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La ricerca find articoli where authors phrase all words ' De Paepe, A' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 43 riferimenti
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    1. Van Limbergen, H; Poppe, B; Michaux, L; Herens, C; Brown, J; Noens, L; Berneman, Z; De Bock, R; De Paepe, A; Speleman, F
      Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH

      GENES CHROMOSOMES & CANCER
    2. Delvaux, I; Van Tongerloo, A; Messiaen, L; Van Loon, C; De Bie, S; Mortier, G; De Paepe, A
      Carrier screening for cystic fibrosis in a prenatal setting

      GENETIC TESTING
    3. Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Salwen, H; Laureys, G; Manoel, N; De Paepe, A; Speleman, F
      Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines

      GENES CHROMOSOMES & CANCER
    4. Van Limbergen, H; Beverloo, HB; van Drunen, E; Janssens, A; Hahlen, K; Poppe, B; Van Roy, N; Marynen, P; De Paepe, A; Slater, R; Speleman, F
      Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia

      GENES CHROMOSOMES & CANCER
    5. De Baere, E; Dixon, MJ; Small, KW; Jabs, EW; Leroy, BP; Devriendt, K; Gillerot, Y; Mortier, G; Meire, F; Van Maldergem, L; Courtens, W; Hjalgrim, H; Huang, S; Liebaers, I; Van Regemorter, N; Touraine, P; Praphanphoj, V; Verloes, A; Udar, N; Yellore, V; Chalukya, M; Yelchits, S; De Paepe, A; Kuttenn, F; Fellous, M; Veitia, R; Messiaen, L
      Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

      HUMAN MOLECULAR GENETICS
    6. Van Vlierberghe, H; Delanghe, JR; De Bie, S; Praet, M; De Paepe, A; Messiaen, L; De Vos, M; Leroux-Roels, G
      Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    7. Van Pottelbergh, I; Goemaere, S; Nuytinck, L; De Paepe, A; Kaufman, JM
      Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men

      OSTEOPOROSIS INTERNATIONAL
    8. Gardella, R; Nuytinck, L; Barlati, S; Van Acker, P; Tadini, G; De Paepe, A; Colombi, M
      Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    9. Poppe, B; Van Limbergen, H; Van Roy, N; Vandecruys, E; De Paepe, A; Benoit, Y; Speleman, F
      Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies

      CANCER GENETICS AND CYTOGENETICS
    10. Gong, YQ; Slee, RB; Fukai, N; Rawadi, G; Roman-Roman, S; Reginato, AM; Wang, HW; Cundy, T; Glorieux, FH; Lev, D; Zacharin, M; Oexle, K; Marcelino, J; Suwairi, W; Heeger, S; Sabatakos, G; Apte, S; Adkins, WN; Allgrove, J; Arslan-Kirchner, M; Batch, JA; Beighton, P; Black, GCM; Boles, RG; Boon, LM; Borrone, C; Brunner, HG; Carle, GF; Dallapiccola, B; De Paepe, A; Floege, B; Halfhide, ML; Hall, B; Hennekam, RC; Hirose, T; Jans, A; Juppner, H; Kim, CA; Keppler-Noreuil, K; Kohlschuetter, A; LaCombe, D; Lambert, M; Lemyre, E; Letteboer, T; Peltonen, L; Ramesar, RS; Romanengo, M; Somer, H; Steichen-Gersdorf, E; Steinmann, B; Sullivan, B; Superti-Furga, A; Swoboda, W; van den Boogaard, MJ; Van Hul, V; Vikkula, M; Votruba, M; Zabel, B; Garcia, T; Baron, R; Olsen, BR; Warman, ML
      LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

      CELL
    11. Van Gele, M; Leonard, JH; Van Roy, N; Cook, AL; De Paepe, A; Speleman, F
      Frequent allelic loss at 10q23 but low incidence of PTEN mutations in Merkel cell carcinoma

      INTERNATIONAL JOURNAL OF CANCER
    12. Jansen, T; De Paepe, A; Nuytinck, L; Altmeyer, P
      Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene

      BRITISH JOURNAL OF DERMATOLOGY
    13. Loeys, B; Nuytinck, L; Delvaux, I; De Bie, S; De Paepe, A
      Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome

      ARCHIVES OF INTERNAL MEDICINE
    14. Le Saux, O; Beck, K; Sachsinger, C; Silvestri, C; Treiber, C; Goring, HHH; Johnson, EW; De Paepe, A; Pope, FM; Pasquali-Ronchetti, I; Bercovitch, L; Terry, S; Boyd, CD
      A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. De Paepe, A; Nuytinck, L
      Heritable collagen disorders: From genotype to phenotype

      ACTA CLINICA BELGICA
    16. Le Saux, O; Urban, Z; Tschuch, C; Csiszar, K; Bacchelli, B; Quaglino, D; Pasquali-Ronchetti, I; Pope, FM; Richards, A; Terry, S; Bercovitch, L; de Paepe, A; Boyd, CD
      Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

      NATURE GENETICS
    17. Messiaen, LM; Callens, T; Mortier, G; Beysen, D; Vandenbroucke, I; Van Roy, N; Speleman, F; De Paepe, A
      Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

      HUMAN MUTATION
    18. De Baere, E; Fukushima, Y; Small, K; Udar, N; Van Camp, G; Verhoeven, K; Palotie, A; De Paepe, A; Messiaen, L
      Identification of BPESC1, a novel gene disrupted by a balanced chromosomaltranslocation, t(3;4)(q23;p15.2), in a patient with BPES

      GENOMICS
    19. De Vos, A; Sermon, K; Van de Velde, H; Joris, H; Vandervorst, M; Lissens, W; De Paepe, A; Liebaers, I; Van Steirteghem, A
      Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV

      HUMAN GENETICS
    20. Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Laureys, G; De Paepe, A; Speleman, F
      Chromosome 2 short arm translocations revealed by M-FISH analysis of neuroblastoma cell lines

      MEDICAL AND PEDIATRIC ONCOLOGY
    21. De Paepe, A; Herman, JC; Hekker, P; Jansen, EFM
      Metallurgical aspects for the production of formable thin hot strips

      Revue de métallurgie
    22. Nuytinck, L; Tukel, T; Kayserili, H; Apak, MY; De Paepe, A
      Glycine to tryptophan substitution in type I collagen in a patient with OItype III: a unique collagen mutation

      JOURNAL OF MEDICAL GENETICS
    23. Mortier, GR; Weis, M; Nuytinck, L; King, LM; Wilkin, DJ; De Paepe, A; Lachman, RS; Rimoin, D; Eyre, DR; Cohn, DH
      Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

      JOURNAL OF MEDICAL GENETICS
    24. Mortier, G; Nuytinck, L; Craen, M; Renard, JP; Leroy, JG; De Paepe, A
      Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

      JOURNAL OF MEDICAL GENETICS
    25. Lambert, J; Naeyaert, JM; De Paepe, A; Van Coster, R; Ferster, A; Song, M; Messiaen, L
      Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    26. Jansen, T; de Paepe, A; Luytinck, N; Plewig, G
      COL3A1 mutation leading to acrogeria (Gottron type)

      BRITISH JOURNAL OF DERMATOLOGY
    27. Van Gele, M; Kaghad, M; Leonard, JH; Van Roy, N; Naeyaert, JM; Geerts, ML; Van Belle, S; Cocquyt, V; Bridge, J; Sciot, R; De Wolf-Peeters, C; De Paepe, A; Caput, D; Speleman, F
      Mutation analysis of P73 and TP53 in Merkel cell carcinoma

      BRITISH JOURNAL OF CANCER
    28. Nuytinck, L; Freund, M; Lagae, L; Pierard, GE; Hermanns-Le, T; De Paepe, A
      Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

      AMERICAN JOURNAL OF HUMAN GENETICS
    29. Van Vlierberghe, H; Messiaen, L; Hautekeete, M; De Paepe, A; Elewaut, A
      Prevalence of the Cys282Tyr and His63Asp mutation in flemish patients withhereditary hemochromatosis

      ACTA GASTRO-ENTEROLOGICA BELGICA
    30. De Paepe, A
      Presymptomatic testing for genetic diseases: New frontiers, new dilemmas

      ACTA CLINICA BELGICA
    31. Messiaen, LM; Callens, T; Roux, KJ; Mortier, GR; De Paepe, A; Abramowicz, M; Pericak-Vance, MA; Vance, JM; Wallace, MR
      Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing

      GENETICS IN MEDICINE
    32. De Vos, M; Nuytinck, L; Verellen, C; De Paepe, A
      Preterm premature rupture of membranes in a patient with the hypermobilitytype of the Ehlers-Danlos syndrome - A case report

      FETAL DIAGNOSIS AND THERAPY
    33. De Paepe, A; Loeys, B; Devriendt, K; Fryns, JP
      Occipital Horn syndrome in a 2-year-old boy

      CLINICAL DYSMORPHOLOGY
    34. De Baere, E; Van Roy, N; Speleman, F; Fukushima, Y; De Paepe, A; Messiaen, L
      Closing in an the BPES gene on 3q23: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta '-COP, distal to the breakpoint

      GENOMICS
    35. Wuyts, W; Spieker, N; Van Roy, N; De Boulle, K; De Paepe, A; Willems, PJ; Van Hul, W; Versteeg, R; Speleman, F
      Refined physical mapping and genomic structure of the EXTL1 gene

      CYTOGENETICS AND CELL GENETICS
    36. Claes, K; Machackova, E; De Vos, M; Poppe, B; De Paepe, A; Messiaen, L
      Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5+3A > G

      DISEASE MARKERS
    37. De Vos, M; Poppe, B; Delvaux, I; Mortier, G; Claes, K; Messiaen, L; De Paepe, A
      Genetic counselling and testing for hereditary breast and ovarian cancer: The gent(le) approach

      DISEASE MARKERS
    38. Nuytinck, L; Sayli, BS; Karen, W; De Paepe, A
      Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-alleletesting

      PRENATAL DIAGNOSIS
    39. Kooy, RF; Reyniers, E; Storm, K; Vits, L; van Velzen, D; de Ruiter, PE; Brinkmann, AO; de Paepe, A; Willems, PJ
      CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    40. De Paepe, A
      Dural ectasia and the diagnosis of Marfan's syndrome

      LANCET
    41. De Baere, E; Speleman, F; Van Roy, N; Mortier, K; De Paepe, A; Messiaen, L
      Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization

      CYTOGENETICS AND CELL GENETICS
    42. De Baere, E; Speleman, F; Van Roy, N; De Paepe, A; Messiaen, L
      Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta ' subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization

      CYTOGENETICS AND CELL GENETICS
    43. De Baere, E; Speleman, F; Van Roy, N; De Paepe, A; Messiaen, L
      Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25 -> q26.1 by in situ hybridization

      CYTOGENETICS AND CELL GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/05/20 alle ore 19:50:47