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La ricerca find articoli where soggetti phrase all words 'MECKEL SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 45 riferimenti
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    1. Gulcan, H; Duman, N; Kumral, A; Sagol, O; Lebe, B; Kavukcu, S; Ercal, D; Celiloglu, M; Ozkan, H
      Goldston syndrome: Report of a case

      GENETIC COUNSELING
    2. Sergi, C; Himbert, U; Weinhardt, F; Heilmann, W; Meyer, P; Beedgen, B; Zilow, E; Hofmann, WJ; Linderkamp, O; Otto, HF
      Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus - Case report and differential diagnosis of the perinatal iron storage disorders

      PATHOLOGY RESEARCH AND PRACTICE
    3. Sen, C
      The use of first trimester ultrasound in routine practice

      JOURNAL OF PERINATAL MEDICINE
    4. Sergi, C; Adam, S; Kahl, P; Otto, HF
      Study of the malformation of ductal plate of the liver in Meckel syndrome and review of ether syndromes presenting with this anomaly

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    5. Cincinnati, P; Neri, MEM; Valentini, A
      Dandy-Walker anomaly in Meckel-Gruber syndrome

      CLINICAL DYSMORPHOLOGY
    6. Pavone, L; Rizzo, R; Pavone, P; Curatolo, P; Dobyns, WB
      Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies

      JOURNAL OF CHILD NEUROLOGY
    7. Saphier, CJ; Gaddipati, S; Applewhite, LE; Berkowitz, RL
      Prenatal diagnosis and management of abnormalities in the urologic system

      CLINICS IN PERINATOLOGY
    8. Peltonen, L
      Positional cloning of disease genes: Advantages of genetic isolates

      HUMAN HEREDITY
    9. Pooh, RK; Maeda, K; Pooh, KH; Kurjak, A
      Sonographic assessment of fetal brain morphology

      PRENATAL AND NEONATAL MEDICINE
    10. Kjaer, KW; Hansen, BF; Keeling, JW; Nolting, D; Kjaer, I
      Malformations of cranial base structures and pituitary gland in prenatal Meckel syndrome

      APMIS
    11. Kjaer, KW; Hansen, BF; Keeling, JW; Kjaer, I
      Skeletal malformations in fetuses with Meckel syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Blaas, HG; Eik-Nes, SH
      The central nervous system. Normal development and development anomalies. Ultrasound diagnosis in early pregnancy

      GYNAKOLOGE
    13. Saunders, AJS; Denton, E; Stephens, S; Reid, C
      Cystic kidney disease presenting in infancy

      CLINICAL RADIOLOGY
    14. Visapaa, I; Salonen, R; Varilo, T; Paavola, P; Peltonen, L
      Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. GUAYWOODFORD LM; GALLIANI CA; MUSULMANMROCZEK E; SPEAR GS; GUILLOT AP; BERNSTEIN J
      DIFFUSE RENAL CYSTIC-DISEASE IN CHILDREN - MORPHOLOGIC AND GENETIC CORRELATIONS

      Pediatric nephrology
    16. GAZIOGLU N; VURAL M; SECKIN MS; TUYSUZ B; AKPIR E; KUDAY C; ILIKKAN B; ERGINEL A; CENANI A
      MECKEL-GRUBER-SYNDROME

      Child's nervous system
    17. OOSTRA RJ; BALJET B; DIJKSTRA PF; HENNEKAM RCM
      CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - I - SYNDROMES WITH MULTIPLE CONGENITAL-ANOMALIES

      American journal of medical genetics
    18. SALONEN R; PAAVOLA P
      MECKEL-SYNDROME

      Journal of Medical Genetics
    19. SHANKS J; KERR B; RUSSELL SA; KINGSTON H; MOORE L
      SKELETAL ABNORMALITIES IN MECKEL-SYNDROME

      PEDIATRIC PATHOLOGY & LABORATORY MEDICINE
    20. WARTIOVAARA K; PAAVOLA P; SUVANTO P; PAULIN L; SAARMA M; PELTONEN L; SARIOLA H
      EXCLUSION OF THE P75 NEUROTROPHIN RECEPTOR GENE AS A CANDIDATE GENE FOR MECKEL SYNDROME

      Clinical dysmorphology
    21. SOUKA AP; NICOLAIDES KH
      DIAGNOSIS OF FETAL ABNORMALITIES AT THE 10-14-WEEK SCAN

      Ultrasound in obstetrics & gynecology
    22. SHOZU M; AKIMOTO K; TANAKA J; SONODA Y; INOUE M; MICHIKURA Y
      ANTENATAL DETECTION OF MECKEL-GRUBER-SYNDROME IN ONLY ONE DIZYGOTIC TWIN FOLLOWING IN-VITRO FERTILIZATION AND EMBRYO-TRANSFER

      Gynecologic and obstetric investigation
    23. VILLE Y; KHALIL A; HOMPHRAY T; MOSCOSO G
      DIAGNOSTIC EMBRYOSCOPY AND FETOSCOPY IN THE FIRST-TRIMESTER OF PREGNANCY

      Prenatal diagnosis
    24. ZLOTOGORA J
      GENETIC-DISORDERS AMONG PALESTINIAN ARABS .2. HYDROCEPHALUS AND NEURAL-TUBE DEFECTS

      American journal of medical genetics
    25. LIN AE; ARDINGER HH; ARDINGER RH; CUNNIFF C; KELLEY RI
      CARDIOVASCULAR MALFORMATIONS IN SMITH-LEMLI-OPITZ SYNDROME

      American journal of medical genetics
    26. ROUME J; MA HW; LEMERRER M; CORMIERDAIRE V; GIRLICH D; GENIN E; MUNNICH A
      GENETIC-HETEROGENEITY OF MECKEL-SYNDROME

      Journal of Medical Genetics
    27. GULATI R; PHADKE SR; AGARWAL SS
      ASSOCIATED MALFORMATIONS IN THE FAMILY OF A PATIENT WITH MECKEL-SYNDROME - HETEROZYGOUS EXPRESSION

      Journal of Medical Genetics
    28. YODER BK; RICHARDS WG; SOMMARDAHL C; SWEENEY WE; MICHAUD EJ; WILKINSON JE; AVNER ED; WOYCHIK RP
      DIFFERENTIAL RESCUE OF THE RENAL AND HEPATIC-DISEASE IN AN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE MOUSE MUTANT - A NEW MODEL TO STUDY THE LIVER LESION

      The American journal of pathology
    29. SEPULVEDA W; SEBIRE NJ; SOUKA A; SNIJDERS RJM; NICOLAIDES KH
      DIAGNOSIS OF THE MECKEL-GRUBER-SYNDROME AT 11-WEEKS TO 14-WEEKS GESTATION

      American journal of obstetrics and gynecology
    30. YAPAR EG; EKICI E; DOGAN M; GOKMEN O
      MECKEL-GRUBER-SYNDROME CONCOMITANT WITH DANDY-WALKER MALFORMATION - PRENATAL SONOGRAPHIC DIAGNOSIS IN 2 CASES

      Clinical dysmorphology
    31. VILLE Y; BERNARD JP; DOUMERC S; MULTON O; FERNANDEZ H; FRYDMAN R; BARKI G
      TRANSABDOMINAL FETOSCOPY IN FETAL ANOMALIES DIAGNOSED BY ULTRASOUND IN THE FIRST TRIMESTER OF PREGNANCY

      Ultrasound in obstetrics & gynecology
    32. SUGIURA Y; SUZUKI Y; KOBAYASHI M
      THE MECKEL SYNDROME - REPORT OF 2 JAPANESE SIBS AND A REVIEW OF LITERATURE

      American journal of medical genetics
    33. GENTILE M; DICARLO A; SUSCA F; GAMBOTTO A; CARUSO ML; PANELLA C; VAJRO P; GUANTI G
      COACH SYNDROME - REPORT OF 2 BROTHERS WITH CONGENITAL HEPATIC-FIBROSIS, CEREBELLAR VERMIS HYPOPLASIA, OLIGOPHRENIA, ATAXIA, AND MENTAL-RETARDATION

      American journal of medical genetics
    34. YODER BK; RICHARDS WG; SOMMARDAHL C; SWEENEY WE; MICHAUD EJ; WILKINSON JE; AVNER ED; WOYCHIK RP
      FUNCTIONAL CORRECTION OF RENAL DEFECTS IN A MOUSE MODEL FOR ARPKD THROUGH EXPRESSION OF THE CLONED WILD-TYPE TG737 CDNA

      Kidney international
    35. MORAVA E; ADAMOVICH K; CZEIZEL AE
      DANDY-WALKER MALFORMATION AND POLYDACTYLY - A POSSIBLE EXPRESSION OF HYDROLETHALUS SYNDROME

      Clinical genetics
    36. SCHRICK JJ; ONUCHIC LF; REEDERS ST; KORENBERG J; CHEN XN; MOYER JH; WILKINSON JE; WOYCHIK RP
      CHARACTERIZATION OF THE HUMAN HOMOLOG OF THE MOUSE TG737 CANDIDATE POLYCYSTIC KIDNEY-DISEASE GENE

      Human molecular genetics
    37. BRAITHWAITE JM; ECONOMIDES DL
      FIRST-TRIMESTER DIAGNOSIS OF MECKEL-GRUBER SYNDROME BY TRANSABDOMINALSONOGRAPHY IN A LOW-RISK CASE

      Prenatal diagnosis
    38. SUMMERS MC; DONNENFELD AE
      DANDY-WALKER MALFORMATION IN THE MECKEL SYNDROME

      American journal of medical genetics
    39. WININGER SJ; DONNENFELD AE
      SYNDROMES IDENTIFIED IN FETUSES WITH PRENATALLY DIAGNOSED CEPHALOCELES

      Prenatal diagnosis
    40. DUMEZ Y; DOMMERGUES M; GUBLER MC; BUNDUKI V; NARCY F; LEMERRER M; MANDELBROT L; BERKOWITZ R
      MECKEL-GRUBER SYNDROME - PRENATAL, DIAGNOSIS AT 10 MENSTRUAL WEEKS USING EMBRYOSCOPY

      Prenatal diagnosis
    41. NELSON J; NEVIN NC; HANNA EJ
      POLYDACTYLY IN A CARRIER OF THE GENE FOR THE MECKEL SYNDROME

      American journal of medical genetics
    42. TEEBI AS
      AUTOSOMAL RECESSIVE DISORDERS AMONG ARABS - AN OVERVIEW FROM KUWAIT

      Journal of Medical Genetics
    43. LURIE IW; WULFSBERG EA
      HOLOPROSENCEPHALY-POLYDACTYLY (PSEUDOTRISOMY-13) SYNDROME - EXPANSIONOF THE PHENOTYPIC SPECTRUM

      American journal of medical genetics
    44. PIANTANIDA M; TIBERTI A; PLEBANI A; MARTELLI P; DANESINO C
      CEREBRO-RENO-DIGITAL SYNDROME IN 2 SIBS

      American journal of medical genetics
    45. GENUARDI M; DIONISIVICI C; SABETTA G; MIGNOZZI M; RIZZONI G; COTUGNO G; NERI MEM
      CEREBRO-RENO-DIGITAL (MECKEL-LIKE) SYNDROME WITH DANDY-WALKER MALFORMATION, CYSTIC KIDNEYS, HEPATIC-FIBROSIS, AND POLYDACTYLY

      American journal of medical genetics


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Documento generato il 29/10/20 alle ore 13:05:44