DELETIONS OF GENES AND ANONYMOUS DNA PROBES IN 2 BOYS WITH GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

被引:0
|
作者
WAGNER, K
KROISEL, PM
ROSENKRANZ, W
机构
[1] INST MED BIOL & HUMAN GENET,A-8010 GRAZ,AUSTRIA
[2] UNIV MIAMI,SCH MED,DEPT BIOCHEM & MOLEC BIOL,MIAMI,FL 33136
来源
CYTOGENETICS AND CELL GENETICS | 1991年 / 58卷 / 3-4期
关键词
D O I
暂无
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
引用
下载
收藏
页码:1926 / 1927
页数:2
相关论文
共 44 条
  • [31] Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
    Antonell, A.
    Del Campo, M.
    Magano, L. F.
    Kaufmann, L.
    Martinez de la Iglesia, J.
    Gallastegui, F.
    Flores, R.
    Schweigmann, U.
    Fauth, C.
    Kotzot, D.
    Perez-Jurado, L. A.
    JOURNAL OF MEDICAL GENETICS, 2010, 47 (05) : 312 - 320
  • [32] HIGH-SENSITIVITY INSITU HYBRIDIZATION OF HUMAN SINGLE-COPY GENES USING 2-ACETYL-AMINOFLUORENE (AAF)-MODIFIED DNA PROBES AND REFLECTION CONTRAST MICROSCOPY
    LANDEGENT, JE
    VANOMMEN, GJB
    BAAS, F
    RAAP, AK
    VANDUIJN, P
    VANDERPLOEG, M
    CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4): : 677 - 677
  • [33] Identification of Disease-Transmitting Mosquitoes: Development of Species-Specific Probes for DNA Chip Assay Using Mitochondrial COI and ND2 Genes and Ribosomal Internal Transcribed Spacer 2
    Wang, Xi
    Tu, Wu-Chun
    Huang, En-jiong
    Chen, Yen-Hou
    Chen, Jia-Hua
    Yeh, Wen-Bin
    JOURNAL OF MEDICAL ENTOMOLOGY, 2017, 54 (02) : 396 - 402
  • [34] The Aicardi Goutieres syndrome RNaseH2 genes encode a key genome surveillance enzyme essential for removing ribonucleotides embedded in genomic DNA
    Jackson, Andrew
    Reijns, M. A. M.
    Rabe, B.
    Rigby, R. E.
    Mill, P.
    Astell, K. R.
    Lettice, L. A.
    Boyle, S.
    Leitch, A.
    Keighren, K.
    Kilanowski, F.
    Devenney, P. S.
    Sexton, D.
    Grimes, G.
    Holt, I. J.
    Taylor, M. S.
    Lawson, K. A.
    Dorin, J. R.
    JOURNAL OF MEDICAL GENETICS, 2012, 49 : S31 - S31
  • [35] Patients with clinical criteria for Lynch syndrome with and without mutations in DNA repair genes (MLH1 and MSH2). A challenge for the clinician
    Seijas Tamayo, Raquel
    Martin Gomez, Teresa
    Perez Garcia, Jessica
    Macias Alvarez, Laura
    Sanchez Barba, Mercedes
    Castro Marcos, Elena
    Sanchez Tapia, Eva Maria
    Gonzalez Sarmiento, Rogelio
    Cruz Hernandez, Juan Jesus
    MEDICINA CLINICA, 2011, 137 (04): : 166 - 170
  • [36] Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
    Amira Jaballah-Gabteni
    Haifa Tounsi
    Maria Kabbage
    Yosr Hamdi
    Sahar Elouej
    Ines Ben Ayed
    Mouna Medhioub
    Moufida Mahmoudi
    Hamza Dallali
    Hamza Yaiche
    Nadia Ben Jemii
    Afifa Maaloul
    Najla Mezghani
    Sonia Abdelhak
    Lamine Hamzaoui
    Mousaddak Azzouz
    Samir Boubaker
    Journal of Translational Medicine, 17
  • [37] Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
    Jaballah-Gabteni, Amira
    Tounsi, Haifa
    Kabbage, Maria
    Hamdi, Yosr
    Elouej, Sahar
    Ben Ayed, Ines
    Medhioub, Mouna
    Mahmoudi, Moufida
    Dallali, Hamza
    Yaiche, Hamza
    Ben Jemii, Nadia
    Maaloul, Afifa
    Mezghani, Najla
    Abdelhak, Sonia
    Hamzaoui, Lamine
    Azzouz, Mousaddak
    Boubaker, Samir
    JOURNAL OF TRANSLATIONAL MEDICINE, 2019, 17 (1)
  • [38] Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6in a Greek cohort of Lynch syndrome suspected families
    Georgia Thodi
    Florentia Fostira
    Raphael Sandaltzopoulos
    George Nasioulas
    Anastasios Grivas
    Ioannis Boukovinas
    Maria Mylonaki
    Christos Panopoulos
    Mirjana Brankovic Magic
    George Fountzilas
    Drakoulis Yannoukakos
    BMC Cancer, 10
  • [39] Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families
    Thodi, Georgia
    Fostira, Florentia
    Sandaltzopoulos, Raphael
    Nasioulas, George
    Grivas, Anastasios
    Boukovinas, Ioannis
    Mylonaki, Maria
    Panopoulos, Christos
    Magic, Mirjana Brankovic
    Fountzilas, George
    Yannoukakos, Drakoulis
    BMC CANCER, 2010, 10
  • [40] USE OF DIGOXIGENIN-LABELED OLIGONUCLEOTIDE DNA PROBES FOR VT2 AND VT2 HUMAN VARIANT GENES TO DIFFERENTIATE VERO CYTOTOXIN-PRODUCING ESCHERICHIA-COLI STRAINS OF SEROGROUP-O157
    THOMAS, A
    SMITH, HR
    ROWE, B
    JOURNAL OF CLINICAL MICROBIOLOGY, 1993, 31 (07) : 1700 - 1703