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La ricerca find articoli where soggetti phrase all words 'DOWNS-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 1714 riferimenti
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    1. Bush, A
      Congenital lung disease: A plea for clear thinking and clear nomenclature

      PEDIATRIC PULMONOLOGY
    2. Robinson, WP; Beever, C; Brown, CJ; Stephenson, MD
      Skewed X inactivation and recurrent spontaneous abortion

      SEMINARS IN REPRODUCTIVE MEDICINE
    3. Yamamoto, R; Azuma, M; Kishida, T; Yamada, H; Satomura, S; Fujimoto, S
      Total alpha-fetoprotein and Lens culinaris agglutinin-reactive alpha-fetoprotein in fetal chromosomal abnormalities

      BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
    4. Bogdanovic, N; Zilmer, M; Zilmer, K; Rehema, A; Karelson, E
      The Swedish APP670/671 Alzheimer's disease mutation: The first evidence for strikingly increased oxidative injury in the temporal inferior cortex

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    5. Sjobeck, M; Englund, E
      Alzheimer's disease and the cerebellum: A morphologic study on neuronal and glial changes

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    6. Evenhuis, H; Henderson, CM; Beange, H; Lennox, N; Chicoine, B
      Healthy ageing - Adults with intellectual disabilities: Physical health issues

      JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
    7. Tsan, MF
      Superoxide dismutase and pulmonary oxygen toxicity: Lessons from transgenic and knockout mice (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    8. Aziz, M; Maixner, DF; DeQuardo, J; Aldridge, A; Tandon, R
      ECT and mental retardation: A review and case reports

      JOURNAL OF ECT
    9. Stoneman, Z
      Supporting positive sibling relationships during childhood

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    10. Beguiristain, JL; Barriga, A; Gent, RA
      Femoral anteversion osteotomy for the treatment of hip dislocation in Downsyndrome: Long-term evolution

      JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B
    11. Bar-Hava, I; Yitzhak, M; Krissi, H; Shohat, M; Shalev, J; Czitron, B; Ben-Rafael, Z; Orvieto, R
      Triple-test screening in in vitro fertilization pregnancies

      JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
    12. Edwards, AJ; Ring, NJ; Marshall, AJ
      Massive pericardial effusion with left-to-right intracardiac shunt

      CARDIOLOGY IN THE YOUNG
    13. Bell, E; Townsend, G; Wilson, D; Kieser, J; Hughes, T
      Effect of down syndrome on the dimensions of dental crowns and tissues

      AMERICAN JOURNAL OF HUMAN BIOLOGY
    14. Bilardo, CM; Muller, MA; Pajkrt, E
      Outcome of fetuses with increased nuchal translucency

      CURRENT OPINION IN OBSTETRICS & GYNECOLOGY
    15. Verloes, A; Gillerot, Y; Van Maldergem, L; Schoos, R; Herens, C; Jamar, M; Dideberg, V; Lesenfants, S; Koulischer, L
      Major decrease in the incidence of trisomy21 at birth in south Belgium: mass impact of triple test?

      EUROPEAN JOURNAL OF HUMAN GENETICS
    16. Bayer, TA; Wirths, O; Majtenyi, K; Hartmann, T; Multhaup, G; Beyreuther, K; Czech, C
      Key factors in Alzheimer's disease: beta-amyloid precursor protein processing, metabolism and intraneuronal transport

      BRAIN PATHOLOGY
    17. Dommergues, M; Audibert, F; Benattar, C; Champagne, C; Gomel, V; Frydman, R
      Is routine amniocentesis for advanced maternal age still indicated?

      FETAL DIAGNOSIS AND THERAPY
    18. Jenderny, J; Schmidt, W; Hecher, K; Hackeloer, BJ; Kerber, S; Kochhan, L; Held, KR
      Increased nuchal translucency, hydrops fetalis or hygroma colli - A new test strategy for early fetal aneuploidy detection

      FETAL DIAGNOSIS AND THERAPY
    19. Krebs, NF; Hambidge, KM
      Zinc metabolism and homeostasis: The application of tracer techniques to human zinc physiology

      BIOMETALS
    20. Evenhuis, HM; Theunissen, M; Denkers, I; Verschuure, H; Kemme, H
      Prevalence of visual and hearing impairment in a Dutch institutionalized population with intellectual disability

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    21. Patja, K; Eero, P; Iivanainen, M
      Cancer incidence among people with intellectual disability

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    22. Prefumo, F; Presti, F; Mavrides, E; Sanusi, AF; Bland, JM; Campbell, S; Carvalho, JS
      Isolated echogenic foci in the fetal heart: do they increase the risk of trisomy 21 in a population previously screened by nuchal translucency?

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    23. Schuchter, K; Hafner, E; Stangl, G; Ogris, E; Philipp, K
      Sequential screening for trisomy 21 by nuchal translucency measurement in the first trimester and maternal serum biochemistry in the second trimesterin a low-risk population

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    24. Aquilina, J; Thompson, O; Thilaganathan, B; Harrington, K
      Improved early prediction of pre-eclampsia by combining second-trimester maternal serum inhibin-A and uterine artery Doppler

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    25. Smrcek, JM; Baschat, AA; Germer, U; Gloeckner-Hofmann, K; Gembruch, U
      Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    26. Hamada, H; Yamada, N; Watanabe, H; Okuno, S; Fujiki, Y; Kubo, T
      Hypoechoic hepatomegaly associated with transient abnormal myelopoiesis provides clues to trisomy 21 in the third-trimester fetus

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    27. Smith-Bindman, R; Hosmer, WD; Caponigro, M; Cunningham, G
      The variability in the interpretation of prenatal diagnostic ultrasound

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    28. Jou, HJ; Wu, SC; Li, TC; Hsu, HC; Tzeng, CY; Hsieh, FJ
      Relationship between fetal nuchal translucency and crown-rump length in anAsian population

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    29. Rolf, C; Nieschlag, E
      Reproductive functions, fertility and genetic risks of ageing men

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    30. Van Dyck, M; Proesmans, W
      Growth hormone therapy in chronic renal failure induces catch-up of head circumference

      PEDIATRIC NEPHROLOGY
    31. Ozkagnici, A; Buyukmumcu, M; Zengin, N; Gunduz, K; Koc, H
      Ocular and periorbital anthropometric measurements in term Turkish newborns

      SURGICAL AND RADIOLOGIC ANATOMY
    32. Soler-Carrillo, JS; Estrach, T; Mascaro, J
      Eruptive syringoma: 27 new cases and review of the literature

      JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
    33. Garcia, RI; Henshaw, MM; Krall, EA
      Relationship between periodontal disease and systemic health

      PERIODONTOLOGY 2000
    34. Holtzman, DM
      Role of apoE/A beta interactions in the pathogenesis of Alzheimer's disease and cerebral amyloid angiopathy

      JOURNAL OF MOLECULAR NEUROSCIENCE
    35. Pahlavani, MA; Mele, JF; Richardson, A
      Effect of overexpression of human Cu/Zn-SOD on activation-induced lymphocyte proliferation and apoptosis

      FREE RADICAL BIOLOGY AND MEDICINE
    36. Moldavsky, M; Lev, D; Lerman-Sagie, T
      Behavioral phenotypes of genetic syndromes: A reference guide for psychiatrists

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    37. Shiloh, S; Eini, NJ; Ben-Neria, Z; Sagi, M
      Framing of prenatal screening test results and women's health-illness orientations as determinants of perceptions of fetal health and approval of amniocentesis

      PSYCHOLOGY & HEALTH
    38. Nugent, P; Barch, MJ; Weston, WM; Greene, RM; Pisano, MM
      Identification of trisomy 16 murine embryos by fluorescence in situ hybridization

      BIOTECHNIQUES
    39. McGlynn, KA
      Environmental and host factors in testicular germ cell tumors

      CANCER INVESTIGATION
    40. Kim, SK; Bai, SW; Chung, JE; Jung, YN; Park, KH; Cho, DJ; Kim, JW; Yang, YH; Song, CH
      Triple marker screening for fetal chromosomal abnormalities in Korean women of advanced maternal age

      YONSEI MEDICAL JOURNAL
    41. Yasseen, AA; Al-Musawi, TA
      Cytogenetics study in severely mentally retarded patients

      SAUDI MEDICAL JOURNAL
    42. D'Andrea, MR; Nagele, RG; Wang, HY; Peterson, PA; Lee, DHS
      Evidence that neurones accumulating amyloid can undergo lysis to form amyloid plaques in Alzheimer's disease

      HISTOPATHOLOGY
    43. Mehta, RK; Burrows, NR; Payne, CMER; Mendelsohn, SS; Pope, FM; Rytina, E
      Elastosis perforans serpiginosa and associated disorders

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    44. Quine, L
      Sleep problems in primary school children: comparison between mainstream and special school children

      CHILD CARE HEALTH AND DEVELOPMENT
    45. Ledger, WL
      Measurement of inhibin A and activin A in pregnancy - possible diagnostic applications

      MOLECULAR AND CELLULAR ENDOCRINOLOGY
    46. Florio, P; Cobellis, L; Luisi, S; Ciarmela, P; Severi, FM; Bocchi, C; Petraglia, F
      Changes in inhibins and activin secretion in healthy and pathological pregnancies

      MOLECULAR AND CELLULAR ENDOCRINOLOGY
    47. Getz, L
      General practitioners and prenatal testing - follow the experts or scrutinise the issue?

      SCANDINAVIAN JOURNAL OF PRIMARY HEALTH CARE
    48. Souter, VL; Nyberg, DA
      Sonographic screening for fetal aneuploidy - First trimester

      JOURNAL OF ULTRASOUND IN MEDICINE
    49. DeVore, GR; Romero, R
      Combined use of genetic sonography and maternal serum triple-marker screening - An effective method for increasing the detection of trisomy 21 in women younger than 35 years

      JOURNAL OF ULTRASOUND IN MEDICINE
    50. Shipp, TD; Bromley, B; Mascola, M; Benacerraf, B
      Variation in fetal femur length with respect to maternal race

      JOURNAL OF ULTRASOUND IN MEDICINE
    51. Chasen, ST; Skupski, DW; McCullough, LB; Chervenak, FA
      Prenatal informed consent for sonogram - The time for first-trimester nuchal translucency has come

      JOURNAL OF ULTRASOUND IN MEDICINE
    52. Neasham, D; Dolk, H; Vrijheid, M; Jensen, T; Best, N
      Stillbirth and neonatal mortality due to congenital anomalies: temporal trends and variation by small area deprivation scores in England and Wales, 1986-96

      PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
    53. Maymon, R; Jauniaux, E; Holmes, A; Wiener, YM; Dreazen, E; Herman, A
      Nuchal translucency measurement and pregnancy outcome after assisted conception versus spontaneously conceived twins

      HUMAN REPRODUCTION
    54. Liao, AW; Heath, V; Kametas, N; Spencer, K; Nicolaides, KH
      First-trimester screening for trisomy 21 in singleton pregnancies achievedby assisted reproduction

      HUMAN REPRODUCTION
    55. Maymon, R; Shulman, A
      Comparison of triple serum screening and pregnancy outcome in oocyte donation versus IVF pregnancies

      HUMAN REPRODUCTION
    56. Petticrew, M; Sowden, A; Lister-Sharp, D
      False-negative results in screening programs - Medical, psychological, andother implications

      INTERNATIONAL JOURNAL OF TECHNOLOGY ASSESSMENT IN HEALTH CARE
    57. Dranovsky, A; Vincent, I; Gregori, L; Schwarzman, A; Colflesh, D; Enghild, J; Strittmatter, W; Davies, P; Goldgaber, D
      Cdc2 phosphorylation of nucleolin demarcates mitotic stages and Alzheimer's disease pathology

      NEUROBIOLOGY OF AGING
    58. Spencer, K
      What is the true fetal loss rate in pregnancies affected by trisomy 21 andhow does this influence whether first trimester detection rates are superior to those in the second trimester?

      PRENATAL DIAGNOSIS
    59. Thirunavukarasu, PP; Wallace, EM
      Measurement of inhibin A: a modification to an enzyme-linked immunosorbentassay

      PRENATAL DIAGNOSIS
    60. Benn, PA; Gainey, A; Ingardia, CJ; Rodis, JF; Egan, JFX
      Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement

      PRENATAL DIAGNOSIS
    61. Spencer, K; Liao, AW; Ong, CYT; Flack, NJ; Nicolaides, KH
      Maternal serum activin A and inhibin A in trisomy 18 pregnancies at 10-14 weeks

      PRENATAL DIAGNOSIS
    62. Spencer, K; Liao, AW; Ong, CYT; Geerts, L; Nicolaides, KH
      Maternal serum levels of dimeric inhibin A in pregnancies affected by trisomy 21 in the first trimester

      PRENATAL DIAGNOSIS
    63. Sancken, U; Bartels, I
      Biochemical screening for chromosomal disorders and neural tube defects (NTD): is adjustment of maternal alpha-fetoprotein (AFP) still appropriate ininsulin-dependent diabetes mellitus (IDDM)?

      PRENATAL DIAGNOSIS
    64. Spencer, K; Liao, AW; Skentou, H; Ong, CYT; Nicolaides, KH
      Maternal serum levels of total activin-A in first-trimester trisomy 21 pregnancies

      PRENATAL DIAGNOSIS
    65. Sancken, U; Bartels, I
      Preliminary data on an association between blood groups and serum markers used for the so-called 'triple screening': free oestriol MoM values are decreased in rhesus-negative (Rh-) women

      PRENATAL DIAGNOSIS
    66. Halliday, JL; Warren, R; McDonald, G; Rice, PL; Bell, RJ; Watson, LF
      Prenatal diagnosis for women aged 37 years and over: to have or not to have

      PRENATAL DIAGNOSIS
    67. Benn, PA
      Singleton versus duplicate assays in maternal serum screening

      PRENATAL DIAGNOSIS
    68. Peskind, ER; Griffin, WST; Akama, KT; Raskind, MA; Van Eldik, LJ
      Cerebrospinal fluid S100B is elevated in the earlier stages of Alzheimer'sdisease

      NEUROCHEMISTRY INTERNATIONAL
    69. Blasko, I; Ransmayr, G; Veerhuis, R; Eikelenboom, P; Grubeck-Loebenstein, B
      Does IFN gamma play a role in neurodegeneration?

      JOURNAL OF NEUROIMMUNOLOGY
    70. Maluf, SW; Erdtmann, B
      Genomic instability in Down syndrome and Fanconi anemia assessed by micronucleus analysis and single-cell gel electrophoresis

      CANCER GENETICS AND CYTOGENETICS
    71. Bucci, I; Napolitano, G; Giuliani, C; Lio, S; Minnucci, A; Monaco, F; Di Giacomo, F; Calabrese, G; Palka, G; Sabatino, G
      Letter to the editor

      BIOLOGICAL TRACE ELEMENT RESEARCH
    72. Book, L; Hart, A; Black, J; Feolo, M; Zone, JJ; Neuhausen, SL
      Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study

      AMERICAN JOURNAL OF MEDICAL GENETICS
    73. Marteau, TM; Dormandy, E
      Facilitating informed choice in prenatal testing: How well are we doing?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Cicero, S; Curcio, P; Papageorghiou, A; Sonek, J; Nicolaides, K
      Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study

      LANCET
    75. Adinolfi, M; Sherlock, J
      Prenatal detection of chromosome disorders by QF-PCR

      LANCET
    76. Mann, K; Fox, SP; Abbs, SJ; Yau, SC; Scriven, PN; Docherty, Z; Ogilvie, CM
      Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

      LANCET
    77. Evans, MI; O'Brien, JE; Dvorin, E; Harrison, H; Bui, TH
      Second-trimester biochemical screening

      CLINICS IN PERINATOLOGY
    78. Tager-Flusberg, H
      Understanding the language and communicative impairments in autism

      INTERNATIONAL REVIEW OF RESEARCH IN MENTAL RETARDATION, VOL 23
    79. Seltzer, MM; Krauss, MW; Orsmond, GI; Vestal, C
      Families of adolescents and adults with autism: Uncharted territory

      INTERNATIONAL REVIEW OF RESEARCH IN MENTAL RETARDATION, VOL 23
    80. Inoue, S
      Basement membrane and beta amyloid fibrillogenesis in Alzheimer's disease

      INTERNATIONAL REVIEW OF CYTOLOGY - A SURVEY OF CELL BIOLOGY, VOL 210
    81. Troster, H
      Relationships between siblings with and without disabilities. An overview of research

      ZEITSCHRIFT FUR ENTWICKLUNGSPSYCHOLOGIE UND PADAGOGISCHE PSYCHOLOGIE
    82. Hashimoto, K; Shimizu, T; Shimoya, K; Kanzaki, T; Clapp, JF; Murata, Y
      Fetal cerebellum: US appearance with advancing gestational age

      RADIOLOGY
    83. Ulrich, DA; Ulrich, BD; Angulo-Kinzler, RM; Yun, J
      Treadmill training of infants with down syndrome: Evidence-based developmental outcomes

      PEDIATRICS
    84. Southgate, WM; Annibale, DJ; Hulsey, TC; Purohit, DM
      International experience with trisomy 21 infants placed on extracorporeal membrane oxygenation

      PEDIATRICS
    85. Zoppi, MA; Ibba, RM; Putzolu, M; Floris, M; Monni, G
      Nuchal translucency and the acceptance of invasive prenatal chromosomal diagnosis in women aged 35 and older

      OBSTETRICS AND GYNECOLOGY

    86. Prenatal diagnosis of fetal chromosomal abnormalities

      OBSTETRICS AND GYNECOLOGY
    87. Pierce, BT; Hancock, EG; Kovac, CM; Napolitano, PG; Hume, RF; Calhoun, BC
      Influence of gestational age and maternal height on fetal femur length calculations

      OBSTETRICS AND GYNECOLOGY
    88. Tsuboi, Y; Ahlskog, JE; Apaydin, H; Parisi, JE; Dickson, DW
      Lewy bodies are not increased in progressive supranuclear palsy compared with normal controls

      NEUROLOGY
    89. Schupf, N; Kapell, D; Nightingale, B; Lee, JH; Mohlenhoff, J; Bewley, S; Ottman, R; Mayeux, R
      Specificity of the fivefold increase in AD in mothers of adults with Down syndrome

      NEUROLOGY
    90. Monsonego, A; Maron, R; Zota, V; Selkoe, DJ; Weiner, HL
      Immune hyporesponsiveness to amyloid beta-peptide in amyloid precursor protein transgenic mice: Implications for the pathogenesis and treatment of Alzheimer's disease

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    91. Doty, RL; Mishra, A
      Olfaction and its alteration by nasal obstruction, rhinitis, and rhinosinusitis

      LARYNGOSCOPE
    92. Liang, CL; Lui, CC; Lu, K; Lee, TC; Chen, HJ
      Atlantoaxial stability in ossiculum terminale

      JOURNAL OF NEUROSURGERY
    93. Klein, RC; Siarey, RJ; Caruso, A; Rapoport, SI; Castellino, FJ; Galdzicki, Z
      Increased expression of NR2A subunit does not alter NMDA-evoked responses in cultured fetal trisomy 16 mouse hippocampal neurons

      JOURNAL OF NEUROCHEMISTRY
    94. Mazzola, JL; Sirover, MA
      Reduction of glyceraldehyde-3-phosphate dehydrogenase activity in Alzheimer's disease and in Huntington's disease fibroblasts

      JOURNAL OF NEUROCHEMISTRY
    95. Metze, D; Wigbels, B; Hildebrand, A
      Familial syringoma - a rare clinical variant

      HAUTARZT
    96. Midorikawa, K; Kawanishi, S
      Superoxide dismutases enhance H2O2-induced DNA damage and alter its site specificity

      FEBS LETTERS
    97. Frendo, JL; Therond, P; Bird, T; Massin, N; Muller, F; Guibourdenche, J; Luton, D; Vidaud, M; Anderson, WB; Evain-Brion, D
      Overexpression of copper zinc superoxide dismutase impairs human trophoblast cell fusion and differentiation

      ENDOCRINOLOGY
    98. Liehr, T; Beensen, V; Starke, H; Hauschild, R; Hempell, E; Fritsche, V; Hoppe, C; Grosswendt, G; Prechtel, M; Ziegler, M; Claussen, U; von Eggeling, F
      Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21

      CLINICAL GENETICS
    99. Wachtel, SS; Shulman, LP; Sammons, D
      Fetal cells in maternal blood

      CLINICAL GENETICS
    100. Cassinat, B; Darsin, D; Guardiola, P; Toubert, ME; Rain, JD; Gluckman, E; Schlageter, MH
      Intermethod discordance for alpha-fetoprotein measurements in Fanconi anemia

      CLINICAL CHEMISTRY


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Documento generato il 26/10/20 alle ore 03:53:14