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La ricerca find articoli where soggetti phrase all words 'Down syndrome' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 1522 riferimenti
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    1. Saglani, S; Bush, A
      Cystic fibrosis and Down's syndrome: Not always a poor prognosis

      PEDIATRIC PULMONOLOGY
    2. Hoch, B; Barth, H
      Cheyne-Stokes respiration as an additional risk factor for pulmonary hypertension in a boy with trisomy 21 and atrioventricular septal defect

      PEDIATRIC PULMONOLOGY
    3. Hall, GW
      Childhood myeloid leukaemias

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    4. Hassold, T; Hunt, P
      To ERR (meiotically) is human: The genesis of human aneuploidy

      NATURE REVIEWS GENETICS
    5. Yu, YJ; Bradley, A
      Engineering chromosomal rearrangements in mice

      NATURE REVIEWS GENETICS
    6. Antsaklis, AJ; Papantoniou, NE; Daskalakis, GJ; Mesogitis, SA; Kitmirides, SJ; Michalas, SS
      False positive serum biochemical screening and subsequent fetal loss in women less than 35 years of age

      BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
    7. Akbas, SH; Ozben, T; Alper, O; Ugur, A; Yucel, G; Luleci, G
      Maternal serum screening for Down's syndrome, open neural tube defects andtrisomy 18

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    8. Jyothy, A; Kumar, KSD; Rao, GNM; Rao, VB; Devi, BU; Sujatha, M; Reddy, PP
      Parental age and the origin of extra chromosome 21 in Down syndrome

      JOURNAL OF HUMAN GENETICS
    9. Kazuki, Y; Shinohara, T; Tomizuka, K; Katoh, M; Ohguma, A; Ishida, I; Oshimura, M
      Germline transmission of a transferred human chromosome 21 fragment in transchromosomal mice

      JOURNAL OF HUMAN GENETICS
    10. Yoo, BC; Cairns, N; Fountoulakis, M; Lubec, G
      Synaptosomal proteins, beta-soluble N-ethylmaleimide-sensitive factor attachment protein (beta-SNAP), gamma-SNAP and synaptotagmin 1 in brain of patients with Down syndrome and Alzheimer's disease

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    11. Jensen, E; Bengtsson, A; Berggren, H; Ekroth, R; Andreasson, S
      Clinical variables and pro-inflammatory activation in paediatric heart surgery

      SCANDINAVIAN CARDIOVASCULAR JOURNAL
    12. Haugen, OH; Hovding, G
      Strabismus and binocular function in children with Down syndrome. A population-based, longitudinal study

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    13. Simmerman, S; Blacher, J; Baker, BL
      Fathers' and mothers' perceptions of father involvement in families with young children with a disability

      JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
    14. Debieve, F; Moiset, A; Thomas, K; Pampfer, S; Hubinont, C
      Vascular endothelial growth factor and placenta growth concentrations in Down's syndrome and control pregnancies

      MOLECULAR HUMAN REPRODUCTION
    15. Walsh, PN; Heller, T; Schupf, N; Lantman-de Valk, HV
      Healthy ageing - Adults with intellectual disabilities: Women's health andrelated issues

      JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
    16. Papagno, C; Vallar, G
      Understanding metaphors and idioms: A single-case neuropsychological studyin a person with Down syndrome

      JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
    17. Lansac, J; Royere, D
      Follow-up studies of children born after frozen sperm donation

      HUMAN REPRODUCTION UPDATE
    18. Komatsu, T; Kubota, E; Sakai, N
      Enhancement of matrix metalloproteinase (MMP)-2 activity in gingival tissue and cultured fibroblasts from Down's syndrome patients

      ORAL DISEASES
    19. Zamerowski, ST; Lumley, MA; Arreola, RA; Dukes, K; Sullivan, L
      Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood

      GENETICS IN MEDICINE
    20. Barlow, GM; Chen, XN; Shi, ZY; Lyons, GE; Kurnit, DM; Celle, L; Spinner, NB; Zackai, E; Pettenati, MJ; Van Riper, AJ; Vekemans, MJ; Mjaatvedt, CH; Korenberg, JR
      Down syndrome congenital heart disease: A narrowed region and a candidate gene

      GENETICS IN MEDICINE
    21. Scherer, NJ; D'Antonio, LL; Rodgers, JR
      Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome

      GENETICS IN MEDICINE
    22. Berglund, E; Eriksson, M; Johansson, I
      Parental reports of spoken language skills in children with Down syndrome

      JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
    23. Gulesserian, T; Seidl, R; Hardmeier, R; Cairns, N; Lubec, G
      Superoxide dismutase SOD1, encoded on chromosome 21, but not SOD2 is overexpressed in brains of patients with Down Syndrome

      JOURNAL OF INVESTIGATIVE MEDICINE
    24. Kaiser, AP; Hester, PP; McDuffie, AS
      Supporting communication in young children with developmental disabilities

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    25. Roizen, NJ
      Down syndrome: Progress in research

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    26. Abbeduto, L; Evans, J; Dolan, T
      Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    27. Taub, JW
      Relationship of chromosome 21 and acute leukemia in children with Down syndrome

      JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
    28. Jacobson, JW
      Environmental postmodernism and rehabilitation of the borderline of mentalretardation

      BEHAVIORAL INTERVENTIONS
    29. Jan, WM; Kennedy, JG; Dowling, FE; Fogarty, EE; Moore, D
      Bilateral wrist dislocation in trisomy 21: A case report

      JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B
    30. 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
    31. 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
    32. Farkas, LG; Katic, MJ; Forrest, CR
      Surface anatomy of the face in Down's syndrome: Anthropometric proportion indices in the craniofacial regions

      JOURNAL OF CRANIOFACIAL SURGERY
    33. Farkas, LG; Katic, MJ; Forrest, CR; Litsas, L
      Surface anatomy of the face in Down's syndrome: Linear and angular measurements in the craniofacial regions

      JOURNAL OF CRANIOFACIAL SURGERY
    34. Edwards, AJ; Ring, NJ; Marshall, AJ
      Massive pericardial effusion with left-to-right intracardiac shunt

      CARDIOLOGY IN THE YOUNG
    35. Starreveld, JS; van Rossum, AC; Hruda, J
      Rapid formation of collateral arteries in a neonate with interruption of the aortic arch

      CARDIOLOGY IN THE YOUNG
    36. Busson-Le Coniat, M; Khac, FN; Daniel, MT; Bernard, OA; Berger, R
      Chromosome 21 abnormalities with AMLI amplification in acute lymphoblasticleukemia

      GENES CHROMOSOMES & CANCER
    37. Sepulveda, W; Lopez-Tenorio, J
      The value of minor ultrasound markers for fetal aneuploidy

      CURRENT OPINION IN OBSTETRICS & GYNECOLOGY
    38. Bosch, M; Rajmil, O; Martinez-Pasarell, O; Egozcue, J; Templado, C
      Linear increase of diploidy in human sperm with age: A four-colour FISH study

      EUROPEAN JOURNAL OF HUMAN GENETICS
    39. Niemimaa, M; Suonpaa, M; Perheentupa, A; Seppala, M; Heinonen, S; Laitinen, P; Ruokonen, A; Ryynanen, M
      Evaluation of first trimester maternal serum and ultrasound screening for Down's syndrome in Eastern and Northern Finland

      EUROPEAN JOURNAL OF HUMAN GENETICS
    40. 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
    41. Garne, E; Berghold, A; Johnson, Z; Stoll, C
      Different policies on prenatal ultrasound screening programmes and inducedabortions explain regional variations in infant mortality with congenital malformations

      FETAL DIAGNOSIS AND THERAPY
    42. Bon, GG; Kenemans, P; Verstraeten, AA; Go, S; Philipi, PA; van Kamp, GJ; van Geijn, HP; van Vugt, JMG
      Maternal serum CA125 and CA15-3 antigen levels in normal and pathological pregnancy

      FETAL DIAGNOSIS AND THERAPY
    43. Miyakoshi, K; Tanaka, M; Gabionza, D; Ishimoto, H; Miyazaki, T; Yoshimura, Y
      Prediction of smallness for gestational age by maternal serum human chorionic gonadotropin levels and by uterine artery Doppler study

      FETAL DIAGNOSIS AND THERAPY
    44. Park, SY; Kim, JW; Kim, YM; Kim, JM; Lee, MH; Lee, BY; Han, JY; Kim, MY; Yang, JH; Ryu, HM
      Frequencies of fetal chromosomal abnormalities at prenatal diagnosis: 10 years experiences in a single institution

      JOURNAL OF KOREAN MEDICAL SCIENCE
    45. Head, E; Garzon-Rodriguez, W; Johnson, JK; Lott, IT; Cotman, CW; Glabe, C
      Oxidation of a beta and plaque biogenesis in Alzheimer's disease and Down syndrome

      NEUROBIOLOGY OF DISEASE
    46. Alderson, P
      Prenatal screening, ethics and Down's syndrome: A literature review

      NURSING ETHICS
    47. Christiansen, M; Larsen, SO
      Precision of risk in multidimensional likelihood ratio based screening with first trimester screening for Down's syndrome as a special case

      JOURNAL OF MEDICAL SCREENING
    48. Knight, GJ; Palomaki, GE; Neveux, LM; Haddow, JE; Lambert-Messerlian, GM
      Clinical validation of a new dimeric inhibin-A assay suitable for second trimester Down's syndrome screening

      JOURNAL OF MEDICAL SCREENING
    49. Olsson, MB; Hwang, CP
      Depression in mothers and fathers of children with intellectual disability

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    50. Warburg, M
      Visual impairment in adult people with intellectual disability: Literaturereview

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    51. Nelson, LD; Orme, D; Osann, K; Lott, IT
      Neurological changes and emotional functioning in adults with Down Syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    52. Dodd, B; Thompson, L
      Speech disorder in children with Down's syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    53. McCarthy, J; Boyd, J
      Psychopathology and young people with Down's syndrome: childhood predictors and adult outcome of disorder

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    54. Numminen, H; Service, E; Ahonen, T; Ruoppila, I
      Working memory and everyday cognition in adults with Down's syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    55. Seltzer, GB; Schupf, N; Wu, HS
      A prospective study of menopause in women with Down's syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    56. Temple, V; Jozsvai, E; Konstantareas, MM; Hewitt, TA
      Alzheimer dementia in Down's syndrome: the relevance of cognitive ability

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    57. Glenn, SM; Cunningham, CC; Dayus, B
      Comparison of the 1969 and 1993 standardizations of the Bayley Mental Scales of Infant Development for infants with Down's syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    58. Paul, C; Krampl, E; Skentou, C; Jurkovic, D; Nicolaides, KH
      Measurement of fetal nuchal translucency thickness by three-dimensional ultrasound

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    59. Degani, S; Leibovitz, Z; Shapiro, I; Gonen, R; Ohel, G
      Cardiac function in fetuses with intracardiac echogenic foci

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    60. Lee, W; Blanckaert, K; Bronsteen, RA; Huang, R; Romero, R
      Fetal iliac angle measurements by three-dimensional sonography

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    61. Audibert, F; Dommergues, M; Benattar, C; Taieb, J; Thalabard, JC; Frydman, R
      Screening for Down syndrome using first-trimester ultrasound and second-trimester maternal serum markers in a low-risk population: a prospective longitudinal study

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    62. Vinkesteijn, ASM; Jansen, CLR; Los, FJ; Mulder, PGH; Wladimiroff, JW
      Fetal transcerebellar diameter and chromosomal abnormalities

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    63. 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
    64. 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
    65. Smith-Bindman, R; Hosmer, WD; Caponigro, M; Cunningham, G
      The variability in the interpretation of prenatal diagnostic ultrasound

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    66. Chudleigh, PM; Chitty, LS; Pembrey, M; Campbell, S
      The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    67. Bilardo, CM
      Increased nuchal translucency and normal karyotype: coping with uncertainty

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    68. Levett, LJ; Liddle, S; Meredith, R
      A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    69. Huggon, IC; Cook, AC; Simpson, JM; Smeeton, NC; Sharland, GK
      Isolated echogenic foci in the fetal heart as marker of chromosomal abnormality

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    70. Patel, BN; Seltzer, GB; Wu, HS; Schupf, N
      Effect of menopause on cognitive performance in women with Down syndrome

      NEUROREPORT
    71. Graef, IA; Chen, F; Crabtree, GR
      NFAT signaling in vertebrate development

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    72. Antonarakis, SE
      Chromosome 21: from sequence to applications

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    73. Carnicer, J; Farre, C; Varea, V; Vilar, P; Moreno, J; Artigas, J
      Prevalence of coeliac disease in Down's syndrome

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    74. Blacher, J; Hatton, C
      Current perspectives on family research in mental retardation

      CURRENT OPINION IN PSYCHIATRY
    75. Cento, RM; Proto, C; Guido, M; Lanzone, A
      Postmenarchal Down's syndrome: a theoretical model of growth hormone action on ovarian function

      GYNECOLOGICAL ENDOCRINOLOGY
    76. Rosch, C; Steinbicker, V; Robra, BP; Kolbe, M; Heinrich, C
      Prevention of congenital malformations by means of folic acid - Insurmountable problems due to the German penal code and German drug legislation whenpreparing a preconceptional model in Saxony-Anhalt

      GESUNDHEITSWESEN
    77. Bajo, M; Yoo, BC; Cairns, N; Gratzer, M; Lubec, G
      Neurofilament proteins NF-L, NF-M and NF-H in brain of patients with Down syndrome and Alzheimer's disease

      AMINO ACIDS
    78. Choi, DK; Suzuki, Y; Yoshimura, S; Togashi, T; Hida, M; Taylor, TD; Wang, YP; Sugano, S; Hattori, M; Sakaki, Y
      Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome critical region gene 5)

      MAMMALIAN GENOME
    79. Paz-Miguel, JE; de Villena, FPM; Sanchez-Velasco, P; Leyva-Cobian, F
      H2-haplotype-dependent unequal transmission of the 17(16) translocation chromosome from Ts65Dn females

      MAMMALIAN GENOME
    80. Filler, G; Kotecha, S; Milanska, J; Lawson, ML
      Trisomy 21 with hypercalcemia, hypercalciuria, medullary calcinosis and renal failure - a syndrome?

      PEDIATRIC NEPHROLOGY
    81. Tsai, MS; Huang, YY; Hwa, KY; Cheng, CC; Lee, FK
      Combined measurement of fetal nuchal translucency, material serum free beta-HCG, and pregnancy-associated plasma protein A for first-trimester Down'ssyndrome screening

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    82. Jou, HJ; Shih, JC; Wu, SC; Li, TC; Tzeng, CY; Hsieh, FJ
      First-trimester Down's syndrome screening by fetal nuchal translucency measurement in Taiwan

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    83. Munoz-Perez, MA; Camacho, F
      Acanthosis nigricans: A new cutaneous sign in severe atopic dermatitis andDown syndrome

      JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
    84. Casas, C; Martinez, S; Pritchard, MA; Fuentes, JJ; Nadal, M; Guimera, J; Arbones, M; Florez, J; Soriano, E; Estivill, X; Alcantara, S
      Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressedin the primitive ventricle of the heart and during neurogenesis

      MECHANISMS OF DEVELOPMENT
    85. Cardoso-Martins, C; Frith, U
      Can individuals with Down syndrome acquire alphabetic literacy skills in the absence of phoneme awareness ?

      READING AND WRITING
    86. Norgaard, JM; Langkjer, ST; Palshof, T; Pedersen, B; Hokland, P
      Pretreatment leukaemia cell drug resistance is correlated to clinical outcome in acute myeloid leukaemia

      EUROPEAN JOURNAL OF HAEMATOLOGY
    87. Sakellari, D; Belibasakis, G; Chadjipadelis, T; Arapostathis, K; Konstantinidis, A
      Supragingival and subgingival microbiota of adult patients with Down's syndrome. Changes after periodontal treatment

      ORAL MICROBIOLOGY AND IMMUNOLOGY
    88. Roberts, JE; Mirrett, P; Burchinal, M
      Receptive and expressive communication development of young males with fragile X syndrome

      AMERICAN JOURNAL ON MENTAL RETARDATION
    89. Balboni, G; Pedrabissi, L; Molteni, M; Villa, S
      Discriminant validity of the vineland scales: Score profiles of individuals with mental retardation and a specific disorder

      AMERICAN JOURNAL ON MENTAL RETARDATION
    90. Hodapp, RM; Dykens, EM
      Strengthening behavioral research on genetic mental retardation syndromes

      AMERICAN JOURNAL ON MENTAL RETARDATION
    91. Mervis, CB; Klein-Tasman, BP; Mastin, ME
      Adaptive behavior of 4-through 8-year-old children with Williams syndrome

      AMERICAN JOURNAL ON MENTAL RETARDATION
    92. Dykens, EM; Rosner, BA; Ly, TM
      Drawings by individuals with Williams syndrome: Are people different from shapes?

      AMERICAN JOURNAL ON MENTAL RETARDATION
    93. Koudinov, AR; Koudinova, NV
      Essential role for cholesterol in synaptic plasticity and neuronal degeneration

      FASEB JOURNAL
    94. Muchova, J; Sustrova, M; Garaiova, I; Liptakova, A; Blazicek, P; Kvasnicka, P; Pueschel, S; Durackova, Z
      Influence of age on activities of antioxidant enzymes and lipid peroxidation products in erythrocytes and neutrophils of Down syndrome patients

      FREE RADICAL BIOLOGY AND MEDICINE
    95. 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
    96. Reymond, A; Friedli, M; Henrichsen, CN; Chapot, F; Deutsch, S; Ucla, C; Rossier, C; Lyle, R; Guipponi, M; Antonarakis, SE
      From PREDs and open reading frames to cDNA isolation: Revisiting the humanchromosome 21 transcription map

      GENOMICS
    97. Davisson, MT; Bechtel, LJ; Akeson, EC; Fortna, A; Slavov, D; Gardiner, K
      Evolutionary breakpoints on human chromosome 21

      GENOMICS
    98. Pletcher, MT; Wiltshire, T; Cabin, DE; Villanueva, M; Reeves, RH
      Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21

      GENOMICS
    99. Lawlor, BA; McCarron, M; Wilson, G; McLoughlin, M
      Temporal lobe-oriented CT scanning and dementia in Down's syndrome

      INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY
    100. Simard, M; van Reekum, R
      Dementia with lewy bodies in Down's syndrome

      INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY


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Documento generato il 06/08/20 alle ore 18:23:20