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La ricerca find articoli where authors phrase all words ' Le Merrer, M' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 36 riferimenti
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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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    36. Maroteaux, P; Le Merrer, M
      Bilateral Poland anomaly versus thoracic dysplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/21 alle ore 00:54:42