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La ricerca find articoli where authors phrase all words ' Wieacker, P' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 36 riferimenti
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    1. Jakubiczka, S; Bettecken, T; Koch, G; Tuysuz, B; Wollnik, B; Wieacker, P
      Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene

      CLINICAL DYSMORPHOLOGY
    2. Stumm, M; Neubauer, S; Keindorff, S; Wegner, RD; Wieacker, P; Sauer, R
      High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

      CYTOGENETICS AND CELL GENETICS
    3. Stumm, P; von Ruskowsky, A; Siebert, R; Harder, S; Varon, R; Wieacker, P; Schlegelberger, B
      No evidence for deletions of the NBS1 gene in lymphomas

      CANCER GENETICS AND CYTOGENETICS
    4. Volleth, M; Stumm, M; Mohnike, K; Kalscheuer, VM; Jakubiczka, S; Wieacker, P
      Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy

      HUMAN HEREDITY
    5. Stumm, M; Wieacker, P; Kessel-Weiner, E; Theile, U; Pascu, F; Ottolenghi, C
      Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    6. Wieacker, P; Grumpelt, U; Schulz, TO; Gharavi, B; Avenarius, S; Jakubiczka, S; Stumm, M
      Female pseudohermaphroditism caused by caudal dysgenesis

      CYTOGENETICS AND CELL GENETICS
    7. Langnaese, K; Colleaux, L; Kloos, DU; Fontes, M; Wieacker, P
      Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located onhuman chromosome X

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    8. Bruckner, R; Jentsch-Ullrich, K; Franke, A; Wieacker, P; Stumm, M
      A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia

      CANCER GENETICS AND CYTOGENETICS
    9. Winter, C; tom Dieck, S; Boeckers, TM; Bockmann, J; Kampf, U; Sanmarti-Vila, L; Langnaese, K; Altrock, W; Stumm, M; Soyke, A; Wieacker, P; Garner, CC; Gundelfinger, ED
      The presynaptic cytomatrix protein bassoon: Sequence and chromosomal localization of the human BSN gene

      GENOMICS
    10. Knoke, I; Allera, A; Wieacker, P
      Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR

      HUMAN GENETICS
    11. Knoke, I; Jakubiczka, S; Lehnert, H; Wieacker, P
      A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia

      ANDROLOGIA
    12. Stumm, M; Reuter, M; Mandon, U; Bruckner, R; Wieacker, P
      Trisomy 4p as result of a maternal translocation t(4;8) (q11;p23)

      KLINISCHE PADIATRIE
    13. Jakubiczka, S; Bettecken, T; Stumm, M; Nickel, I; Musebeck, J; Krebs, P; Fischer, C; Kleinstein, J; Wieacker, P
      Frequency of CFTR gene mutations in males participating in an ICSI programme

      HUMAN REPRODUCTION
    14. Gotze, A; Krebs, P; Stumm, M; Wieacker, P; Allhoff, EP
      Trisomy 8 mosaicism in a patient with tetraamelia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. DORK T; SCHNIEDERS F; JAKUBICZKA S; WIEACKER P; SCHROEDERKURTH T; SCHMIDTKE J
      A NEW MISSENSE SUBSTITUTION AT A MUTATIONAL HOT-SPOT OF THE ANDROGEN RECEPTOR IN SIBLINGS WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME

      Human mutation
    16. KLAMT B; KOZIELL A; POULAT F; WIEACKER P; SCAMBLER P; BERTA P; GESSLER M
      FRASIER-SYNDROME IS CAUSED BY DEFECTIVE ALTERNATIVE SPLICING OF WT1 LEADING TO AN ALTERED RATIO OF WT1 + -KTS SPLICE ISOFORMS/

      Human molecular genetics
    17. DIECK ST; SANMARTIVILA L; STUMM M; KAMPF U; LANGNASE K; DRESBACH R; WIEACKER P; GUNDELFINGER ED
      BASSOON, A NOVEL PRESYNAPTIC CYTOMATRIX PROTEIN, CONTAINS N-TERMINAL ZN2-FINGER MOTIFS AND A C-TERMINAL POLY-GLUTAMINE STRETCH()

      European journal of neuroscience
    18. BANNIER E; DEGEN B; MITTLER U; ZINTL F; REISS T; RIESKE K; BRUCKNER R; KROPF S; WIEACKER P
      MULTIPLICATION OF CHROMOSOMES AND PRIMARY LEUKOCYTE NUMBER IN CHILDHOOD ALL AND HYPERDIPLOID KARYOTYPE

      Klinische Padiatrie
    19. Soyke, A; Stumm, M; Krebs, P; Kloos, DU; Wieacker, P; Elsner, J; Mohnike, K
      Familial occurrence of a del(Xp-) chromosome: Pitfall in karyotype/phenotype correlation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. KREBS P; WIEACKER P
      A CASE OF COFFIN-SIRIS-SYNDROME

      Monatsschrift fur Kinderheilkunde
    21. MUSEBECK J; SCHULZE R; STEINBICKER V; WIEACKER P
      JUVENILE PARODONTOPATHY IN A CASE OF EHLE RS-DANLOS-SYNDROME TYPE-VIII

      Monatsschrift fur Kinderheilkunde
    22. JAKUBICZKA S; MOHNIKE K; WIEACKER P
      TURNERS-SYNDROME - PCR-BASED SCREENING FO R HIDDEN Y-CHROMOSOME

      Geburtshilfe und Frauenheilkunde
    23. JAKUBICZKA S; NEDEL S; WERDER EA; SCHLEIERMACHER E; THEILE U; WOLFF G; WIEACKER P
      MUTATIONS OF THE ANDROGEN RECEPTOR GENE IN PATIENTS WITH COMPLETE ANDROGEN INSENSITIVITY

      Human mutation
    24. WOLLNIK B; SCHROEDER BC; KUBISCH C; ESPERER HD; WIEACKER P; JENTSCH TJ
      PATHOPHYSIOLOGICAL MECHANISMS OF DOMINANT AND RECESSIVE KVLQT1 K-ARRHYTHMIAS( CHANNEL MUTATIONS FOUND IN INHERITED CARDIAC)

      Human molecular genetics
    25. WIEACKER P
      GENETIC-ASPECTS OF MALE-INFERTILITY

      Archives of gynecology and obstetrics
    26. KLOOS DU; JAKUBICZKA S; WIENKER T; WOLFF G; WIEACKER P
      LOCALIZATION OF THE GENE FOR WIEACKER-WOLFF-SYNDROME IN THE PERICENTROMERIC REGION OF THE X-CHROMOSOME

      Human genetics
    27. WIEACKER P; JAKUBICZKA S
      GENETIC CAUSES OF MALE-INFERTILITY

      Andrologia
    28. KNOKE I; JAKUBICZKA S; OTTERSEN T; GOPPINGER A; WIEACKER P
      A(870)E MUTATION OF THE ANDROGEN RECEPTOR GENE IN A PATIENT WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME AND SERTOLI-CELL TUMOR

      Cancer genetics and cytogenetics
    29. MERTSALOV IB; STUMM M; WIEACKER P; DIECK ST; GUNDELFINGER E; TSETLIN VI
      THE STRUCTURE AND CHROMOSOMAL LOCALIZATIO N OF THE HUMAN NEUROGRANIN GENE

      Bioorganiceskaa himia
    30. JAKUBICZKA S; QUAISER A; NICKEL I; KLEINSTEIN J; WIEACKER P
      MOLECULAR-GENETIC STUDIES AT THE ANDROGEN RECEPTOR-GENE IN FEMALE-PATIENTS WITH PCO SYNDROME

      Geburtshilfe und Frauenheilkunde
    31. WIEACKER P; VONMUHLENDAHL KE
      DISORDER OF 17-BETA-HYDROSTEROID DEHYDROG ENASE IN 2 SIBS WITH HYPERGONADOTROPIC HYPOGONADISM

      Geburtshilfe und Frauenheilkunde
    32. WIEACKER P; MISSBACH D; JAKUBICZKA S; ALBERS N
      SEX REVERSAL IN A CHILD WITH THE KARYOTYPE 46, XY, DUP(1) (P22.3P32.3)

      Clinical genetics
    33. TASSABEHJI M; NEWTON VE; LIU XZ; BRADY A; DONNAI D; KRAJEWSKAWALASEK M; MURDAY V; NORMAN A; OBERSZTYN E; REARDON W; RICE JC; TREMBATH R; WIEACKER P; WHITEFORD M; WINTER R; READ AP
      THE MUTATIONAL SPECTRUM IN WAARDENBURG SYNDROME

      Human molecular genetics
    34. SCHUTGENS RBH; WANDERS RJA; JAKOBS C; ARSLANKIRCHNER M; MILLER K; WIEACKER P; HUNNEMANN D; HURTER P; VONSCHUTZ M
      A NEW VARIANT OF ZELLWEGER-SYNDROME WITH NORMAL PEROXISOMAL FUNCTIONSIN CULTURED FIBROBLASTS

      Journal of inherited metabolic disease
    35. KONIG A; JAKUBICZKA S; WIEACKER P; SCHLOSSER HW; GESSLER M
      FURTHER EVIDENCE THAT IMBALANCE OF WT1 ISOFORMS MAY BE INVOLVED IN DENYS - DRASH SYNDROME

      Human molecular genetics
    36. BECKMANN MW; DERESER MM; WIEACKER P; FLECKEN U; BRECKWOLDT M
      INFLUENCE OF STEROID-HORMONES ON 5ALPHA-R EDUCTASE ACTIVITY OF FEMALEAND MALE GENITAL SKIN FIBROBLASTS IN-VITRO

      Archives of gynecology and obstetrics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 14:54:31