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La ricerca find articoli where soggetti phrase all words 'WAARDENBURG-HIRSCHSPRUNG-DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 36 riferimenti
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    1. Machado, AF; Martin, LJ; Collins, MD
      Pax3 and the splotch mutations: Structure, function, and relationship to teratogenesis, including gene-chemical interactions

      CURRENT PHARMACEUTICAL DESIGN
    2. Dutton, KA; Pauliny, A; Lopes, SS; Elworthy, S; Carney, TJ; Rauch, J; Geisler, R; Haffter, P; Kelsh, RN
      Zebrafish colourless encodes sox10 and specifies non-ectomesenchymal neural crest fates

      DEVELOPMENT
    3. Paratore, C; Goerich, DE; Suter, U; Wegner, M; Sommer, L
      Survival and glial fate acquisition of neural crest cells are regulated byan interplay between the transcription factor Sox10 and extrinsic combinatorial signaling

      DEVELOPMENT
    4. Marazita, ML; Maher, BS; Cooper, ME; Silvestri, JM; Huffman, AD; Smok-Pearsall, SM; Kowal, MH; Weese-Mayer, DE
      Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Weese-Mayer, DE; Silvestri, JM; Huffman, AD; Smok-Pearsall, SM; Kowal, MH; Maher, BS; Cooper, ME; Marazita, ML
      Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Gariepy, CE
      Intestinal motility disorders and development of the enteric nervous system

      PEDIATRIC RESEARCH
    7. Jacquemin, P; Lannoy, VJ; O'Sullivan, J; Read, A; Lemaigre, FP; Rousseau, GG
      The transcription factor onecut-2 controls the Microphthalmia-associated transcription factor gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    8. Yamada, K; Yamada, Y; Nomura, N; Miura, K; Wakako, R; Hayakawa, C; Matsumoto, A; Kumagai, T; Yoshimura, I; Miyazaki, S; Kato, K; Sonta, S; Ono, H; Yamanaka, T; Nagaya, M; Wakamatsu, N
      Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Resendes, BL; Williamson, RE; Morton, CC
      At the speed of sound: Gene discovery in the auditory system

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Hofstra, RMW; Wu, Y; Stulp, RP; Elfferich, P; Osinga, J; Maas, SM; Siderius, L; Brooks, AS; Von der Ende, JJ; Heydendael, VMR; Severijnen, RSVM; Bax, KMA; Meijers, C; Buys, CHCM
      RET and GDNF gene scanning in Hirschprung patients using two dual denaturing gel systems

      HUMAN MUTATION
    11. Uitto, J; Pulkkinen, L
      The genodermatoses: Candidate diseases for gene therapy

      HUMAN GENE THERAPY
    12. Kelsh, RN; Eisen, JS
      The zebrafish colourless gene regulates development of non-ectomesenchymalneural crest derivatives

      DEVELOPMENT
    13. Halaban, R
      The regulation of normal melanocyte proliferation

      PIGMENT CELL RESEARCH
    14. Inoue, K; Shimotake, T; Iwai, N
      Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Hoff, AO; Cote, GJ; Gagel, RF
      Multiple endocrine neoplasias

      ANNUAL REVIEW OF PHYSIOLOGY
    16. Nakamura, A; Kuwaki, T; Kuriyama, T; Yanagisawa, M; Fukuda, Y
      Normal ventilation and ventilatory responses to chemical stimuli in juvenile mutant mice deficient in endothelin-3

      RESPIRATION PHYSIOLOGY
    17. Grundfast, KM; Siparsky, N; Chuong, D
      Genetics and molecular biology of deafness - Update

      OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA
    18. Lang, D; Chen, F; Milewski, R; Li, J; Lu, MM; Epstein, JA
      Pax3 is required for enteric ganglia formation and functions with Sox10 tomodulate expression of c-ret

      JOURNAL OF CLINICAL INVESTIGATION
    19. Bondurand, N; Kuhlbrodt, K; Pingault, V; Enderich, J; Sajus, M; Tommerup, N; Warburg, M; Hennekam, RCM; Read, AP; Wegner, M; Goossens, N
      A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies

      HUMAN MOLECULAR GENETICS
    20. Holme, RH; Steel, KP
      Genes involved in deafness

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    21. Inoue, K; Tanabe, Y; Lupski, JR
      Myelin deficiencies in both the central and the peripheral nervous systemsassociated with a SOX10 mutation

      ANNALS OF NEUROLOGY
    22. Halaban, R
      Melanoma cell autonomous growth: The Rb/E2F pathway

      CANCER AND METASTASIS REVIEWS
    23. Kurihara, H; Kurihara, Y; Nagai, R; Yazaki, Y
      Endothelin and neural crest development

      CELLULAR AND MOLECULAR BIOLOGY
    24. Coulie, B; Camilleri, M
      Intestinal pseudo-obstruction

      ANNUAL REVIEW OF MEDICINE
    25. Nye, JS; McLone, DG; Charrow, J; Hayes, EA
      Neural crest anomaly syndromes in children with spina bifida

      TERATOLOGY
    26. Grundfast, KM; Atwood, JL; Chuong, D
      Genetics and molecular biology of deafness

      OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA
    27. Robertson, NG; Morton, CC
      Beginning of a molecular era in hearing and deafness

      CLINICAL GENETICS
    28. KALATZIS V; PETIT C
      THE FUNDAMENTAL AND MEDICAL IMPACTS OF RECENT PROGRESS IN RESEARCH ONHEREDITARY HEARING-LOSS

      Human molecular genetics (Print)
    29. AMIEL J; WATKIN PM; TASSABEHJI M; READ AP; WINTER RM
      MUTATION OF THE MITF GENE IN ALBINISM-DEAFNESS SYNDROME (TIETZ-SYNDROME)

      Clinical dysmorphology
    30. SANTSCHI EM; PURDY AK; VALBERG SJ; VROTSOS PD; KAESE H; MICKELSON JR
      ENDOTHELIN RECEPTOR-B POLYMORPHISM ASSOCIATED WITH LETHAL WHITE FOAL SYNDROME IN HORSES

      Mammalian genome
    31. HARDISTY RE; FLEMING J; STEEL KP
      THE MOLECULAR-GENETICS OF INHERITED DEAFNESS - CURRENT KNOWLEDGE AND RECENT ADVANCES

      Journal of Laryngology and Otology
    32. BRAND M; LEMOULLEC JM; CORVOL P; GASC JM
      ONTOGENY OF ENDOTHELIN-1 AND ENDOTHELIN-3, THEIR RECEPTORS, AND ENDOTHELIN-CONVERTING ENZYME-1 IN THE EARLY HUMAN EMBRYO

      The Journal of clinical investigation
    33. AMIEL J; SALOMON R; ATTIE T; PELET A; TRANG H; MOKHTARI M; GAULTIER C; MUNNICH A; LYONNET S
      MUTATIONS OF THE RET-GDNF SIGNALING PATHWAY IN ONDINES-CURSE

      American journal of human genetics
    34. JACKSON IJ
      HOMOLOGOUS PIGMENTATION MUTATIONS IN HUMAN, MOUSE AND OTHER MODEL ORGANISMS

      Human molecular genetics
    35. WAGENER C
      MOLECULAR DIAGNOSTICS

      Journal of molecular medicine
    36. GOOSSENS M
      THE NEUROCRISTOPATHIES - A PUZZLE THAT BEGINS TO REVEAL HIS MYSTERIES

      Gastroenterologie clinique et biologique


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/05/20 alle ore 23:38:30