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La ricerca find articoli where soggetti phrase all words 'MACROCEPHALY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 67 riferimenti
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    1. Evereklioglu, C; Yakinci, C; Er, H; Doganay, S; Durmaz, Y
      Normative values of craniofacial measurements in idiopathic benign macrocephalic children

      CLEFT PALATE-CRANIOFACIAL JOURNAL
    2. Piatt, JH
      Monozygotic twins discordant for external hydrocephalus

      PEDIATRIC NEUROSURGERY
    3. Zafeiriou, DI; Sewell, A; Savvopoulou-Augoustidou, P; Gombakis, N; Katzos, G
      L-2-Hydroxyglutaric aciduria presenting as status epilepticus

      BRAIN & DEVELOPMENT
    4. Lin, AE; Liu, Q; Mannheim, GB; Darras, BT
      Exclusion of growth factor gene mutations as a common cause of Sotos syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Nokelainen, P; Heiskala, H; Raininko, R; Autti, T; Wirtavuori, K; Hakkinen, AM; Flint, J
      Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: An inherited encephalopathy of childhood?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Yano, S; Watanabe, Y
      Association of arrhythmia and sudden death in macrocephaly-cutis marmoratatelangiectatica congenita syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Bayoumi, R; Saar, K; Lee, YA; Nurnberg, G; Reis, A; Nur-E-Kamal, M; Al-Gazali, LI
      Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26

      JOURNAL OF MEDICAL GENETICS
    8. Matalon, R; Michals-Matalon, K
      Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings

      FRONTIERS IN BIOSCIENCE
    9. Zannolli, R; Mostardini, R; Hadjistilianou, T; Rosi, A; Berardi, R; Morgese, G
      MOMO syndrome: a possible third case

      CLINICAL DYSMORPHOLOGY
    10. Baralle, D; Firth, H
      A case of the new overgrowth syndrome - macrocephaly with cutis marmorata,haemangioma and syndactyly

      CLINICAL DYSMORPHOLOGY
    11. Robertson, SP; Gattas, M; Rogers, M; Ades, LC
      Macrocephaly - cutis marmorata telangiectatica congenita: report of five patients and a review of the literature

      CLINICAL DYSMORPHOLOGY
    12. Silengo, M; Lerone, M; Seri, M; Priolo, M; Jarre, L
      New clinical findings in oculo-ectodermal syndrome

      CLINICAL DYSMORPHOLOGY
    13. Miles, JH; Hadden, LL; Takahashi, TN; Hillman, RE
      Head circumference is an independent clinical finding associated with autism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Grebe, TA; Clericuzio, C
      Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: Identification of a severe phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Naqvi, S; Cole, T; Graham, JM
      Cole-Hughes macrocephaly syndrome and associated autistic manifestations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Kozma, C; Haddad, BR; Meck, JM
      Trisomy 7p resulting from 7p15;9p24 translocation: Report of a new case and review of associated medical complications

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Franceschini, P; Licata, D; Di Cara, G; Guala, A; Franceschini, D; Genitori, L
      Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Pivnick, EK; Angle, B; Kaufman, RA; Hall, BD; Pitukcheewanont, P; Hersh, JH; Fowlkes, JL; Sanders, LP; O'Brien, JM; Carroll, GS; Gunther, WM; Morrow, HG; Burghen, GA; Ward, JC
      Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Oi, S; Shimoda, M; Shibata, M; Honda, Y; Togo, K; Shinoda, M; Tsugane, R; Sato, O
      Pathophysiology of long-standing overt ventriculomegaly in adults

      JOURNAL OF NEUROSURGERY
    20. Szudek, J; Birch, P; Friedman, JM
      Growth in North American white children with neurofibromatosis 1 (NF1)

      JOURNAL OF MEDICAL GENETICS
    21. Matalon, R; Michals-Matalon, K
      Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    22. Toriello, HV; Bultman, R; Panek, RW; Hammers, Y; Kohut, G; Droste, P; Freyer, DR
      Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome

      CLINICAL DYSMORPHOLOGY
    23. Fombonne, E; Roge, B; Claverie, J; Courty, S; Fremolle, J
      Microcephaly and macrocephaly in autism

      JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
    24. Reichenbach, H; Holland, H; Dalitz, E; Demandt, C; Meiner, A; Chudoba, I; Lemke, J; Claussen, U; Froster, UG
      De novo complete trisomy 5p: Clinical report and FISH studies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. ALGAZALI LI; BAKALINOVA D
      AUTOSOMAL RECESSIVE SYNDROME OF MACROCEPHALY, MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIAL APPEARANCE

      Clinical dysmorphology
    26. PASCUALCASTROVIEJO I; ROCHE C; MARTINEZBERMEJO A; ARCAS J; LOPEZMARTIN V; TENDERO A; ESQUIROZ JLH; PASCUALPASCUAL SI
      HYPOMELANOSIS OF ITO - A STUDY OF 76 INFANTILE CASES

      Brain & development
    27. ERDINCLER P; KAYNAR MY; CANBAZ B; ETUS V; CIPLAK N; KUDAY C
      2 DIFFERENT SURGICAL TECHNIQUES FOR REDUCTION CRANIOPLASTY

      Child's nervous system
    28. GRAHAM JM; TACKELS D; DIBBERN K; SUPERNEAU D; ROGERS C; CORNING K; SCHWARTZ CE
      FG SYNDROME - REPORT OF 3 NEW FAMILIES WITH LINKAGE TO XQ12-Q22.1

      American journal of medical genetics
    29. DILIBERTI JH
      INHERITED MACROCEPHALY-HAMARTOMA SYNDROMES

      American journal of medical genetics
    30. NERI G; STEINDL K; MAZZEI A; BATTAGLIA A; CAPPA M
      NONSYNDROMAL OVERGROWTH IN MALES WITH MILD PSYCHOMOTOR DELAY

      American journal of medical genetics
    31. GUJRATI M; THOMAS C; ZELBY A; JENSEN E; LEE JM
      BANNAYAN-ZONANA-SYNDROME - A RARE AUTOSOMAL-DOMINANT SYNDROME WITH MULTIPLE LIPOMAS AND HEMANGIOMAS - A CASE-REPORT AND REVIEW OF LITERATURE

      Surgical neurology
    32. CNOSSEN MH; MOONS KGM; GARSSEN MPJ; PASMANS NMT; DEGOEDEBOLDER A; NIERMEIJER MF; GROBBEE DE
      MINOR DISEASE FEATURES IN NEUROFIBROMATOSIS TYPE-1 (NF1) AND THEIR POSSIBLE VALUE IN DIAGNOSIS OF NF1 IN CHILDREN LESS-THAN-OR-EQUAL-TO-6 YEARS AND CLINICALLY SUSPECTED OF HAVING NF1

      Journal of Medical Genetics
    33. CLAYTONSMITH J; KERR B; BRUNNER H; TRANEBJAERG L; MAGEE A; HENNEKAM RCM; MUELLER RF; BRUETON L; SUPER M; STEENJOHNSEN J; DONNAI D
      MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME

      Clinical dysmorphology
    34. PFLUGER T; WEIL S; MUNTAU A; WILLEMSEN UF; HAHN K
      GLUTARIC ACIDURIA TYPE-I - A SERIOUS PITFALL IF DIAGNOSED TOO LATE

      European radiology
    35. LAINHART JE; PIVEN J; WZOREK M; LANDA R; SANTANGELO SL; COON H; FOLSTEIN SE
      MACROCEPHALY IN CHILDREN AND ADULTS WITH AUTISM

      Journal of the American Academy of Child and Adolescent Psychiatry
    36. BARBOT C; FINEZA I; DIOGO L; MAIA M; MELO J; GUIMARAES A; PIRES MM; CARDOSO ML; VILARINHO L
      L-2-HYDROXYGLUTARIC ACIDURIA - CLINICAL, BIOCHEMICAL AND MAGNETIC-RESONANCE-IMAGING IN 6 PORTUGUESE PEDIATRIC-PATIENTS

      Brain & development
    37. BAKKER HD; HENNEKAM RCM
      MACROCEPHALY, FACIAL ABNORMALITIES, DISPROPORTIONATE TALL STATURE, AND MENTAL-RETARDATION - A SIB OBSERVATION

      American journal of medical genetics
    38. SCHOWALTER DB; PAGON RA; KALINA RE; MCDONALD R
      FACIO-OCULO-ACOUSTICO-RENAL (FOAR) SYNDROME - CASE-REPORT AND REVIEW

      American journal of medical genetics
    39. SCHAEFER GB; BODENSTEINER JB; BUEHLER BA; LIN A; COLE TRP
      THE NEUROIMAGING FINDINGS IN SOTOS SYNDROME

      American journal of medical genetics
    40. MUNTAU AC; ROSCHINGER W; PFLUGER T; ENDERS A; HOFFMANN GF
      GLUTARIC ACIDURIA TYPE-I - 2 CASES OF MIS DIAGNOSIS AS BATTERED-CHILDSYNDROME AND THE IMPORTANCE OF PRESYMPTOMATIC DIAGNOSIS AND TREATMENT

      Monatsschrift fur Kinderheilkunde
    41. ORSTAVIK KH; STROMME P; EK J; TORVIK A; SKJELDAL OH
      MACROCEPHALY, EPILEPSY, AUTISM, DYSMORPHIC FEATURES, AND MENTAL-RETARDATION IN 2 SISTERS - A NEW AUTOSOMAL RECESSIVE SYNDROME

      Journal of Medical Genetics
    42. GATHERER D; WOODLAND HR
      N-ACETYL-CYSTEINE CAUSES A LATE RE-SPECIFICATION OF THE ANTEROPOSTERIOR AXIS IN THE XENOPUS EMBRYO

      Developmental dynamics
    43. WINTER RM; SHORTLAND D; COLLINS AL; HALL CM; TEMPLE IK
      EXTREME INTRAUTERINE GROWTH-RETARDATION, HYDROCEPHALUS AND AGED FACIAL APPEARANCE - A PREVIOUSLY UNRECOGNIZED AUTOSOMAL RECESSIVE DISORDER

      Clinical dysmorphology
    44. DRIGO P; CARRA S; LAVERDA AM; ARTIFONI L
      MACROCEPHALY AND CHROMOSOME DISORDERS - A CASE-REPORT

      Brain & development
    45. MASSAGER N; WAYENBERG JL; RAFTOPOULOS C; CHRISTOPHE C; VERMEYLEN D; FRANCO P
      ANTERIOR FONTANELLE PRESSURE MONITORING FOR THE EVALUATION OF ASYMPTOMATIC INFANTS WITH INCREASED HEAD GROWTH-RATE

      Child's nervous system
    46. HOFFMANN GF; ATHANASSOPOULOS S; BURLINA AB; DURAN M; DEKLERK JBC; LEHNERT W; LEONARD JV; MONAVARI AA; MULLER E; MUNTAU AC; NAUGHTEN ER; PLECKOSTARTING B; SUPERTIFURGA A; ZSCHOCKE J; CHRISTENSEN E
      CLINICAL COURSE, EARLY DIAGNOSIS, TREATMENT, AND PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY

      Neuropediatrics
    47. PIUSSAN C; MATHIEU M; BERQUIN P; FRYNS JP
      FRAGILE-X MUTATION AND FG SYNDROME-LIKE PHENOTYPE

      American journal of medical genetics
    48. SCHUTZ CK; IVES EJ; CHALIFOUX M; MACLAREN L; FARRELL S; ROBINSON PD; WHITE BN; HOLDEN JJA
      REGIONAL LOCALIZATION OF AN X-LINKED MENTAL-RETARDATION GENE TO XP21.1-XP22.13 (MRX38)

      American journal of medical genetics
    49. KONIG R; DUKIET C; DORRIES A; ZABEL B; FUCHS S
      OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS - VARIABLE EXPRESSIVITY INA 4 GENERATION PEDIGREE

      American journal of medical genetics
    50. RAUCH A; TRAUTMANN U; PFEIFFER RA
      CLINICAL AND MOLECULAR CYTOGENETIC OBSERVATIONS IN 3 CASES OF TRISOMY12P SYNDROME

      American journal of medical genetics
    51. WOODHOUSE W; BAILEY A; RUTTER M; BOLTON P; BAIRD G; LECOUTEUR A
      HEAD CIRCUMFERENCE IN AUTISM AND OTHER PERVASIVE DEVELOPMENTAL DISORDERS

      Journal of child psychology and psychiatry and allied disciplines
    52. ARBOUR L; WATTERS GV; HALL JG; FRASER FC
      MULTIFACTORIAL INHERITANCE OF NON-SYNDROMIC MACROCEPHALY

      Clinical genetics
    53. TATTELBAUM AG; DUFRESNE CR
      PROTEUS SYNDROME - A NEWLY RECOGNIZED HAMARTOMATOUS SYNDROME WITH SIGNIFICANT CRANIOFACIAL DYSMORPHOLOGY

      The Journal of craniofacial surgery
    54. WINSTON KR; OGILVY CS; MCGRAIL K
      REDUCTION CRANIOPLASTY

      Pediatric neurosurgery
    55. NORTH KN; FULTON AB; WHITEMAN DAH
      IDENTICAL-TWINS WITH COHEN SYNDROME

      American journal of medical genetics
    56. BARAITSER M; REARDON W; VIJERATNAM S
      NONSPECIFIC X-LINKED MENTAL-RETARDATION WITH MACROCEPHALY AND OBESITY- A FURTHER FAMILY

      American journal of medical genetics
    57. PRASSOPOULOS P; CAVOURAS D; GOLFINOPOULOS S; NEZI M
      THE SIZE OF THE INTRAVENTRICULAR AND EXTRAVENTRICULAR CEREBROSPINAL-FLUID COMPARTMENTS IN CHILDREN WITH IDIOPATHIC BENIGN WIDENING OF THE FRONTAL SUBARACHNOID SPACE

      Neuroradiology
    58. GRABB PA; ALBRIGHT AL; ZITELLI BJ
      MULTIPLE SUTURE SYNOSTOSIS, MACROCEPHALY, AND INTRACRANIAL HYPERTENSION IN A CHILD WITH ALPHA-D-MANNOSIDASE DEFICIENCY - CASE-REPORT

      Journal of neurosurgery
    59. AGOSTINIANI R; SCARANO E; SANI S; DONZELLI GP; CINQUE N
      MACROCEPHALY IN INFANCY - US IMAGING

      Rivista italiana di pediatria
    60. MARTINEZLAGE JF; CASAS C; FERNANDEZ MA; PUCHE A; COSTA TR; POZA M
      MACROCEPHALY, DYSTONIA, AND BILATERAL TEMPORAL ARACHNOID CYSTS - GLUTARIC ACIDURIA TYPE-1

      Child's nervous system
    61. HOGGE WA; BLANK C; ROOCHVARG LB; HOGGE JS; WULFSBERG EA; RAFFEL LJ
      GORLIN SYNDROME (NEVOID BASAL-CELL CARCINOMA SYNDROME) - PRENATAL DETECTION IN A FETUS WITH MACROCEPHALY AND VENTRICULOMEGALY

      Prenatal diagnosis
    62. EVERS MEJW; DIJKMANNEERINCX RHM; HAMEL BCJ
      OCULO-ECTODERMAL SYNDROME - A NEW CASE

      American journal of medical genetics
    63. FRYBURG JS; PELEGANO JP; BENNETT MJ; BEBIN EM
      LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME

      American journal of medical genetics
    64. FRYNS JP; HELLEMANS M; VANDENBERGHE H
      MACROCEPHALY, DISTINCT CRANIOFACIAL APPEARANCE AND SPASTIC PARAPLEGIA- AN AUTOSOMAL RECESSIVE SUBTYPE OF COMPLICATED SPASTIC PARAPLEGIA

      Clinical genetics
    65. MALHERBE V; PARIENTE D; TARDIEU M; LACROIX C; VENENCIE PY; HIBON D; VEDRENNE J; LANDRIEU P
      CENTRAL-NERVOUS-SYSTEM LESIONS IN HYPOMELANOSIS OF ITO - AN MRI AND PATHOLOGICAL-STUDY

      Journal of neurology
    66. BRINKMANN G; SCHLITT H; ZOROWKA P; SPRANGER J
      COGNITIVE SKILLS IN ACHONDROPLASIA

      American journal of medical genetics
    67. HANSSEN AMN; WERQUIN H; SUYS E; FRYNS JP
      COWDEN SYNDROME - REPORT OF A LARGE FAMILY WITH MACROCEPHALY AND INCREASED SEVERITY OF SIGNS IN SUBSEQUENT GENERATIONS

      Clinical genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 19:07:58