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    1. Pujana, MA; Nadal, M; Gratacos, M; Peral, B; Csiszar, K; Gonzalez-Sarmiento, R; Sumoy, L; Estivill, X
      Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26

      GENOME RESEARCH
    2. Smeets, E; Vandenbossche, L; Fryns, JP
      Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features

      GENETIC COUNSELING
    3. Bartsch, C; Aslan, M; Kohler, J; Miny, P; Horst, J; Holzgreve, W; Rehder, H; Fritz, B
      Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): Further delineation of trisomies 1q

      FETAL DIAGNOSIS AND THERAPY
    4. Petek, E; Kostl, G; Rauter, L; Mutz, I; Wagner, K; Kroisel, PM
      Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter)

      CLINICAL DYSMORPHOLOGY
    5. Vinkesteijn, ASM; Jansen, CLR; Los, FJ; Mulder, PGH; Wladimiroff, JW
      Fetal transcerebellar diameter and chromosomal abnormalities

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    6. Courtens, W; Vroman, S; Vandenhove, J; Wiedemann, U; Schinzel, A
      Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)

      PRENATAL DIAGNOSIS
    7. Morrissette, JJD; Celle, L; Owens, NL; Shields, CL; Zackai, EH; Spinner, NB
      Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Engelen, JJM; Marcelis, CLM; Alofs, MGP; Loneus, WH; Pulles-Heintzberger, CFM; Hamers, AJH
      Brief clinical report - De novo "pure" partial trisomy (6)(p22.1 -> pter) in a chromosome 15 with an enlarged satellite, identified by microdissection

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Wolpert, CM; Donnelly, SL; Cuccaro, ML; Hedges, DJ; Poole, CP; Wright, HH; Gilbert, JR; Pericak-Vance, MA
      De novo partial duplication of chromosome 7p in a male with autistic disorder

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Emberger, W; Petek, E; Kroisel, PM; Zierler, H; Wagner, K
      Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. De Brasi, D; Rossi, E; Giglio, S; D'Agostino, A; Titomanlio, L; Farina, V; Andria, G; Sebastio, G
      Inv dup del (1)(pter -> q44 :: q44 -> q42 :) with the classical phenotype of trisomy 1q42-qter

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Velagaleti, GVN; Lockhart, LH; Schmalstieg, FC; Goldman, AS
      Trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. Sutcliffe, MJ; Mueller, OT; Kousseff, BG; Dumont, DP; McFarland, JA; Mawani, F; Conforto, D; Ranells, JD
      Three cell line mosaicism involving structural and numerical abnormalitiesof chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Hirshfeld, AB; Thompson, WR; Patel, A; Boone, LB; Murphy, AM
      Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Baruch, AC; Erickson, RP
      Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Bird, LM; Mascarello, JT
      Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Stankiewicz, P; Park, SS; Holder, SE; Waters, CS; Palmer, RW; Berend, SA; Shaffer, LG; Potocki, L; Lupski, JR
      Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype

      CLINICAL GENETICS
    18. Back, E; Toder, R; Fuchshuber, A
      De novo inverted duplication of chromosome 7(q21.3 -> q35): cytogenetic diagnosis confirmed by FISH analysis

      CLINICAL GENETICS
    19. Rigola, MA; Carrera, M; Ribas, I; De La Iglesia, C; Mendez, B; Egozcue, J; Fuster, C
      Identification of two de novo partial trisomies by comparative genomic hybridization

      CLINICAL GENETICS
    20. Sabaratnam, M; Turk, J; Vroegop, P
      Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13

      EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
    21. Tuysuz, B; Hacihanefioglu, S; Silahtaroglu, A; Yilmaz, S; Deviren, A; Cenani, A
      Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation

      GENETIC COUNSELING
    22. Cora, T; Acar, H; Oran, B
      A partial trisomy 15q due to 15;17 translocation detected by conventional cytogenetic and FISH techniques

      GENETIC COUNSELING
    23. Van Hemel, JO; Eussen, HJ
      Interchromosomal insertions - Identification of five cases and a review

      HUMAN GENETICS
    24. Tercanli, S; Hosli, I; Berlinger, A; Beyer, R; Achermann, J; Holzgreve, W
      Prenatal diagnosis of a partial trisomy 19q

      PRENATAL DIAGNOSIS
    25. 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
    26. von Kaisenberg, CS; Caliebe, A; Krams, M; Hackeloer, BJ; Jonat, W
      Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Pierpont, MEM; Hentges, AS; Gears, LJ; Hirsch, B; Sinaiko, A
      Unbalanced 4;6 translocation and progressive renal disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Megarbane, A; Gosset, P; Souraty, N; Lapierre, JM; Turleau, C; Vekemans, M; Loiselet, J; Prieur, M
      Chromosome 7q22-q31 duplication: Report of a new case and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Al-Saffar, M; Lemyre, E; Koenekoop, R; Duncan, AMV; Der Kaloustian, VM
      Phenotype of a patient with pure partial trisomy 2p(p23 -> pter)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Celle, L; Lee, L; Rintoul, N; Savani, RC; Long, W; Mennuti, MT; Krantz, ID
      Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Speleman, F; Callens, B; Logghe, K; Van Roy, N; Horsley, SW; Jauch, A; Verschraegen-Spae, MR; Leroy, JG
      Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35 -> qter: Molecular cytogenetic analysis and clinical phenotype intwo generations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Bacino, CA; Kashork, CD; Davino, NA; Shaffer, LG
      Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    33. Faivre, L; Viot, G; Prieur, M; Turleau, C; Gosset, P; Romana, S; Munnich, A; Vekemans, M; Cormier-Daire, V
      Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    34. Loffler, J; Utermann, B; Duba, HC; Mayr, U; Utermann, G; Erdel, M
      Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    35. Mau, UA; Backsch, C; Schaudt, H; Trefz, FK; Kaiser, P
      Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome - Another locus for Brachmann-de Lange syndrome on 4p?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. Bhat, M; Morrison, PJ; Getty, A; McManus, D; Tubman, R; Nevin, NC
      First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH

      AMERICAN JOURNAL OF MEDICAL GENETICS
    37. Angle, B; Hersh, JH; Yen, F; Christensen, KM
      Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion

      AMERICAN JOURNAL OF MEDICAL GENETICS
    38. Aviram-Goldring, A; Fritz, B; Bartsch, C; Steuber, E; Daniely, M; Lev, D; Chaki, R; Barkai, G; Frydman, M; Rehder, H
      Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue

      AMERICAN JOURNAL OF MEDICAL GENETICS
    39. Batanian, JR; Huang, YF; Gottesman, GS; Grange, DK; Blasingame, AV
      Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting

      AMERICAN JOURNAL OF MEDICAL GENETICS
    40. Heller, A; Seidel, J; Hubler, A; Starke, H; Beensen, V; Senger, G; Rocchi, M; Wirth, J; Chudoba, I; Claussen, U; Liehr, T
      Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review

      JOURNAL OF MEDICAL GENETICS
    41. Eussen, BHJ; Bartalini, G; Bakker, L; Balestri, P; Di Lucca, C; Van Hemel, JO; Dauwerse, H; van den Ouweland, AMW; Ris-Stalpers, C; Verhoef, S; Halley, DJJ; Fois, A
      An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

      JOURNAL OF MEDICAL GENETICS
    42. Stankiewicz, P; Bocian, E; Jakubow-Durska, K; Obersztyn, E; Lato, E; Starke, H; Mroczek, K; Mazurczak, T
      Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH

      JOURNAL OF MEDICAL GENETICS
    43. Hastings, RJ; Svennevik, EC; Setterfield, B; Wells, D; Delhanty, JDA; Mackinnon, H
      Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father

      JOURNAL OF MEDICAL GENETICS
    44. Stratakis, CA; Lafferty, A; Taymans, SE; Gafni, RI; Meck, JM; Blancato, J
      Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: Molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503)

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    45. Brady, AF; Waters, CS; Pocha, MJ; Brueton, LA
      Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism

      CLINICAL GENETICS
    46. Chena, C; Sarmiento, M; Palacios, MF; Scolnik, M; Slavutsky, I
      dup(12)(q13-q22) and 13q14 deletion in a case of B-cell chronic lymphocytic leukemia

      ACTA HAEMATOLOGICA
    47. O'Connor, SJM; Su'ut, L; Morgan, GJ; Jack, AS
      The relationship between typical and atypical B-cell chronic lymphocytic leukemia - A comparative genomic hybridization-based study

      AJCP. American journal of clinical pathology
    48. Rothlisberger, B; Kotzot, D; Brecevic, L; Koehler, M; Balmer, D; Binkert, F; Schinzel, A
      Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

      EUROPEAN JOURNAL OF HUMAN GENETICS
    49. Mohrschladt, MF; Bijlsma, EK; Sluijter, S; De Coo, RFM; Hoovers, JMN; Leschot, NJ
      A patient with a de novo t(6;9) and an interstitial duplication of (9)(q21.2q22.1)

      CLINICAL DYSMORPHOLOGY
    50. Lukusa, T; Devriendt, K; Jaeken, J; Fryns, JP
      Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation

      CLINICAL DYSMORPHOLOGY
    51. Shapiro, BL
      The Down Syndrome critical region

      JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
    52. de Alba, MR; Sanz, R; Lorda-Sanchez, I; Fernandez-Moya, JM; Ayuso, C; Diaz-Recasens, J; Ramos, C
      Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

      PRENATAL DIAGNOSIS
    53. Chen, CP; Chern, SR; Lee, CC; Town, DD; Chen, WL; Wang, WS
      Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3 : 1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)

      PRENATAL DIAGNOSIS
    54. Goodman, BK; Stone, K; Coddett, JM; Cargile, CB; Gurewitsch, ED; Blakemore, KJ; Stetten, G
      Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat

      PRENATAL DIAGNOSIS
    55. Starke, H; Schreyer, I; Kahler, C; Fiedler, W; Beensen, V; Heller, A; Nietzel, A; Claussen, U; Liehr, T
      Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8

      PRENATAL DIAGNOSIS
    56. Jay, A; Kilby, MD; Roberts, E; Brackley, K; Platt, C; McHugo, J; Davison, EV
      Prenatal diagnosis of mosaicism for partial trisomy 8: A case report including fetal pathology

      PRENATAL DIAGNOSIS
    57. Han, JY; Kim, KH; Lee, HD; Moon, SY; Shaffer, LG
      De novo direct duplication of 15q15 -> q24 in a newborn boy with mild manifestations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    58. Cai, T; Yu, P; Tagle, DA; Xia, JH
      Duplication of 7p21.2 -> pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    59. Shashi, V; Berry, MN; Santos, C; Pettenati, MJ
      Partial duplication of 4q12q13 leads to a mild phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    60. Seidahmed, MZ; Rooney, DE; Salih, MAM; Basit, OBA; Shaheed, MM; Abdullah, MA; Abomelha, A
      Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smithsyndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    61. Giardino, D; Bettio, D; Gottardi, G; Rizzi, N; Pierluigi, M; Perfumo, C; Cali, A; Bricarelli, FD; Larizza, L
      FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    62. Mowat, D; Jauch, A; Robson, L; Smith, A
      Duplication within chromosome 5q characterized by fluorescence in situ hybridization

      AMERICAN JOURNAL OF MEDICAL GENETICS
    63. Zaslav, AL; Fallet, S; Blumenthal, D; Jacob, J; Fox, J
      Mosaicism with a normal cell line and an unbalanced structural rearrangement

      AMERICAN JOURNAL OF MEDICAL GENETICS
    64. Bokemeier, M; Bartz, UG; Bohlander, SK
      Partial trisomy 7q32 -> qter and partial monosomy 17p13 -> pter infamilialtranslocation

      MONATSSCHRIFT KINDERHEILKUNDE
    65. Valero, R; Marfany, G; Gil-Benso, R; Ibanez, MD; Lopez-Pajares, I; Prieto, F; Rul-lan, G; Sarret, E; Gonzalez-Duarte, R
      Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR

      JOURNAL OF MEDICAL GENETICS
    66. Delatycki, MB; Voullaire, L; Francis, D; Petrovic, V; Robertson, A; Webber, LM; Slater, HR
      Directly inherited partial trisomy of chromosome 6p identified in a fatherand daughter by chromosome microdissection

      JOURNAL OF MEDICAL GENETICS
    67. Gentile, M; Buonadonna, AL; Cariola, F; Fiorente, P; Valenzano, MC; Guanti, G
      Molecular and cytogenetic characterisation of an unusual case of partial trisomy partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)

      JOURNAL OF MEDICAL GENETICS
    68. Morelli, SH; Deubler, DA; Brothman, LJ; Carey, JC; Brothman, AR
      Partial trisomy 17p detected by spectral karyotyping

      CLINICAL GENETICS
    69. Kalsi, G; Mankoo, B; Curtis, D; Sherrington, R; Melmer, G; Brynjolfsson, J; Sigmundsson, T; Read, T; Murphy, P; Petersson, H; Gurling, H
      New DNA markers with increased informativeness show diminished support fora chromosome 5q11-13 schizophrenia susceptibility locus and exclude linkage in two new cohorts of British and Icelandic families

      ANNALS OF HUMAN GENETICS
    70. Lukusa, T; Devriendt, K; Fryns, JP
      A 3p deletion syndrome in a child with both del(3)(p25 -> pter) and dup(17)(q23 -> qter)

      ANNALES DE GENETIQUE
    71. KODAMA T; SHIBUYA Y; SETOGAWA T; HASEGAWA Y; YAMAGUCHI S; HIRAYAMA Y
      A CASE OF MICROPHTHALMOS WITH CYST AND PARTIAL TRISOMY-22

      Ophthalmic genetics
    72. BABOVICVUKSANOVIC D; WESTMAN JA; JALAL SM; LINDOR NM
      CLINICAL CHARACTERISTICS ASSOCIATED WITH DUP17(Q24Q25.1) IN A MOSAIC MOTHER AND 2 NON-MOSAIC DAUGHTERS

      Clinical dysmorphology
    73. ANDREASSON P; HOGLUND M; JONSON T; BEKASSY A; MITELMAN F; JOHANSSON B
      MOLECULAR CHARACTERIZATION OF JUMPING TRANSLOCATIONS REVEALS SPATIAL AND TEMPORAL BREAKPOINT HETEROGENEITY

      Leukemia
    74. Sabbatino, MS; Melis, D; Della Casa, R; D'Agostino, A; Cascioli, MC; Parenti, G
      Unbalanced translocation with partial 6p trisomy and partial 11q monosomy:a case report

      RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS
    75. Chen, CP; Lee, CC; Pan, CW; Kir, TY; Chen, BF
      Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis

      PRENATAL DIAGNOSIS
    76. Witters, I; Van Buggenhout, G; Moerman, P; Fryns, JP
      Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiography

      PRENATAL DIAGNOSIS
    77. BATANIAN JR; ESWARA MS
      DE-NOVO APPARENTLY BALANCED COMPLEX CHROMOSOME REARRANGEMENT (CCR) INVOLVING CHROMOSOME-4, CHROMOSOME-18, AND CHROMOSOME-21 IN A GIRL WITH MENTAL-RETARDATION - REPORT AND REVIEW

      American journal of medical genetics
    78. KOZMA C; BLANCATO J; MECK J; JIANG Y
      CHARACTERIZATION OF A SUPERNUMERARY MARKER DERIVED FROM CHROMOSOME-17BY MICRODISSECTION IN AN ADULT WITH MR MCA/

      American journal of medical genetics
    79. LI SY; GIBSON LH; GOMEZ K; POBER BR; YANGFENG TL
      FAMILIAL DUP(5)(Q15Q21) ASSOCIATED WITH NORMAL AND ABNORMAL PHENOTYPES

      American journal of medical genetics
    80. Lukusa, T; Fryns, JP
      Syndrome of facial, oral, and digital anomalies due to 7q21.2 -> q22.1 duplication

      AMERICAN JOURNAL OF MEDICAL GENETICS
    81. WIECZOREK D; ENGELS H; VIERSBACH R; HENKE B; SCHWANITZ G; PASSARGE E
      ANALYSIS OF A FAMILIAL 3 WAY TRANSLOCATION INVOLVING CHROMOSOMES 3Q, 6Q, AND 15Q BY HIGH-RESOLUTION BANDING AND FLUORESCENT IN-SITU HYBRIDIZATION (FISH) SHOWS 2 DIFFERENT UNBALANCED KARYOTYPES IN SIBS

      Journal of Medical Genetics
    82. Lukusa, T; Van Buggenhout, G; Devriendt, K; Meireleire, J; Van Goethem, G; Roelen, L; Fryns, JP
      Zygodactyly as the most striking physical anomaly in an adult male patientwith pure partial trisomy 1q.

      ANNALES DE GENETIQUE
    83. MADAN K; NIEUWINT AWM; VANBEVER Y
      RECOMBINATION IN A BALANCED COMPLEX TRANSLOCATION OF A MOTHER LEADINGTO A BALANCED RECIPROCAL TRANSLOCATION IN THE CHILD - REVIEW OF 60 CASES OF BALANCED COMPLEX TRANSLOCATIONS

      Human genetics
    84. NEKARDA T; KECECIOGLU D; KEHL HG; GEHRMANN J; MINY P; VOGT J
      A RARE COMBINATION OF PARTIAL TRISOMY-9 A ND PULMONARY ATRESIA

      Klinische Padiatrie
    85. TARDY EP; TOTH A; KOSZTOLANYI G
      PRENATAL EXCLUSION OF SEGMENTAL TRISOMY IN FAMILIAL CHROMOSOME-21 PERICENTRIC-INVERSION BY FLUORESCENCE IN-SITU HYBRIDIZATION

      Prenatal diagnosis
    86. MATOS A; NOGUEIRA A; CRIADO B; PEREIRA S; CASTEDO S; MONTENEGRO N
      PRENATAL-DIAGNOSIS OF PARTIAL TRISOMY 2Q - CASE-REPORT

      Prenatal diagnosis
    87. WINSOR SHM; MCGRATH MJ; KHALIFA M; DUNCAN AMV
      A REPORT OF RECURRENT ANENCEPHALY WITH TRISOMY 2P23-2PTER - ADDITIONAL EVIDENCE FOR THE INVOLVEMENT OF 2P24 IN NEURAL-TUBE DEVELOPMENT AND EVALUATION OF THE ROLE FOR CYTOGENETIC ANALYSIS

      Prenatal diagnosis
    88. CHEN CP; LIN CC; CHUANG CY; LEE CC; CHEN WL; JAN SW; LIN SP
      PRENATAL-DIAGNOSIS OF PARTIAL TRISOMY-12 AND PARTIAL TRISOMY-21 DUE TO A 3 1-SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION T(12-21) (P13.3-Q21)/

      Prenatal diagnosis
    89. XU J; CHERNOS J; ROLAND B
      TRISOMY 16PTER TO 16Q12.1 AND MONOSOMY 22PTER TO 22Q11.2 RESULTING FROM ADJACENT-2 SEGREGATION OF A MATERNAL COMPLEX CHROMOSOME REARRANGEMENT

      American journal of medical genetics
    90. ROTHENMUND H; CHUDLEY AE; DAWSON AJ
      FAMILIAL TRANSMISSION OF A SMALL SUPERNUMERARY MARKER CHROMOSOME08 IDENTIFIED BY FISH - AN UPDATE

      American journal of medical genetics
    91. CHEN Z; GREBE TA; GUAN XY; NOTOHAMIPRODJO M; NUTTING PJ; STONE JF; TRENT JM; SANDBERG AA
      MATERNAL BALANCED TRANSLOCATION LEADING TO PARTIAL DUPLICATION OF 4Q AND PARTIAL DELETION OF IP IN A SON - CYTOGENETIC AND FISH STUDIES USING BAND-SPECIFIC PAINTING PROBES GENERATED BY CHROMOSOME MICRODISSECTION

      American journal of medical genetics
    92. SARRI C; GYFTODIMOU J; AVRAMOPOULOS D; GRIGORIADOU M; PEDERSEN W; PANDELIA E; PANGALOS C; ABAZIS D; KITSOS G; VASSILOPOULOS D; BRONDUMNIELSEN K; PETERSEN MB
      PARTIAL TRISOMY 17Q22-QTER AND PARTIAL MONOSOMY XQ27-QTER IN A GIRL WITH A DE-NOVO UNBALANCED TRANSLOCATION DUE TO A POSTZYGOTIC ERROR - CASE-REPORT AND REVIEW OF THE LITERATURE ON PARTIAL TRISOMY 17QTER

      American journal of medical genetics
    93. DOHENY KF; RASMUSSEN SA; RUTBERG J; SEMENZA GL; STAMBERG J; SCHWARTZ M; BATISTA DAS; STETTEN G; THOMAS GH
      SEGREGATION OF A FAMILIAL BALANCED (12-10) INSERTION RESULTING IN DUP(10)(Q21.2Q22.1) AND DEL(10)(Q21.2Q22.1) IN FIRST COUSINS

      American journal of medical genetics
    94. LORDASANCHEZ I; URIOSTE M; VILLA A; CARRASCOSA MD; VAZQUEZ MS; MARTINEZ A; MARTINEZFRIAS ML
      PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION

      American journal of medical genetics
    95. JUAN JLC; CIGUDOSA JC; GOMEZ AO; ALMEIDA MTA; MIRANDA JLG
      DE-NOVO TRISOMY 16P

      American journal of medical genetics
    96. MORRISON PJ; SMITH NM; MARTIN KE; YOUNG ID
      MOSAIC PARTIAL TRISOMY-17 DUE TO A RING CHROMOSOME IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION

      American journal of medical genetics
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/01/21 alle ore 02:44:49