane et al., "Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia", CLIN GENET, 56(1), 1999, pp. 71-76
34. Paassilta, P; Lohiniva, J; Annunen, S; Bonaventure, J; Le Merrer, M; Pai, L; Ala-Kokko, L
    COL9A3: A third locus for multiple epiphyseal dysplasia
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    P. Paassilta et al., "COL9A3: A third locus for multiple epiphyseal dysplasia", AM J HU GEN, 64(4), 1999, pp. 1036-1044
35. Urtizberea, JA; Testart, H; Cartault, F; Boccon-Gibod, L; Le Merrer, M; Kaplan, FS
    Progressive osseous heteroplasia - Report of a family
    JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME
    
    J.A. Urtizberea et al., "Progressive osseous heteroplasia - Report of a family", J BONE-BR V, 80B(5), 1998, pp. 768-771
36. Maroteaux, P; Le Merrer, M
    Bilateral Poland anomaly versus thoracic dysplasia
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    P. Maroteaux e M. Le Merrer, "Bilateral Poland anomaly versus thoracic dysplasia", AM J MED G, 80(5), 1998, pp. 538-538