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La ricerca find articoli where soggetti phrase all words 'WOLF-HIRSCHHORN-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 71 riferimenti
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    1. Marcelis, C; Schrander-Stumpel, C; Engelen, J; Schoonbrood-Lenssen, A; Willemse, A; Beemer, F; Sigaudy, S; Missirian, C; Philip, N; Fryns, JP
      Wolf-Hirschhorn (4p) syndrome in adults

      GENETIC COUNSELING
    2. Joyce, CA; Dennis, NR; Cooper, S; Browne, CE
      Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH

      HUMAN GENETICS
    3. Zankl, A; Addor, MC; Maeder-Ingvar, M; Schorderet, DF
      A characteristic EEG pattern in 4p-syndrome: case report and review of theliterature

      EUROPEAN JOURNAL OF PEDIATRICS
    4. Escudero, T; Lee, M; Stevens, J; Sandalinas, M; Munne, S
      Preimplantation genetic diagnosis of pericentric inversions

      PRENATAL DIAGNOSIS
    5. de Vries, BBA; Lees, M; Knight, SJL; Regan, R; Corney, D; Flint, J; Barnicoat, A; Winter, RM
      Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Rauch, A; Schellmoser, S; Kraus, C; Dorr, HG; Trautmann, U; Altherr, MR; Pfeiffer, RA; Reis, A
      First known microdeletion within the Wolf-Hirschhorn-syndrome critical region refines genotype-phenotype correlation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Syrrou, M; Borghgraef, M; Fryns, JP
      Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3 :: pter-qter)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Cotter, PD; Kaffe, S; Li, L; Gershin, IF; Hirschhorn, K
      Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Shannon, NL; Maltby, EL; Rigby, AS; Quarrell, WJ
      An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality

      JOURNAL OF MEDICAL GENETICS
    10. Wieczorek, D; Krause, M; Majewski, F; Albrecht, B; Horn, D; Riess, O; Gillessen-Kaesbach, G
      Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

      EUROPEAN JOURNAL OF HUMAN GENETICS
    11. Battaglia, A; Carey, JC; Viskochil, DH; Cederholm, P; Opitz, JM
      Wolf-Hirschhorn syndrome (WHS): a history in pictures

      CLINICAL DYSMORPHOLOGY
    12. Grisaru, S; Ramage, IJ; Rosenblum, ND
      Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome

      PEDIATRIC NEPHROLOGY
    13. Wertz, K; Herrmann, BG
      Large-scale screen for genes involved in gonad development

      MECHANISMS OF DEVELOPMENT
    14. Chen, CP; Devriendt, K; Chern, SR; Lee, CC; Wang, WS; Lin, SP
      Prenatal diagnosis of inherited satellited non-acrocentric chromosomes

      PRENATAL DIAGNOSIS
    15. Petek, E; Wagner, K; Steiner, H; Schaffer, H; Kroisel, PM
      Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation

      PRENATAL DIAGNOSIS
    16. Kohlschmidt, N; Zielinski, J; Brude, E; Schafer, D; Olert, J; Hallermann, C; Coerdt, W; Arnemann, J
      Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)

      PRENATAL DIAGNOSIS
    17. Zimmermann-Bar, U; Stallmach, T; Riegel, M; Wiedemann, U; Fauchere, JC; Binkert, F; Kotzot, D
      Wolf-Hirschhorn syndrome due to a 3 : 1 segregation of a maternal balancedt(4;15)(p16.3;q11) translocation

      PRENATAL DIAGNOSIS
    18. Pierpont, MEM; Hentges, AS; Gears, LJ; Hirsch, B; Sinaiko, A
      Unbalanced 4;6 translocation and progressive renal disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Zollino, M; Di Stefano, C; Zampino, G; Mastroiacovo, P; Wright, TJ; Sorge, G; Selicorni, A; Tenconi, R; Zappala, A; Battaglia, A; Di Rocco, M; Palka, G; Pallotta, R; Altherr, MR; Neri, G
      Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Green, EK; Priestley, MD; Waters, J; Maliszewska, C; Latif, F; Maher, ER
      Detailed mapping of a congenital heart disease gene in chromosome 3p25

      JOURNAL OF MEDICAL GENETICS
    21. Fagan, K; Soubjaki, V; Donald, P; Turner, G; Partington, M
      Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families

      JOURNAL OF MEDICAL GENETICS
    22. Battaglia, A; Carey, JC
      Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Kozma, C; Chong, SS; Meck, JM
      Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Zollino, M; Wright, TJ; Di Stefano, C; Tosolini, A; Battaglia, A; Altherr, MR; Neri, G
      "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Knight, SJL; Regan, R; Nicod, A; Horsley, SW; Kearney, L; Homfray, T; Winter, RM; Bolton, P; Flint, J
      Subtle chromosomal rearrangements in children with unexplained mental retardation

      LANCET
    26. Battaglia, A; Carey, JC; Cederholm, P; Viskochil, DH; Brothman, AR; Galasso, C
      Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases

      PEDIATRICS
    27. Slavotinek, A; Rosenberg, M; Knight, S; Gaunt, L; Fergusson, W; Killoran, C; Clayton-Smith, J; Kingston, H; Campbell, RHA; Flint, J; Donnai, D; Biesecker, L
      Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosometelomeres

      JOURNAL OF MEDICAL GENETICS
    28. Reddy, KS; Fugate, JK
      A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements

      CLINICAL GENETICS
    29. Innes, AM; Chudley, AE; Carson, NL; Dawson, AJ
      Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype

      CLINICAL GENETICS
    30. Manouvrier, S; Boute, O; Viot, G; Delobel, B
      Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype

      CLINICAL GENETICS
    31. WIECZOREK D; HOLTVOGT J; THONIG S; GILLESSENKAESBACH G
      A FEMALE-PATIENT WITH PARTIAL DUPLICATION-22(Q13-]QTER)

      Clinical dysmorphology
    32. Brenan, M; Flint, J
      Examination of the X chromosome by STS-PCR screening for the presence of submicroscopic deletions

      HUMAN GENETICS
    33. COHEN MM; NERI G
      NEW OVERGROWTH SYNDROME AND FGFR3 DOSAGE EFFECT

      Journal of Medical Genetics
    34. BREEN GH
      TAURODONTISM, AN UNREPORTED DENTAL FINDING IN WOLF-HIRSCHHORN-(4P-)-SYNDROME

      Journal of dentistry for children
    35. CHESI M; NARDINI E; LIM RSC; SMITH KD; KUEHL WM; BERGSAGEL PL
      THE T(4-14) TRANSLOCATION IN MYELOMA DYSREGULATES BOTH FGFR3 AND A NOVEL GENE, MMSET, RESULTING IN IGH MMSET HYBRID TRANSCRIPTS/

      Blood
    36. FRYNS JP; SMEETS E; DEVRIENDT K; PETIT P
      WOLF-HIRSCHHORN-SYNDROME WITH CRYPTIC 4P16.3 DELETION AND BALANCED UNBALANCED MOSAICISM IN THE MOTHER/

      Annales de genetique
    37. BATTAGLIA A
      WOLF-HIRSCHHORN-SYNDROME(4P-) - A CAUSE O F SEVERE MENTAL-RETARDATIONOF DIFFICULT DIAGNOSIS

      Rivista italiana di pediatria
    38. HERENS C; JAMAR M; ALVAREZGONZALEZ ML; LESENFANTS S; LOMBET J; BONNIVERT J; KOULISCHER L; VERLOES A
      PRIVATE MULTIPLE CONGENITAL ANOMALY SYNDROMES MAY RESULT FROM UNBALANCED SUBTLE TRANSLOCATIONS - T(2Q-4P) EXPLAINS THE LAMBOTTE-SYNDROME

      American journal of medical genetics
    39. ANDERSON CE; WALLERSTEIN R; ZAMEROWSKI ST; WITZLEBEN C; HOYER JR; GIBAS L; JACKSON LG
      RING CHROMOSOME-4 MOSAICISM COINCIDENCE OF OLIGOMEGANEPHRONIA AND SIGNS OF SECKEL SYNDROME

      American journal of medical genetics
    40. FANG YY; BAIN S; HAAN EA; EYRE HJ; MACDONALD M; WRIGHT TJ; ALTHERR MR; RIESS O; SUTHERLAND G; CALLEN DF
      HIGH-RESOLUTION CHARACTERIZATION OF AN INTERSTITIAL DELETION OF LESS-THAN 1.9 MB AT 4P16.3 ASSOCIATED WITH WOLF-HIRSCHHORN-SYNDROME

      American journal of medical genetics
    41. ALTHERR MR; WRIGHT TJ; DENISON K; PEREZCASTRO AV; JOHNSON VP
      DELIMITING THE WOLF-HIRSCHHORN-SYNDROME CRITICAL REGION TO 750 KILOBASE PAIRS

      American journal of medical genetics
    42. CODY JD; PIERCE JF; BRKANAC Z; PLAETKE R; GHIDONI PD; KAYE CI; LEACH RJ
      PREFERENTIAL LOSS OF THE PATERNAL ALLELES IN THE 18Q- SYNDROME

      American journal of medical genetics
    43. PARTINGTON MW; FAGAN K; SOUBJAKI V; TURNER G
      TRANSLOCATIONS INVOLVING 4P16.3 IN 3 FAMILIES - DELETION CAUSING THE PITT-ROGERS-DANKS-SYNDROME AND DUPLICATION RESULTING IN A NEW OVERGROWTH SYNDROME

      Journal of Medical Genetics
    44. KANT SG; VANHAERINGEN A; BAKKER E; STEC I; DONNAI D; MOLLEVANGER P; BEVERSTOCK GC; LINDEMANKUSSE MC; VANOMMEN GJB
      PITT-ROGERS-DANKS-SYNDROME AND WOLF-HIRSCHHORN-SYNDROME ARE CAUSED BYA DELETION IN THE SAME REGION ON CHROMOSOME 4P16.3

      Journal of Medical Genetics
    45. PIERPONT MEM
      GENETIC ETIOLOGY OF CARDIAC SYNDROMES

      Progress in pediatric cardiology
    46. POLYMEROPOULOS MH; IDE SE; WRIGHT M; GOODSHIP J; WEISSENBACH J; PYERITZ RE; DASILVA EO; DELUNA RIO; FRANCOMANO CA
      THE GENE FOR THE ELLIS-VANCREVELD-SYNDROME IS LOCATED ON CHROMOSOME-4P16

      Genomics
    47. MULLERNAVIA J; NEBEL A; OEHLER D; THEILE U; ZABEL B; SCHLEIERMACHER E
      MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME-ABNORMALITIES

      Prenatal diagnosis
    48. CLEMENS M; MARTSOLF JT; ROGERS JG; MOWERYRUSHTON P; SURTI U; MCPHERSON E
      PITT-ROGERS-DANKS SYNDROME - THE RESULT OF A 4P MICRODELETION

      American journal of medical genetics
    49. ZOLLINO M; BOVA R; NERI G
      FROM PITT-ROGERS-DANKS SYNDROME TO WOLF-HIRSCHHORN SYNDROME - AND BACK

      American journal of medical genetics
    50. REID E; MORRISON N; BARREN L; BOYD E; COOKE A; FIELDING D; TOLMIE JL
      FAMILIAL WOLF-HIRSCHHORN SYNDROME RESULTING FROM A CRYPTIC TRANSLOCATION - A CLINICAL AND MOLECULAR STUDY

      Journal of Medical Genetics
    51. TARZAMI ST; KRINGSTEIN AM; CONTE RA; VERMA RS
      A UNIQUE GENOMIC SEQUENCE IN THE WOLF-HIRSCHHORN SYNDROME [WHS] REGION OF HUMANS IS CONSERVED IN THE GREAT APES

      Genetica
    52. PETIT P; SCHMIT J; VANDENBERGHE H; FRYNS JP
      ON 2 PATIENTS WITH AND WITHOUT THE CLASSICAL WOLF-HIRSCHHORN SYNDROME(WHS) SHARING THE SAME CHROMOSOME 4P16.3 SPECIFIC PROBE DELETION - EVIDENCE OF A CONTIGUOUS GENE DELETION SYNDROME

      Clinical genetics
    53. FLINT J; WILKIE AOM; BUCKLE VJ; WINTER RM; HOLLAND AJ; MCDERMID HE
      THE DETECTION OF SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN IDIOPATHIC MENTAL-RETARDATION

      Nature genetics
    54. PHELAN MC; SAUL RA; GAILEY TA; SKINNER SA
      PRENATAL-DIAGNOSIS OF MOSAIC 4P - IN A FETUS WITH TRISOMY-21

      Prenatal diagnosis
    55. ESTABROOKS LL; RAO KW; DRISCOLL DA; CRANDALL BF; DEAN JCS; IKONEN E; KORF B; AYLSWORTH AS
      PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME 4P16 BASED ON 4P DELETIONS

      American journal of medical genetics
    56. WHITE DM; PILLERS DAM; REISS JA; BROWN MG; MAGENIS RE
      INTERSTITIAL DELETIONS OF THE SHORT ARM OF CHROMOSOME-4 IN PATIENTS WITH A SIMILAR COMBINATION OF MULTIPLE MINOR ANOMALIES AND MENTAL-RETARDATION

      American journal of medical genetics
    57. ESTABROOKS LL; BREG WR; HAYDEN MR; LEDBETTER DH; MYERS RM; WYANDT HE; YANGFENG TL; HIRSCHHORN K
      SUMMARY OF THE 1993 ASHG ANCILLARY MEETING - RECENT RESEARCH ON CHROMOSOME-4P SYNDROMES AND GENES

      American journal of medical genetics
    58. CHITAYAT D; RUVALCABA RHA; BABUL R; TESHIMA IE; POSNICK JC; VEKEMANS MJJ; SCARPELLI H; THULINE H
      SYNDROME OF PROXIMAL INTERSTITIAL DELETION 4P15 - REPORT OF 3 CASES AND REVIEW OF THE LITERATURE

      American journal of medical genetics
    59. SGRO V; RIVA E; CANEVINI MP; COLAMARIA V; ROTTOLI A; MINOTTI L; CANGER R; DALLABERNARDINA B
      4P(-) SYNDROME - A CHROMOSOMAL DISORDER ASSOCIATED WITH A PARTICULAR EEG PATTERN

      Epilepsia
    60. VILLA A; URIOSTE M; CARRASCOSA MC; VAZQUEZ S; MARTINEZ A; MARTINEZFRIAS ML
      PERICENTRIC INVERSIONS OF CHROMOSOME-4 - REPORT OF A NEW FAMILY AND REVIEW OF THE LITERATURE

      Clinical genetics
    61. GROSSON CLS; MACDONALD ME; DUYAO MP; AMBROSE CM; ROFFLERTARLOV S; GUSELLA JF
      SYNTENY CONSERVATION OF THE HUNTINGTONS-DISEASE GENE AND SURROUNDING LOCI ON MOUSE CHROMOSOME-5

      Mammalian genome
    62. ISHIDA Y; HADANO S; NAGAYAMA T; TOMIYASU H; WAKASA K; IKEDA JE
      ISOLATION AND CHARACTERIZATION OF 21 NOVEL EXPRESSED DNA-SEQUENCES FROM THE DISTAL REGION OF HUMAN-CHROMOSOME-4P

      Genomics
    63. RIESS O; WINKELMANN B; EPPLEN JT
      TOWARD THE COMPLETE GENOMIC MAP AND MOLECULAR PATHOLOGY OF HUMAN-CHROMOSOME-4

      Human genetics
    64. VINALS F; SEPULVEDA W; SELMAN E
      PRENATAL DETECTION OF CONGENITAL HYPOSPADIAS IN THE WOLF-HIRSCHHORN (4P-) SYNDROME

      Prenatal diagnosis
    65. JOHNSON VP; ALTHERR MR; BLAKE JM; KEPPEN LD
      FISH DETECTION OF WOLF-HIRSCHHORN SYNDROME - EXCLUSION OF D4F26 AS CRITICAL SITE

      American journal of medical genetics
    66. PETTENATI MJ; HAYWORTH R; COX K; RAO PN
      PRENATAL DETECTION OF CRI DU CHAT SYNDROME ON UNCULTURED AMNIOCYTES USING FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)

      Clinical genetics
    67. DALLAPICCOLA B; MANDICH P; BELLONE E; SELICORNI A; MOKIN V; AJMAR F; NOVELLI G
      PARENTAL ORIGIN OF CHROMOSOME-4P DELETION IN WOLF-HIRSCHHORN SYNDROME

      American journal of medical genetics
    68. DEDIESMULDERS C; SCHRANDERSTUMPEL C; FRYNS JP
      FAMILIAL OCCURRENCE OF RENAL AND MULLERIAN DUCT HYPOPLASIA, CRANIOFACIAL ANOMALIES, SEVERE GROWTH AND DEVELOPMENTAL DELAY - A 4P DELETION

      American journal of medical genetics
    69. QUMSIYEH MB; STEVENS CA
      2 SIBS WITH DIFFERENT PHENOTYPES DUE TO ADJACENT-1 SEGREGATION OF A SUBTLE TRANSLOCATION T(4-5)(P16.3-P15.3)MAT

      American journal of medical genetics
    70. DRISCOLL DA; SALVIN J; SELLINGER B; BUDARF ML; MCDONALDMCGINN DM; ZACKAI EH; EMANUEL BS
      PREVALENCE OF 22Q11 MICRODELETIONS IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES - IMPLICATIONS FOR GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS

      Journal of Medical Genetics
    71. WILKIE AOM
      DETECTION OF CRYPTIC CHROMOSOMAL-ABNORMALITIES IN UNEXPLAINED MENTAL-RETARDATION - A GENERAL STRATEGY USING HYPERVARIABLE SUBTELOMERIC DNA POLYMORPHISMS

      American journal of human genetics


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Documento generato il 17/01/21 alle ore 23:51:07