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1. Unay, B; Sarici, SU; Gul, D; Akin, R; Gokcay, E
   Adams-Oliver syndrome: further evidence for autosomal recessive inheritance
   CLINICAL DYSMORPHOLOGY
   
   B. Unay et al., "Adams-Oliver syndrome: further evidence for autosomal recessive inheritance", CLIN DYSMOR, 10(3), 2001, pp. 223-225
2. Mahafza, T; El-Shanti, H; Omari, H
   Raine syndrome: report of a case with hand and foot anomalies
   CLINICAL DYSMORPHOLOGY
   
   T. Mahafza et al., "Raine syndrome: report of a case with hand and foot anomalies", CLIN DYSMOR, 10(3), 2001, pp. 227-229
3. Vivarelli, R; Grosso, S; Cioni, M; Galluzzi, P; Monti, L; Morgese, G; Balestri, P
   Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria
   BRAIN & DEVELOPMENT
   
   R. Vivarelli et al., "Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria", BRAIN DEVEL, 23(1), 2001, pp. 18-23
4. Abdel-Salam, GMH; Svekus, A; Pelle, Z; Halasz, AA; Czeizel, AE
   Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome
   GENETIC COUNSELING
   
   G.M.H. Abdel-Salam et al., "Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome", GEN COUNSEL, 11(4), 2000, pp. 391-397
5. Coley, BD; Rusin, JA; Boue, DR
   Importance of hypoxic/ischemic conditions in the development of cerebral lenticulostriate vasculopathy
   PEDIATRIC RADIOLOGY
   
   B.D. Coley et al., "Importance of hypoxic/ischemic conditions in the development of cerebral lenticulostriate vasculopathy", PEDIAT RAD, 30(12), 2000, pp. 846-855
6. Dale, RC; Tang, SP; Heckmatt, JZ; Tatnall, FM
   Familial systemic lupus erythematosus and congenital infection-like syndrome
   NEUROPEDIATRICS
   
   R.C. Dale et al., "Familial systemic lupus erythematosus and congenital infection-like syndrome", NEUROPEDIAT, 31(3), 2000, pp. 155-158
7. Adderson, EE; Viskochil, DH; Carey, JC; Shigeoka, AO; Christenson, JC; Bohnsack, JF; Hill, HR
   Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: A genetic syndrome?
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   E.E. Adderson et al., "Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: A genetic syndrome?", AM J MED G, 95(1), 2000, pp. 17-20
8. Fernandez-Bouzas, A; Ballesteros-Maresma, A; Casian, G; Hernandez-Martinez, P; Martinez-Lopez, M
   Calcification of intracranial vessels in neurocysticercosis
   NEURORADIOLOGY
   
   A. Fernandez-Bouzas et al., "Calcification of intracranial vessels in neurocysticercosis", NEURORADIOL, 42(7), 2000, pp. 522-525
9. Iglesias, S; Chapon, F; Baron, JC
   Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia
   NEUROLOGY
   
   S. Iglesias et al., "Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia", NEUROLOGY, 55(11), 2000, pp. 1661-1667
10. Crow, YJ; Jackson, AP; Roberts, E; van Beusekom, E; Barth, P; Corry, P; Ferrie, CD; Hamel, BCJ; Jayatunga, R; Karbani, G; Kalmanchey, R; Kelemen, A; King, M; Kumar, R; Livingstone, J; Massey, R; McWilliam, R; Meager, A; Rittey, C; Stephenson, JBP; Tolmie, JL; Verrips, A; Voit, T; van Bokhoven, H; Brunner, HG; Woods, CG
    Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    Y.J. Crow et al., "Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21", AM J HU GEN, 67(1), 2000, pp. 213-221
11. Cassidy, L; Taylor, D
    Congenital cataract and multisystem disorders
    EYE
    
    L. Cassidy e D. Taylor, "Congenital cataract and multisystem disorders", EYE, 13, 1999, pp. 464-473
12. Ostergaard, JR; Christensen, T; Nehen, AM
    A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome
    NEUROPEDIATRICS
    
    J.R. Ostergaard et al., "A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome", NEUROPEDIAT, 30(1), 1999, pp. 38-41
13. Al-Gazali, LI; Sztriha, L; Dawodu, A; Varady, E; Bakir, M; Khdir, A; Johansen, J
    Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes
    JOURNAL OF MEDICAL GENETICS
    
    L.I. Al-Gazali et al., "Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes", J MED GENET, 36(6), 1999, pp. 461-466
14. Faure, S; Bordelais, I; Marquette, C; Rittey, C; Campos-Castello, J; Goutieres, F; Ponsot, G; Weissenbach, J; Lebon, P
    Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
    CLINICAL GENETICS
    
    S. Faure et al., "Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?", CLIN GENET, 56(2), 1999, pp. 149-153
15. TRUNG L; LONG L; TU N; LONG NT; NGA NT; VANSON T; BICH DN; HOA NT
    BRAIN-TUMORS IN HO CHI MINH CITY
    Journal of clinical neuroscience
    
    L. Trung et al., "BRAIN-TUMORS IN HO CHI MINH CITY", Journal of clinical neuroscience, 5(4), 1998, pp. 421-422
16. ALDABBOUS R; SABRY MA; FARAH S; ALAWADI SA; SIMEONOV S; FARAG TI
    THE AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE - REPORT OF ANOTHER BEDOUIN FAMILY
    Clinical dysmorphology
    
    R. Aldabbous et al., "THE AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE - REPORT OF ANOTHER BEDOUIN FAMILY", Clinical dysmorphology, 7(2), 1998, pp. 127-130
17. Goutieres, F; Aicardi, J; Barth, PG; Lebon, P
    Aicardi-Goutieres syndrome: An update and results of interferon-alpha studies
    ANNALS OF NEUROLOGY
    
    F. Goutieres et al., "Aicardi-Goutieres syndrome: An update and results of interferon-alpha studies", ANN NEUROL, 44(6), 1998, pp. 900-907
18. KUMAR D; RITTEY C; CAMERON AH; VARIEND S
    RECOGNIZABLE INHERITED SYNDROME OF PROGRESSIVE CENTRAL-NERVOUS-SYSTEMDEGENERATION AND GENERALIZED INTRACRANIAL CALCIFICATION WITH OVERLAPPING PHENOTYPE OF THE SYNDROME OF AICARDI AND GOUTIERES
    American journal of medical genetics
    
    D. Kumar et al., "RECOGNIZABLE INHERITED SYNDROME OF PROGRESSIVE CENTRAL-NERVOUS-SYSTEMDEGENERATION AND GENERALIZED INTRACRANIAL CALCIFICATION WITH OVERLAPPING PHENOTYPE OF THE SYNDROME OF AICARDI AND GOUTIERES", American journal of medical genetics, 75(5), 1998, pp. 508-515
19. JACQUEMIN C; MULLANEY P; SVEDBERG E
    MARBLE BRAIN-SYNDROME - OSTEOPETROSIS, RENAL ACIDOSIS AND CALCIFICATION OF THE BRAIN
    Neuroradiology
    
    C. Jacquemin et al., "MARBLE BRAIN-SYNDROME - OSTEOPETROSIS, RENAL ACIDOSIS AND CALCIFICATION OF THE BRAIN", Neuroradiology, 40(10), 1998, pp. 662-663
20. OHTAGAKI A; HARA T; MAEGAKI Y; TAKESHITA K
    INTRACRANIAL CALCIFICATIONS, EPILEPSY, AND OPTIC ATROPHY ASSOCIATED WITH METAPHYSEAL DYSPLASIA - A CASE-REPORT
    Brain & development
    
    A. Ohtagaki et al., "INTRACRANIAL CALCIFICATIONS, EPILEPSY, AND OPTIC ATROPHY ASSOCIATED WITH METAPHYSEAL DYSPLASIA - A CASE-REPORT", Brain & development, 19(6), 1997, pp. 414-417
21. BERENGUER J; BLASCO J; CARDENAL C; PUJOL T; PRADO MJC; HERRERO C; MASCARO JM; DELATORRE C; MERCADER JM
    HEPATOERYTHROPOIETIC PORPHYRIA - NEUROIMAGING FINDINGS
    American journal of neuroradiology
    
    J. Berenguer et al., "HEPATOERYTHROPOIETIC PORPHYRIA - NEUROIMAGING FINDINGS", American journal of neuroradiology, 18(8), 1997, pp. 1557-1560
22. ZAKI M; ISMAIL EAR; NADI HM; ELDIN AN
    RECURRENT DEHYDRATION IN A YOUNG GIRL
    Postgraduate medical journal
    
    M. Zaki et al., "RECURRENT DEHYDRATION IN A YOUNG GIRL", Postgraduate medical journal, 73(860), 1997, pp. 367-369
23. CLEMENTS WDB; RICE P; HARVEY C
    EXCESS ADIPOSE AND HEARTBURN
    Postgraduate medical journal
    
    W.D.B. Clements et al., "EXCESS ADIPOSE AND HEARTBURN", Postgraduate medical journal, 73(860), 1997, pp. 369-371
24. HOEKSTRA JA; VANLIEBURG AF; MONNENS LAH; HULSTIJNDIRKMAAT GM; KNOERS VVAM
    COGNITIVE AND PSYCHOSOCIAL FUNCTIONING OF PATIENTS WITH CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS
    American journal of medical genetics
    
    J.A. Hoekstra et al., "COGNITIVE AND PSYCHOSOCIAL FUNCTIONING OF PATIENTS WITH CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS", American journal of medical genetics, 61(1), 1996, pp. 81-88
25. TEMTAMY SA; MEGUID NA; MAHMOUD A; AFIFI HH; GERZAWY A; ZAKI MS
    COFS SYNDROME WITH FAMILIAL 1-16-TRANSLOCATION
    Clinical genetics
    
    S.A. Temtamy et al., "COFS SYNDROME WITH FAMILIAL 1-16-TRANSLOCATION", Clinical genetics, 50(4), 1996, pp. 240-243
26. CALLENDER JS
    NONPROGRESSIVE FAMILIAL IDIOPATHIC INTRACRANIAL CALCIFICATION - A FAMILY REPORT
    Journal of Neurology, Neurosurgery and Psychiatry
    
    J.S. Callender, "NONPROGRESSIVE FAMILIAL IDIOPATHIC INTRACRANIAL CALCIFICATION - A FAMILY REPORT", Journal of Neurology, Neurosurgery and Psychiatry, 59(4), 1995, pp. 432-434
27. TOLMIE JL; SHILLITO P; HUGHESBENZIE R; STEPHENSON JBP
    THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS)
    Journal of Medical Genetics
    
    J.L. Tolmie et al., "THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS)", Journal of Medical Genetics, 32(11), 1995, pp. 881-884
28. GROSSTSUR V; JOSEPH A; BLINDER G; AMIR N
    FAMILIAL MICROCEPHALY WITH SEVERE NEUROLOGICAL DEFICITS - A DESCRIPTION OF 5 AFFECTED SIBLINGS
    Clinical genetics
    
    V. Grosstsur et al., "FAMILIAL MICROCEPHALY WITH SEVERE NEUROLOGICAL DEFICITS - A DESCRIPTION OF 5 AFFECTED SIBLINGS", Clinical genetics, 47(1), 1995, pp. 33-37
29. REARDON W; HOCKEY A; SILBERSTEIN P; KENDALL B; FARAG TI; SWASH M; STEVENSON R; BARAITSER M
    AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE
    American journal of medical genetics
    
    W. Reardon et al., "AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE", American journal of medical genetics, 52(1), 1994, pp. 58-65
30. ERDEM E; AGILDERE M; ERYILMAZ M; OZDIRIM E
    INTRACRANIAL CALCIFICATION IN CHILDREN ON COMPUTED-TOMOGRAPHY
    Turkish Journal of Pediatrics
    
    E. Erdem et al., "INTRACRANIAL CALCIFICATION IN CHILDREN ON COMPUTED-TOMOGRAPHY", Turkish Journal of Pediatrics, 36(2), 1994, pp. 111-122
31. FOIS A; BALESTRI P; VASCOTTO M; FARNETANI MA; DIBARTOLO RM; DIMARCO V; VINDIGNI C
    PROGRESSIVE CEREBRAL CALCIFICATIONS, EPILEPSY, AND CELIAC-DISEASE
    Brain & development
    
    A. Fois et al., "PROGRESSIVE CEREBRAL CALCIFICATIONS, EPILEPSY, AND CELIAC-DISEASE", Brain & development, 15(1), 1993, pp. 79-82
32. MAJOR NM; HELMS CA; GENANT HK
    CALCIFICATION DEMONSTRATED AS HIGH SIGNAL INTENSITY ON T1-WEIGHTED MR-IMAGES OF THE DISKS OF THE LUMBAR SPINE
    Radiology
    
    N.M. Major et al., "CALCIFICATION DEMONSTRATED AS HIGH SIGNAL INTENSITY ON T1-WEIGHTED MR-IMAGES OF THE DISKS OF THE LUMBAR SPINE", Radiology, 189(2), 1993, pp. 494-496
33. TOHYAMA J; INAGAKI M; KOEDA T; OHNO K; TAKESHITA K
    INTRACRANIAL CALCIFICATION IN SIBLINGS WITH NEPHROGENIC DIABETES-INSIPIDUS - CT AND MRI
    Neuroradiology
    
    J. Tohyama et al., "INTRACRANIAL CALCIFICATION IN SIBLINGS WITH NEPHROGENIC DIABETES-INSIPIDUS - CT AND MRI", Neuroradiology, 35(7), 1993, pp. 553-555
34. WENDEFISCHER R; EHRENHEIM C; HEYER R; RITTIERODT M; EHRICH JHH
    THINK OF TOXOPLASMOSIS IF SPINAL SYMPTOMS APPEAR
    Monatsschrift fur Kinderheilkunde
    
    R. Wendefischer et al., "THINK OF TOXOPLASMOSIS IF SPINAL SYMPTOMS APPEAR", Monatsschrift fur Kinderheilkunde, 141(10), 1993, pp. 789-791