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ChromosOmics - Database
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- mFISH - CENTROMERIC & SINGLE COPY
PROBES-
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SOME
FACTS
mFISH methods can be performed using locus-specific
single-copy (i.e. cosmids, P1-clones, BACs, YACs) - as
mentioned above for the “chromosome bar code” . Apart
from applications for special scientific approaches like
the characterization of chromosomal sub-regions using
mFISH on chromosome fibers (fiber-FISH) [Duell et al.,
1997; Conti et al., 2007] locus-specific probes are used
in some special mFISH approaches, mostly without,
sometimes together with centromeric probes. Also
centromeric probes can be applied seperately in mFISH.
- Duell T, Nielsen LB,
Jones A, Young SG, Weier HU (1997) Construction of
two near-kilobase resolution restriction maps of
the 5' regulatory region of the human
apolipoprotein B gene by quantitative DNA fiber
mapping (QDFM). Cytogenet Cell Genet 79: 64-70.
- Conti C, Herrick J,
Bensimon A (2007) Unscheduled DNA replication
origin activation at inserted HPV 18 sequences in
a HPV-18/MYC amplicon. Genes Chromosomes Cancer
46:724-734.
- Kosyakova N, Grigorian A,
Liehr T, Manvelyan M, Simonyan I, Mkrtchyan H,
Aroutiounian R, Polityko AD, Kulpanovich AI,
Egorova T, Jaroshevich E, Frolova A, Shorokh N,
Naumchik IV, Volleth M, Schreyer I, Nelle H, Stumm
M, Wegner RD, Reising-Ackermann G, Merkas M,
Brecevic L, Martin T, Rodríguez L, Bhatt S,
Ziegler M, Kreskowski K, Weise A, Sazci A,
Vorsanova S, Cioffi Mde B, Ergul E (2013)
Heteromorphic variants of chromosome 9. Mol
Cytogenet 6:14.
- Malinverni AC, Colovati
ME, Perez AB, Caneloi TP, Oliveira Jr HR,
Kosyakova N, Liehr T, Hamid AB, Melaragnom MI
(2016) Unusual duplication in the pericentric
region of chromosome 9 in a patient with
phenotypic alterations. Cytogenet Genome Res 150:
100-105.
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mFISH using single
copy probes Sub-telomeric probes
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In up to 6% of patients with
iodiopathic mental retardation cryptic subtelomeric
translocations or deletions can be detected. The
integration of subtelomeric probes in M-FISH has been
suggested, because subtelomeric sequences are often
underrepresented in whole chromosome painting probes.
- Brown J, Horsley SW, Jung
C, Saracoglu K, Janssen B, Brough M, Daschner M,
Beedgen B, Kerkhoffs G, Eils R, Harris PC, Jauch A,
Kearney L (2000) Identification of a subtle
t(16;19)(p13.3;p13.3) in an infant with multiple
congenital abnormalities using a 12-colour multiplex
FISH telomere assay, M-TEL. Eur J Hum Genet 8:
903-910.
- Brown J, Saracoglu K, Uhrig
S, Speicher MR, Eils R, Kearney L (2001).
Subtelomeric chromosome rearrangements are detected
using 12-colour multiplex FISH assay (M-TEL). Nature
Med 7(4), 5-9
- Codina-Pascual M, Kraus J,
Speicher MR, Oliver-Bonet M, Murcia V, Sarquella J,
Egozcue J, Navarro J, Benet J (2004)
Characterization of all human male synaptonemal
complexes by subtelomere multiplex-FISH. Cytogenet
Genome Res 107: 18-21.
- Colleaux L, Heuertz S,
Molinari F, Rio M. Fluorescence Genotyping for
Screening Cryptic Telomeric Rearrangements. In:
Molecular Cytogenetics - Protocols and Applications.
Ed. Fan Y-S. pp 181-190.
- Engels H, Ehrbrecht A, Zahn
S, Bosse K, Vrolijk H, White S, Kalscheuer V,
Hoovers JM, Schwanitz G, Propping P, Tanke HJ,
Wiegant J, Raap AK (2003) Comprehensive analysis of
human subtelomeres with combined binary ratio
labelling fluorescence in situ hybridisation. Eur J
Hum Genet. 11: 643-651.
- Girirajan S, Rosenfeld JA,
Cooper GM, Antonacci F, Siswara P, Itsara A, Vives
L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd
JM, Browning SR, Browning BL, Dickel DE, Levy DL,
Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee
JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg
BP, Ellingwood SA, Smith R, Banks VC, Smith W,
McDonald MT, Hoo JJ, French BN, Hudson C, Johnson
JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF,
El-Khechen D, Gorski JL, Kussmann J, Salbert B,
Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH,
Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera
M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC,
Shaffer LG, Eichler EE (2010) A recurrent
16p12.1 microdeletion supports a two-hit model for
severe developmental delay. Nat Genet. 42:203-209.
- Granzow M, Popp S, Keller
M, Holtgreve-Grez H, Brough M, Schoell B,
Rauterberg-Ruland I, Hager HD, Tariverdian G, Jauch
A (2000) Multiplex FISH telomere integrity assay
identifies an unbalanced cryptic translocation
der(5)t(3;5)(q27;p15.3) in a family with three
mentally retarded individuals. Hum Genet 107: 51-57.
- Henegariu O, Artan S,
Greally JM, Chen X-N, Korenberg JR, Vance GH, Stubbs
L, Bray-Ward Pand, Ward DC (2001) Cryptic
translocation identification in human and mouse
using several telomeric multiplex FISH (TM-FISH)
strategies. Lab Invest 81: 483-491.
- Henegariu O, Dunai J, Chen
XN, Korenberg JR, Ward DC, Greally JM (2001) A
triple color FISH technique for mouse chromosome
identification. Mamm Genome 12: 462-465.
- Knight SJL, Flint J (2002)
Multi-Telomere FISH. In: Molecular Cytogenetics -
Protocols and Applications. Ed. Fan Y-S. pp 155-180.
- Pettenati MJ, Von Kap-Herr
C, Jackle B, Bobby P, Mowrey, Schwartz S, Rao, PN,
Rosnes J (2002) Rapid interphase analysis for
prenatal diagnosis of translocation carriers using
subtelomeric probes. Prenat Diag 22: 193-197.
- Popp S, Schulze B, Granzow
M, Keller M, Holtgreve-Grez H, Schoell B, Brough M,
Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A
(2002) Study of 30 patients with unexplained
developmental delay and dysmorphic features or
congenital abnormalities using conventional
cytogenetics and multiplex FISH telomere (M-TEL)
integrity assay. Hum Genet 111: 31-39.
- Saracoglu K, Brown J,
Kearney L, Uhrig S, Azofeifa J, Fauth C, Speicher
MR, Eils R (2001) New concepts to improve resolution
and sensitivity of molecular cytogenetic diagnostics
by multicolor fluorescence in situ hybridization.
Cytometry 44: 7-15.
- Stewenius Y, Tanke HJ,
Wiegant J, Gisselsson D (2006) Cryptic terminal
chromosome rearrangements in colorectal carcinoma
cell lines detected by subtelomeric FISH analysis.
Cytogenet Genome Res 114:257-262.
- Pettenati MJ, Von Kap-Herr
C, Jackle B, Bobby P, Mowrey, Schwartz S, Rao, PN,
Rosnes J (2002) Rapid interphase analysis for
prenatal diagnosis of translocation carriers using
subtelomeric probes. Prenat Diag 22: 193-197.
- Popp S, Schulze B, Granzow
M, Keller M, Holtgreve-Grez H, Schoell B, Brough M,
Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A
(2002) Study of 30 patients with unexplained
developmental delay and dysmorphic features or
congenital abnormalities using conventional
cytogenetics and multiplex FISH telomere (M-TEL)
integrity assay. Hum Genet 111: 31-39.
- Steinberg KM, Antonacci F,
Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M,
Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo
TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd
KK, Tishkoff SA, Eichler EE (2012) Structural
diversity and African origin of the 17q21.31
inversion polymorphism. Nat Genet 44:872-880.
- Stewenius Y, Tanke HJ,
Wiegant J, Gisselsson D (2006) Cryptic terminal
chromosome rearrangements in colorectal carcinoma
cell lines detected by subtelomeric FISH analysis.
Cytogenet Genome Res 114:257-262.
- Rooms L, Reyniers E, Kooy
RF( 2005) Subtelomeric rearrangements in the
mentally retarded: a comparison of detection
methods. Hum Mutat 25 :513-524.
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“MultiFISH” assay
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Simultaneous
detection of microdeletion and contiguous
gene-deletion syndromes Prader-Willi/Angelman-
(15q11-13), Williams-Beuren- (7q11.23), Smith-Magenis-
(17p11.2) and DiGeorge/velocardiofacial (22q11.2)
syndromes .
- Ligon AH, Beaudet AL,
Shaffer LG (1997) Simultaneous, multilocus FISH
analysis for detection of microdeletions in the
diagnostic evaluation of developmental delay and
mental retardation. Am J Hum Genet 61: 51-59.
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mFISH
in amniocytes and for PGD |
- Cowans NJ, Spencer K (2007)
Is there an association between maternal ABO and
rhesus blood groups and the first-trimester serum
markers free beta-hCG and PAPP-A used for the
detection of fetal aneuploidy? Prenat Diagn
27:64-67.
- Eiben B, Trawicki W,
Hammans W, Goebel R, Pruggmayer M, Epplen JT (1999)
Rapid prenatal diagnosis of aneuploidies in
uncultured amniocytes by fluorescence in situ
hybridization. Evaluation of >3,000 cases. Fetal
Diagn Ther 14: 193-197.
- Fung J, Weier HU, Goldberg
JD, Pedersen RA (2000) Multilocus genetic analysis
of single interphase cells by spectral imaging. Hum
Genet 107: 615-622.
- Fung J, Weier H-U G,
Pedersen RA, Zitzelsberger HF (2002) Spectral
analysis of metaphase and interphase cells. In:
FISH-Technology, Springer-labmanual, Springer,
Berlin, pp 363-387, ISBN: 3-540-67276-1.
- Harper JC, Wells D (1999)
Recent advances and future developments in PGD.
Prenat Diagn 19: 1193-1199.
- Liehr T, Schreyer I,
Neumann A, Beensen V, Ziegler M, Hartmann I, Starke
H, Heller A, Nietzel A, Claussen U (2001) Two more
pitfalls of rapid prenatal diagnostics using the
interphase nuceli. Prenat Diagn 22: 497-499.
- Liehr T, Nietzel A, Rocchi
M, Heller A, Starke H, Claussen U, v Eggeling F
(2002) Centromere-specific multicolor-FISH
(cenM-FISH) followed by analysis for uniparental
disomy - a useful tool in prenatal diagnosis. In:
Early prenatal diagnosis, fetal cells and DNA in the
mother - present state and perpectives. The
Karolinum Press, Prag, pp 293-300, ISBN:
80-246-0397-7.
- Liehr T, Beensen V,
Hauschild R, Ziegler M, Hartmann I, Starke H, Heller
A, Christine K, Matthias S, Wolfgang R, Martin H,
Claussen U (2001) Pitfalls of rapid prenatal
diagnostics in the interphase nucelus. Prenat Diagn
21: 419-421.Magli MC, Gianaroli L, Munne S,
Ferraretti AP (1998) Incidence of chromosomal
abnormalities from a morphologically normal cohort
of embryos in poor-prognosis patients. J Assist
Reprod Genet 15: 297-301.
- Munné S, Sepulveda S,
Balmaceda J, Fernandez E, Fabres C, Mackenna A,
Lopez T, Crosby JA, Zegers-Hochschild F (2001)
Selection of the most common chromosome
abnormalities in oocytes prior to ICSI. Prenat Diagn
20: 582-586.
- Nietzel A, Rocchi M, Starke
H, Heller A, Fiedler W, Wlodarska I, Loncarevic I,
Beensen V, Claussen U, Liehr T (2001) A new
multicolor-FISH approach for the characterization of
marker chromosomes: Centromere-specific
multicolor-FISH (cenM-FISH). Hum Genet 108: 199-204.
- Rodriguez de Alba M,
Gonzales-Gonzales C, Palmino P, Lorda-Sanchez I,
Trujillo MJ, Garcia-Hoyos M, Ayuso C, Diaz-Recasens
J, Ramos C (2002) Three-year experience in the
diagnosis on fetal cells in maternal blood. In:
Early prenatal diagnosis, fetal cells and DNA in the
mother - present state and perpectives. The
Karolinum Press, Prag, pp 109-120, ISBN:
80-246-0397-7.
- Thilaganathan B, Sairam S,
Ballard T, Peterson C, Meredith R (2000)
Effectiveness of prenatal chromosomal analysis using
multicolor fluorescent in situ hybridisation. BJOG
107: 262-266.
- Verlinsky Y, Kuliev A
(2000) An Atlas of Preimplantation Genetic
Diagnosis: An illustrated textbook and reference for
clinicians (The Encyclopedia of Visual Medicine
Series), Parthenon Pub Group.
- Weier JF, Ferlatte C,
Baumgartner A, Jung CJ, Nguyen HN, Chu LW, Pedersen
RA, Fisher SJ, Weier HU (2006) Molecular cytogenetic
studies towards the full karyotype analysis of human
blastocysts and cytotrophoblasts. Cytogenet Genome
Res 114:302-311.
- Wilton L (2002)
Preimplantation genetic diagnostis for aneuploidy
screening in early human embryos: a review. Prenat
Diagn 22: 512-518.
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multi-target mFISH
for clinical
cytogenetics
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- Guan
J, Liu H, Shi X, Feng S, Huang B (2017) Tracking
multiple genomic elements using correlative CRISPR
imaging and sequential DNA FISH. Biophys J
112:1077-1084.
- Kang
JU, Koo SH, Kwon KC, Park JW, Jung SS (2008) Gain of
the EGFR gene located on 7p12 is a frequent and
early event in squamous cell carcinoma of the lung.
Cancer Genet Cytogenet 184:31-37.
- Liehr T, Mrasek K, Starke
H, Claussen U, Schreiber G (2005) Unusual small
supernumerary marker chromosome (sSMC) 9 in a
Klinefelter patient. Cytogenet Genome Res 111:
179-181.
- Liehr T, Brude E,
Gillessen-Kaesbach G, Konig R, Mrasek K, von
Eggeling F, Starke H (2005) Prader-Willi syndrome
with a karyotype 47,XY,+min(15)(pter->q11.1:) and
maternal UPD 15--case report plus review of similar
cases. Eur J Med Genet 48: 175-181.
- Ogur G, Van Assche E,
Liebaers I (2002) Preclinical work-up of
preimplantation genetic diagnosis for chromosomal
translocation carriers. In: Early prenatal
diagnosis, fetal cells and DNA in the mother -
present state and perpectives. The Karolinum Press,
Prag, pp 236-253, ISBN: 80-246-0397-7.
- Shimizu N, Maekawa M, Asai
S, Shimizu Y (2015) Multicolor FISHs for
simultaneous detection of genes and DNA segments on
human chromosomes. Chromosome Res 23: 649-662.
- Starke H, Nietzel A, Weise
A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth
M, Albrecht B, Mitulla B, Trappe R, Bartels I,
Adolph S, Dufke A, Singer S, Stumm M, Wegner RD,
Seidel J, Schmidt A, Kuechler A, Schreyer I,
Claussen U, von Eggeling F, Liehr T (2003) Small
supernumerary marker chromosomes (SMCs):
genotype-phenotype correlation and classification.
Hum Genet 114:51-67.
- von Beust G, Sauter SM,
Liehr T, Burfeind P, Bartels I, Starke H, von
Eggeling F, Zoll B (2005) Molecular cytogenetic
characterization of a de novo supernumerary ring
chromosome 7 resulting in partial trisomy,
tetrasomy, and hexasomy in a child with dysmorphic
signs, congenital heart defect, and developmental
delay. Am J Med Genet A 137: 59-64.
- Weise A, Rittinger O,
Starke H, Ziegler M, Claussen U, Liehr T (2003) De
novo 9-break-event in one chromosome 21 combined
with a microdeletion in 21q22.11 in a mentally
retarded boy with short stature. Cytogenet Genome
Res 103:14-16.
- Yoshimoto M, Ludkovski O,
DeGrace D, Williams JL, Evans A, Sircar K, Bismar
TA, Nuin P, Squire JA (2012) PTEN genomic deletions
that characterize aggressive prostate cancer
originate close to segmental duplications. Genes
Chromosomes Cancer 51:149-160
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multi-target
mFISH for tumor
cytogenetics
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- Abo-Zeid MA, Liehr T,
El-Daly SM, Gamal-Eldeen AM, Glei M, Shabaka A,
Bhatt S, Hamid A (2013) Molecular cytogenetic
evaluation of the efficacy of photodynamic therapy
by Indocyanine Green in breast adenocarcinoma MCF-7
cells. Photodiagn Photodynam Therapy 10:194-202.
- Blandin AT, Mühlematter D,
Bougeon S, Gogniat C, Porter S, Beyer V, Parlier V,
Beckmann JS, van Melle G, Jotterand M (2008)
Automated four-color interphase fluorescence in situ
hybridization approach for the simultaneous
detection of specific aneuploidies of diagnostic and
prognostic significance in high hyperdiploid acute
lymphoblastic leukemia. Cancer Genet Cytogenet
186:69-77.
- Caraway NP, Thomas E,
Khanna A, Payne L, Zhang HZ, Lin E, Keating MJ, Katz
RL (2008) Chromosomal abnormalities detected by
multicolor fluorescence in situ hybridization in
fine-needle aspirates from patients with small
lymphocytic lymphoma are useful for predicting
survival. Cancer 114:315-322.
- De Melo VA, Milojkovic D,
Marin D, Apperley JF, Nacheva EP, Reid AG (2008)
Deletions adjacent to BCR and ABL1 breakpoints occur
in a substantial minority of chronic myeloid
leukemia patients with masked Philadelphia
rearrangements. Cancer Genet Cytogenet 182:111-115
- Horsley SW, Colman S,
McKinley M, Bateman CM, Jenney M, Chaplin T, Young
BD, Greaves M, Kearney L (2008) Genetic lesions in a
preleukemic aplasia phase in a child with acute
lymphoblastic leukemia. Genes Chromosomes Cancer
47:333-340.
- Kang JU, Koo SH, Jeong TE,
Kwon KC, Park JW, Jeon CH (2006) Multitarget
fluorescence in situ hybridization and melanoma
antigen genes analysis in primary bladder carcinoma.
Cancer Genet Cytogenet 164: 32-38
- Jin C, Jin Y, Gisselsson D,
Wennerberg J, Wah TS, Stromback B, Kwong YL, Mertens
F (2006) Molecular cytogenetic characterization of
the 11q13 amplicon in head and neck squamous cell
carcinoma. Cytogenet Genome Res 115:99-106
- Liou LS, Pettay JD, Tubbs
RR (2002) Interphase fluorescence in-situ
hybridization in the diagnosis of bladder cancer.
Front Biosci. 7: E27-32.
- Nagai T, Okamura T, Yanase
T, Chaya R, Moritoki Y, Kobayashi D, Akita H, Yasui
T (2019) Examination of diagnostic accuracy of
UroVysion fluorescence in situ hybridization for
bladder cancer in a single community of Japanese
hospital patients. Asian Pac J Cancer Prev
20:1271-1273.
- Saez B, Martin-Subero JI,
Lahortiga I, Largo C, Larrayoz MJ, Odero MD, Prosper
F, Cigudosa JC, Siebert R, Calasanz M (2007)
Simultaneous translocations of FGFR3/MMSET and CCND1
into two different IGH alleles in multiple myeloma:
lack of concurrent activation of both
proto-oncogenes. Cancer Genet Cytogenet 175:65-68.
- Yoshimoto M, Ludkovski O,
Good J, Pereira C, Gooding RJ, McGowan-Jordan J,
Boag A, Evans A, Tsao MS, Nuin P, Squire JA (2018)
Use of multicolor fluorescence
in situ hybridization to detect deletions
in clinical tissue sections. Lab Invest 98:403-413.
- Zhang YG, Bi XG, Han YL,
Cai Y, Xu X, Wu YP, Yang YL, Ma JH, Zhao P, Jia XM,
Wang MR (2007) [Detection of urothelial carcinoma of
the urinary bladder by multicolor fluorescence in
situ hybridization] Ai Zheng 26:189-193. Chinese.
- Zhang S, Wang Y, Bondaruk
J, Majewski T, Yao H, Lee S, Lee JG, Cogdell D,
Lotan Y, Dinney C, Wei P, Baggerly K, Czerniak B
(2018) Detection of bladder cancer in urine
sediments by a novel multicolor fluorescence in situ
hybridization (Quartet) test. Eur Urol Focus 2019
Jul;5(4):664-675.
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mFISH
used for mapping
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- Puget N, Gad S,
Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D,
Lenoir GM, Mazoyer S (2002) Distinct BRCA1
rearrangements involving the BRCA1 pseudogene
suggest the existence of a recombination hot spot.
Am J Hum Genet 70: 858-865.
- Zhou B, Mo X, Liu X, Qiu W,
Yen Y (2001) Human ribonucleotide reductase M2
subunit gene amplification and transcriptional
regulation in a homogeneous staining chromosome
region responsible for the mechanism of drug
resistance. Cytogenet Cell Genet 95: 34-42.
- Yang S, Illner D, Teller K,
Solovei I, van Driel R, Joffe B, Cremer T, Eils R,
Rohr K (2008) Structural analysis of interphase
X-chromatin based on statistical shape theory.
Biochim Biophys Acta 1783:2089-2099.
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mFISH using alphoid /
centromeric probes
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- Al-Achkar W, Wafa A, Assaad
M, Ehlers C, Liehr T (2013) A unique case of female
pseudohermaphroditism with 21-hydroxylase deficiency
and small supernumerary marker chromosome 7. Mol Med
Rep 2013, 7: 1545-1548.
- Barber JC, Hall V, Maloney
VK, Huang S, Roberts AM, Brady AF, Foulds N, Bewes
B, Volleth M, Liehr T, Mehnert K, Bateman M, White H
(2013) 16p11.2-p12.2 duplication syndrome; a genomic
condition differentiated from euchromatic variation
of 16p11.2. Eur J Hum Genet 21:182-189.
- Brecevic L, Michel S,
Starke H, Muller K, Kosyakova N, Mrasek K, Weise A,
Liehr T (2006) Multicolor FISH used for the
characterization of small supernumerary marker
chromosomes (sSMC) in commercially available
immortalized cell lines. Cytogenet Genome Res
114:319-324.
- Gutiérrez-Mateo C, Benet J,
Starke H, Oliver-Bonet M, Munné S, Liehr T, Navarro
J (2005) Karyotyping of human oocytes by cenM-FISH,
a new 24-colour centromere-specific technique. Hum
Reprod 20:3395-3401.
- Henegariu O, Bray-Ward P,
Artan S, Vance GH, Qumsyieh M, Ward DC (2001) Small
marker chromosome identification in metaphase and
interphase using centromeric multiplex FISH
(CM-FISH). Lab Invest 81: 475-481.
- Ioannou D, Meershoek EJ,
Thornhill AR, Ellis M, Griffin DK (2011) Multicolour
interphase cytogenetics: 24 chromosome probes, 6
colours, 4 layers. Mol Cell Probes 25: 199-205.
- Kitsiou-Tzeli S, Manolakos
E, Lagou M, Kontodiou M, Kosyakova N, Ewers E, Weise
A, Garas A, Orru S, Liehr T, Metaxotou A (2009)
Characterization of a prenatally assessed de novo
supernumerary minute ring chromosome 20 in a
phenotypically normal male. Mol Cytogenet 2:1.
- König K, Göhlert A, Liehr
T, Loncarevic IF, Riemann I (2000a) Two-Photon
Multicolor FISH: a versatile technique to detect
specific sequences with in single DNA molecules in
cells and tissues. Single Molecules 1: 41-51.
- König K, Riemann I, Fischer
P, Halbhuber KJ (2000b) Multiplex FISH and
three-dimensional DNA imaging with near infrared
femtosecond laser pulses. Histochem Cell Biol
114:337-345.
- Langer S, Fauth C, Rocchi
M, Murken J, Speicher M (2001) AcroM fluorescent in
situ hybridization analyses of marker chromosomes.
Hum Genet 109: 152-158.
- Lian J, Yin Y, Oliver-Bonet
M, Liehr T, Ko E, Turek P, Sun F, Martin RH (2008)
Variation in crossover interference levels on
individual chromosomes from human males. Hum Mol
Genet 17:2583-2594.
- Liehr T, Nietzel A, Rocchi
M, Heller A, Starke H, Claussen U, v Eggeling F
(2002) Centromere-specific multicolor-FISH
(cenM-FISH) followed by analysis for uniparental
disomy - a useful tool in prenatal diagnosis. In:
Early prenatal diagnosis, fetal cells and DNA in the
mother - present state and perpectives. The
Karolinum Press, Prag, pp 293-300, ISBN:
80-246-0397-7.
- Liehr T, Nietzel A, Starke
H, Heller A, Weise A, Kuechler A, Senger G, Ebner S,
Martin T, Stumm M, Wegner R, Tönnies H, Hoppe C,
Claussen U, von Eggeling F (2003) Characterization
of small marker chromosomes (SMC) by recently
developed molecular cytogenetic approaches. J Ass
Genet Techn 29: 5-10.
- Liehr T, Mrasek K, Starke
H, Claussen U, Schreiber G (2005) Unusual small
supernumerary marker chromosome (sSMC) 9 in a
Klinefelter patient. Cytogenet Genome Res 111:
179-181.
- Liehr T, Brude E,
Gillessen-Kaesbach G, Konig R, Mrasek K, von
Eggeling F, Starke H (2005) Prader-Willi syndrome
with a karyotype 47,XY,+min(15)(pter->q11.1:) and
maternal UPD 15--case report plus review of similar
cases. Eur J Med Genet 48: 175-181.
- Liehr T, Klein E, Mrasek K,
Kosyakova N, Guilherme RS, Aust N, Venner C, Weise
A, Hamid AB (2013) Clinical impact of somatic
mosaicism in cases with small supernumerary marker
chromosomes. Cytogenet Genome Res 139: 158-163.
- Liehr T, Cirkovic S, Lalic
T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I,
Melaragno MI, Guilherme RS, Stefanou EG, Aktas D,
Kreskowski K, Klein E, Ziegler M, Kosyakova N,
Volleth M, Hamid AB (2013) Complex small
supernumerary marker chromosomes - an update. Mol
Cytogenet 6:46.
- Moskovszky L, Szuhai K,
Krenács T, Hogendoorn PC, Szendroi M, Benassi MS,
Kopper L, Füle T, Sápi Z (2009) Genomic instability
in giant cell tumor of bone. A study of 52 cases
using DNA ploidy, relocalization FISH, and array-CGH
analysis. Genes Chromosomes Cancer 48:468-479.
- Nietzel A, Rocchi M, Starke
H, Heller A, Fiedler W, Wlodarska I, Loncarevic I,
Beensen V, Claussen U, Liehr T (2001) A new
multicolor-FISH approach for the characterization of
marker chromosomes: Centromere-specific
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