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    1. Thompson, DA; McHenry, CL; Li, Y; Richards, JE; Othman, MI; Schwinger, E; Vollrath, D; Jacobson, SG; Gal, A
      Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome2, with homoallelism for mutations in RPE65 or MERTK, respectively

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Goldberg, MC; Maurer, D; Lewis, TL; Brent, HP
      The influence of binocular visual deprivation on the development of visual-spatial attention

      DEVELOPMENTAL NEUROPSYCHOLOGY
    3. Gunther, DF; Underwood, LE; Calikoglu, AS
      Androgen-accelerated bone maturation in mice is not attenuated by Faslodex, an estrogen receptor blocker

      BONE
    4. Weinreb, M; Machwate, M; Shir, N; Abramovitz, M; Rodan, GA; Harada, S
      Expression of the prostaglandin E-2 (PGE(2)) receptor subtype EP4 and its regulation by PGE(2) in osteoblastic cell lines and adult rat bone tissue

      BONE
    5. van Koningsbruggen, S; Ahrens, F; Brockmann, M; Michalk, D; Rietschel, E
      Congenital cystic adenomatoid malformation type 4

      PEDIATRIC PULMONOLOGY
    6. Nakata, Y; Morikawa, Y; Miura, M; Kawasaki, K; Toyoma, H; Kameyama, K
      Necrotizing tracheobronchitis in patent ductus arteriosus-dependent cyanotic congenital heart disease

      PEDIATRIC PULMONOLOGY
    7. Grech, V; Goldman, A
      Acute respiratory distress syndrome due to cyanotic spell in an infant with tetralogy of fallot

      PEDIATRIC PULMONOLOGY
    8. Davey, MG; Hooper, SB; Cock, ML; Harding, R
      Stimulation of lung growth in fetuses with lung hypoplasia leads to altered postnatal lung structure in sheep

      PEDIATRIC PULMONOLOGY
    9. Bush, A
      Congenital lung disease: A plea for clear thinking and clear nomenclature

      PEDIATRIC PULMONOLOGY
    10. Chinoy, MR; Chi, XL; Cilley, RE
      Down-regulation of regulatory proteins for differentiation and proliferation in murine fetal hypoplastic lungs: Altered mesenchymal-epithelial interactions

      PEDIATRIC PULMONOLOGY
    11. Antonetti, M; Manuck, TA; Schramm, C; Hight, D
      Congenital pulmonary lymphangiectasia: A case report of thoracic duct agenesis

      PEDIATRIC PULMONOLOGY
    12. Messineo, A; Fusaro, F; Mognato, G; Sabatti, M; D'Amore, ESG; Guglielmi, M
      Lung volume reduction surgery in lieu of pneumonectomy in an infant with severe unilateral pulmonary interstitial emphysema

      PEDIATRIC PULMONOLOGY
    13. de Lagausie, P; Van den Abbeele, T; Elmaleh, M; Ferkadji, L; Maintenant, J; Aigrain, Y
      Bronchial trifurcation in a congenital pulmonary venolobar syndrome

      PEDIATRIC PULMONOLOGY
    14. Ozturk, H; Karnak, I; Sakarya, MT; Cetinkursun, S
      Late presentation of Bochdalek hernia: Clinical and radiological aspects

      PEDIATRIC PULMONOLOGY
    15. Piedboeuf, B
      Regulation of alveolar growth

      PEDIATRIC PULMONOLOGY
    16. Harrington, DT; Jordan, BS; Dubick, MA; Cancio, LC; Brinkley, W; Kim, S; Burleson, DG; Delgado, A; Goodwin, CW
      Delayed partial liquid ventilation shows no efficacy in the treatment of smoke inhalation injury in swine

      JOURNAL OF APPLIED PHYSIOLOGY
    17. Kitano, Y; von Allmen, D; Kanai, M; Quinn, TM; Davies, P; Kitano, Y; Flake, AW
      Fetal lung growth after short-term tracheal occlusion is linearly related to intratracheal pressure

      JOURNAL OF APPLIED PHYSIOLOGY
    18. Zdebska, E; Musielak, M; Jaeken, J; Koscielak, J
      Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-la are underglycosylated

      PROTEOMICS
    19. Weerda, H
      Classification and surgery of deformation of the auricle - No. 9

      LARYNGO-RHINO-OTOLOGIE
    20. Pras, E; Pras, E; Bakhan, T; Levy-Nissenbaum, E; Lahat, H; Assia, EI; Garzozi, HJ; Kastner, DL; Goldman, B; Frydman, M
      A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    21. Beeri, M; Haramati, Z; Rein, JJTA; Nir, A
      Parental knowledge and views of pediatric congenital heart disease

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    22. Matitiau, A; Birk, E; Kachko, L; Blieden, LC; Bruckheimer, E
      Transcatheter closure or secundum atrial septal defects with the Amplatzerseptal occluder: Early experience

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    23. Tyagi, S; Kavilaveettil, RJ; Alrefai, WA; Alsafwah, S; Ramaswamy, K; Dudeja, PK
      Evidence for the existence of a distinct SO4---OH- exchange mechanism in the human proximal colonic apical membrane vesicles and its possible role inchloride transport

      EXPERIMENTAL BIOLOGY AND MEDICINE
    24. Eisenman, DJ; Ashbaugh, C; Zwolan, TA; Arts, HA; Telian, SA
      Implantation of the malformed cochlea

      OTOLOGY & NEUROTOLOGY
    25. Sudhoff, H; Linthicum, FH
      Cholesteatoma behind an intact tympanic membrane: Histopathologic evidencefor a tympanic membrane origin

      OTOLOGY & NEUROTOLOGY
    26. Lustig, LR; Arts, HA; Brackmann, DE; Francis, HF; Molony, T; Megerian, CA; Moore, GF; Moore, KM; Morrow, T; Potsic, W; Rubenstein, JT; Srireddy, S; Syms, CA; Takahashi, G; Vernick, D; Wackym, PA; Niparko, JK
      Hearing rehabilitation using the BAHA bone-anchored hearing aid: Results in 40 patients

      OTOLOGY & NEUROTOLOGY
    27. Buckmiller, LM; Brodie, HA; Doyle, KJ; Nemzek, W
      Choristoma of the middle ear: A component of a new syndrome?

      OTOLOGY & NEUROTOLOGY
    28. Smouha, EE; Chen, DQ; Li, B; Liang, ZR
      Computer-aided virtual surgery for congenital aural artresia

      OTOLOGY & NEUROTOLOGY
    29. Kere, J
      Human population genetics: Lessons from Finland

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    30. Leppig, KA; Disteche, CM
      Ring X and other structural X chromosome abnormalities: X inactivation andphenotype

      SEMINARS IN REPRODUCTIVE MEDICINE
    31. Keegan, CE; Killeen, AA
      An overview of molecular diagnosis of steroid 21-hydroxylase deficiency

      JOURNAL OF MOLECULAR DIAGNOSTICS
    32. Richard, E; Mendez, M; Mazurier, F; Morel, C; Costet, P; Xia, P; Fontanellas, A; Geronimi, F; Cario-Andre, M; Taine, L; Ged, C; Malik, P; de Verneuil, H; Moreau-Gaudry, F
      Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection

      MOLECULAR THERAPY
    33. Lin, ZW; deMello, D; Phelps, DS; Koltun, WA; Page, M; Floros, J
      Both human SP-A1 and SP-A2 genes are expressed in small and large intestine

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    34. deMello, DE; Lin, ZW
      Pulmonary alveolar proteinosis: A review

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    35. Pettersen, MD; Ammash, NM; Hagler, DJ; Rihal, CS; Cabalka, AK
      Endovascular stent implantation in a coronary artery to pulmonary artery fistula in a patient with pulmonary atresia with ventricular septal

      CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
    36. Cheatham, JP
      Stenting of coarctation of the aorta

      CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
    37. Fink, C; Peuster, M; Bertram, H; Hausdorf, G
      Transcatheter recanalization of the left main pulmonary artery after four years of complete occlusion

      CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
    38. Lauer, JE; Ritchie, ME
      Three separate coronary artery ostia arising from the right coronary cusp:A case report

      CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
    39. Frias, PA; Johns, JA; Drinkwater, DC; Doyle, TP
      Percutaneous stent placement as treatment for an infant with superior venacava syndrome

      CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
    40. Demkow, M; Ruzyllo, W; Konka, M; Kepka, C; Kowalski, M; Wilczynski, J; Rydlewska-Sadowska, W
      Transvenous closure of moderate and large secundum atrial septal defects in adults using the Amplatzer septal occluder

      CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
    41. Walayat, M; Cooper, SG; Sholler, GF
      Transesophageal echocardiographic guidance of blade atrial septostomy in children

      CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
    42. Eikenboom, JCJ
      Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    43. Mannucci, PM; Federici, AB
      Management of inherited von Willebrand disease

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    44. Langmuir, PB; Aplenc, R; Lange, BJ
      Acute myeloid leukaemia in children

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    45. Boutin, P; Froguel, P
      Genetics of human obesity

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    46. White, PC
      Congenital adrenal hyperplasias

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    47. Connell, JMC; Fraser, R; Davies, E
      Disorders of mineralocorticoid synthesis

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    48. Sanoudou, D; Beggs, AH
      Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments

      TRENDS IN MOLECULAR MEDICINE
    49. Lindsay, EA
      Chromosomal microdeletions: Dissecting del22q11 syndrome

      NATURE REVIEWS GENETICS
    50. Cordes, SP
      Molecular genetics of cranial nerve development in mouse

      NATURE REVIEWS NEUROSCIENCE
    51. Jiang, JY; Imai, Y; Umezu, M; Sato, E
      Characteristics of infertility in female hypothyroid (hyt) mice

      REPRODUCTION
    52. Peters, MAJ; Teerds, KJ; van der Gaag, I; de Rooij, DG; van Sluijs, FJ
      Use of antibodies against LH receptor, 3 beta-hydroxysteroid dehydrogenaseand vimentin to characterize different types of testicular tumour in dogs

      REPRODUCTION
    53. Karnak, I; Buyukpamukcu, N; Tanyel, FC
      The effects of flow rate, length and external pressure upon the pressure required for fluid to flow through a ureter

      BJU INTERNATIONAL
    54. Hsieh, JT; Huang, HE; Chen, J; Chang, HC; Liu, SP
      Modified plication of the tunica albuginea in treating congenital penile curvature

      BJU INTERNATIONAL
    55. Imaji, R; Dewan, PA
      The clinical and radiological findings in boys with endoscopically severe congenital posterior urethral obstruction

      BJU INTERNATIONAL
    56. Tanyel, FC; Ocal, T; Buyukpamukcu, N
      Excessive sac pressures: the pathogenesis and innocence of hydroceles in children

      BJU INTERNATIONAL
    57. Lemberger, RJ; Bishop, MC
      Neovaginoplasty using rectosigmoid colon on a superior rectal artery pedicle

      BJU INTERNATIONAL
    58. Lipsitz, L; Ramsey, DT; Render, JA; Bursian, SJ; Auelrich, RJ
      Persistent fetal intraocular vasculature in the European ferret (Mustela putorius): clinical and histological aspects

      VETERINARY OPHTHALMOLOGY
    59. Gardiner, HM
      Successes and shortcomings of fetal echocardiography

      HOSPITAL MEDICINE
    60. O'Donnell, BA; Adenis, JP; Linberg, JV; Rose, GE; Sullivan, TJ; Wobig, JL
      The failed probing

      CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    61. Chia, WLA; Martin, F
      Childhood cataracts

      CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    62. Romano, PE
      Prepapillary vascular loops

      CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    63. Griesmacher, A; Peichl, P
      Autoantibodies associated with rheumatic diseases

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    64. Tredano, M; de Blic, J; Griese, M; Fournet, JC; Elion, J; Bahuau, M
      Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    65. Vuillaumier-Barrot, S; Le Bizec, C; Durand, G; Seta, N
      The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

      JOURNAL OF HUMAN GENETICS
    66. Cao, H; Yuen, J; Hegele, RA
      Single nucleotide polymorphisms of the fukutin gene

      JOURNAL OF HUMAN GENETICS
    67. Asaka, T; Ikeuchi, K; Okino, S; Takizawa, Y; Satake, R; Nitta, E; Komai, K; Endo, K; Higuchi, S; Oyake, T; Yoshimura, T; Suenaga, A; Uyama, E; Saito, T; Konagaya, M; Sunohara, N; Namba, R; Takada, H; Honke, K; Nishina, M; Tanaka, H; Shinagawa, M; Tanaka, K; Matsushima, A; Tsuji, S; Takamori, M
      Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

      JOURNAL OF HUMAN GENETICS
    68. Li, N; Sokal, I; Bronson, JD; Palczewski, K; Baehr, W
      Identification of functional regions of guanylate cyclase-activating protein 1 (GCAP1) using GCAP1/GCIP chimeras

      BIOLOGICAL CHEMISTRY
    69. Brunisholz, Y; Vial, Y; Maillard-Brignon, C; Meyrat, BJ; Frey, P; Hohlfeld, P
      Prenatal diagnosis of urinary malformations: results in a series of 93 consecutive cases

      SWISS MEDICAL WEEKLY
    70. Corno, AF; Goy, JJ; Hurni, M; Payot, M; Sekarski, N; von Segesser, LK
      Treatment of congenital aortic valve stenosis: impact of the Ross operation

      SWISS MEDICAL WEEKLY
    71. Vial, Y; Tran, C; Addor, MC; Hohlfeld, P
      Screening for foetal malformations: performance of routine ultrasonographyin the population of the Swiss Canton of Vaud

      SWISS MEDICAL WEEKLY
    72. Corno, AF; von Segesser, LK
      Transposition of great arteries and single coronary artery: a new surgicaltechnique for the arterial switch operation

      SWISS MEDICAL WEEKLY
    73. Kamm, M; Burger, R; Rimensberger, P; Knoblauch, A; Hammer, J
      Survey of children supported by long-term mechanical ventilation in Switzerland

      SWISS MEDICAL WEEKLY
    74. Kopp, P
      The TSH receptor and its role in thyroid disease

      CELLULAR AND MOLECULAR LIFE SCIENCES
    75. Schachter, H
      Congenital disorders involving defective N-glycosylation of proteins

      CELLULAR AND MOLECULAR LIFE SCIENCES
    76. Alayunt, A; Yagdi, T; Alat, I; Posacioglu, H; Buket, S
      Left ventricular diverticulum associated with Cantrell's syndrome and tetralogy of Fallot in an adult

      SCANDINAVIAN CARDIOVASCULAR JOURNAL
    77. O'Reilly, J; Lanigan, B; O'Keefe, M
      Long-term visual results following primary trabeculectomy for infantile glaucoma

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    78. Fahnehjelm, KT; Ygge, J; Engman, ML; Mosskin, M; Santavuori, P; Malm, G
      A child with Muscle-Eye-Brain disease - Ophthalmological and neurological characteristics

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    79. Foltys, H; Sparing, R; Boroojerdi, B; Krings, T; Meister, IG; Mottaghy, FM; Topper, R
      Motor control in simple bimanual movements: a transcranial magnetic stimulation and reaction time study

      CLINICAL NEUROPHYSIOLOGY
    80. Celesia, GG
      Disorders of membrane channels or channelopathies

      CLINICAL NEUROPHYSIOLOGY
    81. Utsuki, T; Hashizume, K; Iwamori, M
      Impaired spreading of surfactant phospholipids in the lungs of newborn rats with pulmonary hypoplasia as a model of congenital diaphragmatic hernia induced by nitrofen

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
    82. Grangeot-Keros, L; Cointe, D
      Diagnosis and prognostic markers of HCMV infection

      JOURNAL OF CLINICAL VIROLOGY
    83. Barbi, M; Binda, S; Caroppo, S; Primache, V; Dido, P; Guidotti, P; Corbetta, C; Melotti, D
      CMV gB genotypes and outcome of vertical transmission: study on dried blood spots of congenitally infected babies

      JOURNAL OF CLINICAL VIROLOGY
    84. Dasgupta, C; Martinez, AM; Zuppan, CW; Shah, MM; Bailey, LL; Fletcher, WH
      Identification of connexin43 (alpha 1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    85. Jungmann, EM; Mercey, D; DeRuiter, A; Edwards, S; Donoghue, S; Booth, T; Mohan, D; Lyall, H; Taylor, GP
      Is first trimester exposure to the combination of antiretroviral therapy and folate antagonists a risk factor for congenital abnormalities?

      SEXUALLY TRANSMITTED INFECTIONS
    86. Starcevic, V; Djelmis, J; Ivanisevic, M; Mayer, D
      The effect of glycemia on early embryonic development in diabetic pregnancies

      PRENATAL AND NEONATAL MEDICINE
    87. Sahinoglu, Z; Uludogan, M; Gurbuz, A; Kol, E
      Prenatal detection of fetal anomalies by ultrasonography in the second trimester: Our first results from Turkey

      PRENATAL AND NEONATAL MEDICINE
    88. Panagopoulos, P; Kanellopoulos, N; Deligeoroglou, E; Economou, A; Botsis, D
      Prenatal diagnosis of congenital bladder diverticulum

      PRENATAL AND NEONATAL MEDICINE
    89. Huggon, IC
      Practical guide to fetal echocardiography

      PRENATAL AND NEONATAL MEDICINE
    90. Di Donato, F; Chan, EKL; Askanase, AD; Miranda-Carus, ME; Buyon, JP
      Interaction between 52 kDa SSA/Ro and deubiquitinating enzyme UnpEL: a clue to function

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    91. Rovet, JF; Hepworth, S
      Attention problems in adolescents with congenital hypothyroidism: A multicomponential analysis

      JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
    92. Leneman, M; Buchanan, L; Rovet, J
      Where and what visuospatial processing in adolescents with congenital hypothyroidism

      JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
    93. Budts, W; Van Pelt, N; Gillyns, H; Gewillig, M; van de Werf, F; Janssens, S
      Residual pulmonary vasoreactivity to inhaled nitric oxide in patients withsevere obstructive pulmonary hypertension and Eisenmenger syndrome

      HEART
    94. Peuster, M; Wohlsein, P; Brugmann, M; Ehlerding, M; Seidler, K; Fink, C; Brauer, H; Fischer, A; Hausdorf, G
      A novel approach to temporary stenting: degradable cardiovascular stents produced from corrodible metal - results 6-18 months after implantation intoNew Zealand white rabbits

      HEART
    95. Tulevski, II; Groenink, M; van der Wall, EE; van Veldhuisen, DJ; Boomsma, F; Stoker, J; Hirsch, A; Lemkes, JS; Mulder, BJM
      Increased brain and atrial natriuretic peptides in patients with chronic right ventricular pressure overload: correlation between plasma neurohormones and right ventricular dysfunction

      HEART
    96. Saliba, Z; Butera, G; Bonnet, D; Bonhoeffer, P; Villain, E; Kachaner, J; Sidi, D; Iserin, L
      Quality of life and perceived health status in surviving adults with univentricular heart

      HEART
    97. Moons, P; De Volder, E; Budts, W; De Geest, S; Elen, J; Waeytens, K; Gewillig, M
      What do adult patients with congenital heart disease know about their disease, treatment, and prevention of complications? A call for structured patient education

      HEART
    98. Gardiner, HM
      Fetal echo cardiography: 20 years of progress

      HEART
    99. Wray, J; Sensky, T
      Congenital heart disease and cardiac surgery in childhood: effects on cognitive function and academic ability

      HEART
    100. Harrison, DA; McLaughlin, PR; Lazzam, C; Connelly, M; Benson, LN
      Endovascular stents in the management of coarctation of the aorta in the adolescent and adult: one year follow up

      HEART


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Documento generato il 10/08/20 alle ore 14:13:53