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La ricerca find articoli where authors phrase all words ' Cormier-Daire, V' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 51 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. Holder-Espinasse, M; de Blois, MC; Faivre, L; Romana, S; Uteza, Y; Munnich, A; Lyonnet, S; Cormier-Daire, V; Amiel, J
      Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

      CLINICAL DYSMORPHOLOGY
    3. 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
    4. 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
    5. Cormier-Daire, V
      Clinical approach to the dysmorphic syndrome in children

      ARCHIVES DE PEDIATRIE
    6. Rio, M; Ozilou, C; Cormier-Daire, V; Turleau, C; Prieur, M; Vekemans, M; Chauveau, P; Munnich, A; Colleaux, L
      Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation

      HUMAN GENETICS
    7. Cormier-Daire, V; Savarirayan, R; Unger, S; Rimoin, DL; Lachman, RS
      "Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias

      PEDIATRIC RADIOLOGY
    8. Gauthier-Villars, M; Landrieu, P; Cormier-Daire, V; Jacquemin, E; Chretien, D; Rotig, A; Rustin, P; Munnich, A; de Lonlay, P
      Respiratory chain deficiency in Alpers syndrome

      NEUROPEDIATRICS
    9. Amiel, J; Attie-Bitach, T; Marianowski, R; Cormier-Daire, V; Abadie, V; Bonnet, D; Gonzales, M; Chemouny, S; Brunelle, F; Munnich, A; Manach, Y; Lyonnet, S
      Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Faivre, L; Nivelon-Chevallier, A; Kottler, ML; Robinet, C; Van Kien, PK; Lorcerie, B; Munnich, A; Maroteaux, P; Cormier-Daire, V; LeMerrer, M
      Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. Faivre, L; Vekemans, M; Sanlaville, D; Munnich, A; Cormier-Daire, V
      No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Megarbane, A; Cormier-Daire, V
      Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: Previously undescribed MCA/MR syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P
      Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Cormier-Daire, V; Savarirayan, R; Lachman, RS; Neidich, JA; Grace, K; Rimoin, DL; Wilcox, WR
      "Baby rattle" pelvis dysplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Dubern, B; Broue, P; Dubuisson, C; Cormier-Daire, V; Habes, D; Chardot, C; Devictor, D; Munnich, A; Bernard, O
      Orthotopic liver transplantation for mitochondrial respiratory chain disorders: A study of 5 children

      TRANSPLANTATION
    16. Holder-Espinasse, M; Abadie, V; Cormier-Daire, V; Beyler, C; Manach, Y; Munnich, A; Lyonnet, S; Couly, G; Amiel, J
      Pierre Robin sequence: A series of 117 consecutive cases

      JOURNAL OF PEDIATRICS
    17. 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
    18. Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J
      MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

      JOURNAL OF MEDICAL GENETICS
    19. 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
    20. Von Kleist-Retzow, JC; Yao, JB; Taanman, JW; Chantrel, K; Chretien, D; Cormier-Daire, V; Rotig, A; Munnich, A; Rustin, P; Shoubridge, EA
      Mutations in SURF1 are not specifically associated with Leigh syndrome

      JOURNAL OF MEDICAL GENETICS
    21. 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
    22. 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
    23. Dupre, T; Cuer, M; Barrot, S; Barnier, A; Cormier-Daire, V; Munnich, A; Durand, G; Seta, N
      Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

      CLINICAL CHEMISTRY
    24. Benit, P; Chretien, D; Kadhom, N; de Lonlay-Debeney, P; Cormier-Daire, V; Cabral, A; Peudenier, S; Rustin, P; Munnich, A; Rotig, A
      Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Aebi, M; Helenius, A; Schenk, B; Barone, R; Fiumara, A; Berger, EG; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlstrom, JG; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier-Daire, V; de Lonlay, P; Cuer, M; Dupre, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L; Fabritz, L; Hasilik, M; Marquardt, T; Niehues, R; Freeze, H; Grunewald, S; Heykants, L; Jaeken, J; Matthijs, G; Schollen, E; Keir, G; Kjaergaard, S; Schwartz, M; Skovby, F; Klein, A; Roussel, P; Korner, C; Lubke, T; Thiel, C; von Figura, K; Koscielak, J; Krasnewich, D; Lehle, L; Peters, V; Raab, M; Saether, O; Schachter, H; Van Schaftingen, E; Verbert, A; Vilaseca, A; Wevers, R; Yamashita, K
      Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG

      GLYCOBIOLOGY
    26. Dupre, T; Barnier, A; de Lonlay, P; Cormier-Daire, V; Durand, G; Codogno, P; Seta, N
      Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia

      GLYCOBIOLOGY
    27. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

      ARCHIVES DE PEDIATRIE
    28. Savarirayan, R; Cormier-Daire, V; Lachman, RS; Rimoin, DL
      Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type

      PEDIATRIC RADIOLOGY
    29. Faivre, L; Cormier-Daire, V; Chretien, D; von Kleist-Retzow, JC; Amiel, J; Dommergues, M; Saudubray, JM; Dumez, Y; Rotig, A; Rustin, P; Munnich, A
      Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

      PRENATAL DIAGNOSIS
    30. Savarirayan, R; Cormier-Daire, V; Unger, S; Lachman, RS; Roughley, PJ; Wagner, SF; Rimoin, DL; Wilcox, WR
      Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. 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
    32. Savarirayan, R; Cormier-Daire, V; Curry, CJ; Nashelsky, MB; Rappaport, V; Rimoin, DL; Lachman, RS
      New mesomelic dysplasia with absent fibulae and triangular tibiae

      AMERICAN JOURNAL OF MEDICAL GENETICS
    33. Faivre, L; Viot, G; Prieur, M; Turleau, C; Gosset, P; Romana, S; Munnich, A; Vekemans, M; Cormier-Daire, V
      Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    34. de Lonlay-Debeney, P; von Kleist-Retzow, JC; Hertz-Pannier, L; Peudenier, S; Cormier-Daire, V; Berquin, P; Chretien, D; Rotig, A; Saudubray, JM; Baraton, J; Brunelle, F; Rustin, P; Van der Knaap, M; Munnich, A
      Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

      JOURNAL OF PEDIATRICS
    35. Vuillaumier-Barrot, S; Hetet, G; Barnier, A; Dupre, T; Cuer, M; de Lonlay, P; Cormier-Daire, V; Durand, G; Grandchamp, B; Seta, N
      Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

      JOURNAL OF MEDICAL GENETICS
    36. 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
    37. 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
    38. 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
    39. Raas-Rothschild, A; Cormier-Daire, V; Bao, M; Genin, E; Salomon, R; Brewer, K; Zeigler, M; Mandel, H; Toth, S; Roe, B; Munnich, A; Canfield, WM
      Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

      JOURNAL OF CLINICAL INVESTIGATION
    40. 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
    41. Valnot, I; Osmond, S; Gigarel, N; Mehaye, B; Amiel, J; Cormier-Daire, V; Munnich, A; Bonnefont, JP; Rustin, P; Rotig, A
      Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy

      AMERICAN JOURNAL OF HUMAN GENETICS
    42. Cormier-Daire, V; Dagoneau, N; Nabbout, R; Burglen, L; Penet, C; Soufflet, C; Desguerre, I; Munnich, A; Dulac, O
      A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

      AMERICAN JOURNAL OF HUMAN GENETICS
    43. 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
    44. Dupre, T; Ogier-Denis, E; Moore, SEH; Cormier-Daire, V; Dehoux, M; Durand, G; Seta, N; Codogno, P
      Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    45. 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
    46. Seta, N; Dupre, T; Cormier-Daire, V; de Lonlay, P; Moore, S; Durand, G; Codogno, P
      Mannose metabolism and carbohydrate deficient glycoprotein syndrome type I

      M S-MEDECINE SCIENCES
    47. Parfait, B; de Lonlay, P; von Kleist-Retzow, JC; Cormier-Daire, V; Chretien, D; Rotig, A; Rabier, D; Saudubray, JM; Rustin, P; Munnich, A
      The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

      EUROPEAN JOURNAL OF PEDIATRICS
    48. de Lonlay-Debeney, P; Edery, P; Cormier-Daire, V; Parfait, B; Chretien, D; Rotig, A; Romero, N; Saudubray, JM; Munnich, A; Rustin, P
      Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood

      NEUROPEDIATRICS
    49. Amiel, J; Cormier-Daire, V; Journeau, P; Mussat, P; Munnich, A; Lyonnet, S
      Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

      JOURNAL OF MEDICAL GENETICS
    50. 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
    51. Baud, O; Cormier-Daire, V; Lyonnet, S; Desjardins, L; Turleau, C; Doz, F
      Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion

      CLINICAL GENETICS


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Documento generato il 21/10/20 alle ore 10:07:08