0. Liehr et al. unpublished data
A
Heller, J Seidel, A Hübler, H Starke, V
Beensen, G Senger, M Rocchi, J Wirth, I
Chudoba, U Claussen, T
Liehr.
Molecular cytogenetic characterisation of
partial trisomy 9q in a case with pyloric
stenosis and a review.
J
Med Genet 2000, 37:529-532.
H Starke, G Senger,
M Kossakiewicz, H Tittelbach, D Rau, N Rubtsov,
V Trifonov, A Heller, I Hartmann, U Claussen, T
Liehr.
Maternal insertion of 18q11.2-q12.2 in 18p11.3 of
the same chromosome analysed by microdissection
and multicolour banding (MCB).
Prenat Diag 2001, 21:1049-1052.
T
Liehr, M Schmidt, H Starke, M Ziegler, G
Kittner, A Heller, N Rubtsov, V Trifonov, U
Claussen.
First case of trisomy 13 plus mosaic trisomy 1q.
Fetal Diag Ther 2002, 17:133-136.
T Liehr , U Claussen.
Review: Multicolor-FISH approaches for the
characterization of human chromosomes in clinical
genetics and tumor cytogenetics.
Current Genomics 2002, 3:213-235.
T
Liehr, U Claussen.
Current developments in human molecular cytogenetic
techniques.
Curr Mol Med 2002, 2:283-297.
T
Liehr, A Heller, H Starke, U Claussen.
FISH banding methods:
applications in research and diagnostics.
Expert Review Mol Diagn 2002, 2:217-225.
A
Weise, H Starke, A Heller, H Tönnies, M Volleth, M
Stumm, G Senger, A Nietzel, U Claussen, T Liehr.
Chromosome 2 aberrations in clinical cases
characterized by high resolution multicolor banding
(MCB) and region specific FISH probes.
J Med Genet 2002, 39:434-439.
R
Trappe, D Böhm, J Kohlhase, A Weise, T Liehr, G
Essers, M Meins, B Zoll, I Bartels, P Burfeind.
A novel family-specific translocation
t(2;20)(p24.1;q13.1) associated with recurrent
abortions: molecular characterization and
segregation analysis in male meiosis.
Cytogenet Genome Res 2002, 98:1-8.
V
Trifonov, J Seidel, H Starke, M Prechtel, V
Beensen, M Ziegler, I Hartmann, A Heller, A
Nietzel, U Claussen, T Liehr.
Enlarged chromosome 13 p-arm hiding a cryptic
partial trisomy 6p22.2-pter.
Prenat Diagn 2003, 23:427-430.
M Manvelyan, I
Schreyer, I Höls-Herpertz, S Köhler, R Niemann,
U Hehr, B Belitz, I Bartels, J Götz, D Huhle, M
Kossakiewicz, H Tittelbach, S Neubauer, A
Polityko, M-L Mazauric, R Wegner, M Stumm, P
Küpferling, F Süss, H Kunze, A Weise, T Liehr, K
Mrasek.
48 new cases with infertility due to balanced
chromosomal rearrangements – detailed
molecular cytogenetic analysis of the 90 involved
breakpoints.
Int J Mol Med 2007, 19:855-864.
T
Liehr, N Kosayakova, J Schröder, M Ziegler, K
Kreskowski, B Pohle, S Bhatt, L Theuss, K Wilhelm,
A Weise, K Mrasek.
Evidence for correlation of fragile sites and
chromosomal breakpoints in carriers of
constitutional balanced chromosomal rearrangements.
Balk J Med Genet 2011, 14:13-16.
T
Liehr, A Heller, KH Eichhorn, V Beensen, E
Schulze, H Starke, U Claussen, I Schreyer.
Inherited cryptic chromosomal aberrations may be
more easily detected in their balanced forms: a case
report with hidden der(1)t(1;17)(q44;p13.2).
Prenat Diagn 2004, 24:1022-1024.
J
Seidel J, A Heller, G Senger, H Starke, I Chudoba,
C Kelbova, H Tonnies, H Neitzel, C Haase, V
Beensen, F Zintl, U Claussen, T Liehr.
A multiple translocation event in a patient with
hexadactyly, facial dysmorphism, mental retardation
and behaviour disorder characterized comprehensively
by molecular cytogenetics. Case report and review of
the literature.
Eur J Pediatr 2003, 162:582-588.
S
Sauter, G von Beust, P Burfeind, A Weise, H
Starke, T Liehr , B Zoll.
Autistic disorder and chromosomal mosaicism
46,XY[123]/46,XY,del(20)(pter -> p12.2)[10].
Am J Med Genet 2003, 120A:533-536.
H
Starke, B Mitulla, V Beensen, V Trifonov, N
Rubtsov, A Heller, M Ziegler, A Neumann, U
Claussen, T Liehr.
First postnatal case of mosaic del(22)/r(22).
Prenat Diagn 2003, 23:765-767.
M
Volleth, M Stumm, VM Kalscheuer, K Reschke, T
Liehr, P Wieacker.
Prämature Ovarialinsuffizienz bei einer Patientin
mit einem ungewöhnlichen pseudoisodizentrischen
X-Chromosom.
Geburtshilfe Frauenheilkd 2003, 63:1054-1057.
W
Zumkeller, M Volleth, P Muschke, H Tönnies, A
Heller, T Liehr, P Wieacker, M Stumm.
Genotype/phenotype analysis in a patient with
pure and complete trisomy 12p.
Am J Med Genet A 2004, 129A:261-264.
A
Weise, O Rittinger, H Starke, M Ziegler, U
Claussen, T Liehr.
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 2003, 103:14-16.
U
Grasshoff, S Singer, T Liehr, H Starke, B
Fode, M Schoning, A Dufke.
A complex chromosomal rearrangement with a
translocation 4;10;14 in a fertile male
carrier: ascertainment through an offspring
with partial trisomy 14q24-->1q22 and
partial monosomy 4q27-->q28.
Cytogenet Genome Res 2003, 103:17-23.
I Schreyer, A
Neumann, V Beensen, K-H Eichhorn, A
Heller, U Claussen, T Liehr.
dup(13)(q14.2-q14.3) - yet another new
differential diagnostic aspect for short
stature like phenotype.
J Histochem Cytochem 2005, 53:365-366.
H
Starke, K Mrasek, T Liehr.
3 cases with enlarged acrocentric p-arms
– 2 cases with cryptic partial
trisomies.
J Histochem Cytochem 2005, 53:359-360.
M
Trimborn, T Liehr, B Belitz, L Pfeiffer, R Varon,
H Neitzel, H Tönnies.
Prenatal diagnosis and molecular cytogenetic
characterisation of a complex structural
rearrangement in a pregnancy following
intracytoplasmic sperm injection (ICSI).
J Histochem Cytochem 2005, 53:351-354.
A Kuechler, M
Ziegler, C Blank, B Rommel, J Bullerdiek, J
Ahrens, U Claussen, T Liehr.
A highly complex chromosomal rearrangement between
five chromosomes in a healthy female diagnosed in
preparation for ICSI.
J Histochem Cytochem 2005, 53:355-357.
A
Polityko, H Starke, N Rumyantseva, U Claussen,
T Liehr, S Raskin.
Three cases with rare interstitial
rearrangements of chromosome 1 characterized by
multicolor banding.
Cytogenet Genome Res 2005, 111:171-174.
P
Stankiewicz, A Kuechler, CD Eller, T Sahoo,
C Baldermann, U Lieser, M Hesse, C Gläser, M
Hagemann, SA Yatsenko, T Liehr, B
Horsthemke, U Claussen, Y Marahrens, JR
Lupski, I Hansmann.
Minimal phenotype in a girl with trisomy 15q
due to t(X;15)(q22.3;q11.2) translocation - do
LINE-1 elements facilitate spreading of X
inactivation?
Am J Med Gen 2006, 140A:442-452.
S
Balci, Ö Engiz, D Aktaş, I Vargel, MS
Beksaç, K Mrasek, T Liehr.
Ring chromosome 4 and Wolf-Hirschhorn
syndrome (WHS) in a child with multiple
malformations.
Am J Med Gen 2006, 140A:628-632.
E Papadopoulou, S
Sifakis, C Sarri, J Gyftodimou, T Liehr,
K Mrasek, M Kalmanti, MB Petersen.
A case report of pure 7p duplication
syndrome and review of the literature.
Am J Med Gen A 2006, 140A:2802-2806.
S
Balci, A Ünal, D Aktaş, Ö Engiz, T
Liehr, M Gross, K Mrasek, S Saygi.
Bilateral periventricular nodular
heterotopia (PNH), severe mental
retardation and epilepsy in a male
patient with
46,XY,der(19)t(X;19)(q11.1-11.2;p13.3)
due to maternal balanced translocation.
Develop Med Child Neurol 2007,
49:219-224.
L
Backx, H Van Esch, C Melotte, N
Kosyakova, H Starke, JP Frijns, T
Liehr, JR Vermeesch.
Array painting using microdissected
chromosomes to map chromosomal
breakpoints.
Cytogenet Genome Res 2007,
116:158-166.
I
Bartels, H Starke, L Argyriou, SM
Sauter, B Zoll, T Liehr.
An exceptional complex chromosomal
rearrangement (CCR) with 8
breakpoints involving four
chromosomes (1;3;9;14) in an
azoospermic male with normal
phenotype.
Europ J Med Gen 2007, 50:133-138.
SM
Sauter, D Böhm, I Bartels, P
Burfeind, FA Laccone, J Neesen,
B Wilken, T Liehr, B Zoll.
Partial trisomy of distal 19q
detected by quantitative real-time
PCR and FISH in a girl with mild
facial dysmorphism, hypotonia and
developmental delay.
Am J Med Genet A 2007,
143A:1091-1099.
GE
Utine, D Aktas, Y Alanay, S
Gücer, E Tuncbilek, K Mrasek,
T Liehr .
Distal partial trisomy 1q:
report of two cases and a review
of the literature.
Prenat Diagn 2007, 27:865-871.
S
Bhatt, K Moradkhani, K
Mrasek, J Puechberty, G
Lefort, J Lespinasse, P
Sarda, T Liehr, S Hamamah, F
Pellestor.
Breakpoint characterization: a
new approach for segregation
analysis of paracentric
inversion in human sperm.
Mol Hum Reprod 2007,
13:751-756.
I
Carreira, A Mascarenhas, E
Matoso, A Couceiro, L
Ramos, A Dufke, M
Mazauric, R Stressig, N
Kosyakova, J Melo, T
Liehr.
Three unusual but
cytogenetically similar
cases with up to five
different cell lines
involving structural and
numerical abnormalities of
chromosome 18.
J Histochem Cytochem 2007,
55:1123-1128.
A
Koç, D Kan, K Karaer, MA
Ergün, K Gücüyener, S
Hinreiner, T Liehr, EF
Perçin.
An unexpected finding in a
child with neurological
problems: Mosaic ring
chromosome 18.
Europ J Pediatrics 2008,
167:655–659.
T
Pramparo, M de
Gregori, S Gimelli, R
Ciccone, D Frondizi, T
Liehr, S Pellacani, G
Masi, P Brovedani, O
Zuffardi, R Guerrini.
A 7 Mb duplication at
22q13 in a girl with
bipolar disorder and
hippocampal
malformation.
Am J Med Genet A. 2008,
146A:1754-1760.
SG Vorsanova, IY
Iourov, VY
Voinova-Ulas, A
Weise, VV Monakhov,
AD Kolotii, IV
Soloviev, PV
Novikov, T Liehr, YB
Yurov.
Partial monosomy
7q34-qter and
21pter-q22.13 due to
cryptic unbalanced
translocation t(7;21)
but not monosomy of
the whole chromosome
21: a case report plus
review of the
literature.
Mol Cytogenet 2008,
1:13.
E Manolakos, N
Kosyakova, L
Thomaidis, R
Neroutsou, A
Weise, M
Mihalatos, S Orru,
H Kokotas, G
Kitsos, T Liehr,
MB Petersen.
Complex chromosome
rearrangement in a
child with
microcephaly,
dysmorphic facial
features and
mosaicism for a
terminal deletion
del(18)(q21.32-qter)
investigated by FISH
and array-CGH: Case
report.
Mol Cytogenet 2008,
1:24.
S Bhatt, K
Moradkhani, K
Mrasek, J
Puechberty, M
Manvelyan, F
Hunstig, G
Lefort, A Weise,
J Lespinasse, P
Sarda, T Liehr,
S Hamamah, F
Pellestor.
Breakpoint mapping
and complete
analysis of
meiotic
segregation
patterns in three
men heterozygous
for paracentric
inversions.
Eur J Hum Genet
2009, 17:44–50.
A
Tzschach, C Ramel, A Kron, B Seipel, C Wüster, U
Cordes, T Liehr, M Hoeltzenbein, C Menzel, HH
Ropers, R Ullmann, V Kalscheuer, J Decker, D
Steinberger.
Hypergonadotropic hypogonadism in a patient with inv
ins (2;4).
Int J Androl 2009; 32:226-230.
D
Aktas, A Weise, E Utine, D Alehan, K Mrasek, F von
Eggeling, H Thieme, E Tuncbilek, T Liehr.
Clinically abnormal case with paternally derived
partial trisomy 8p23.3 to 8p12 including maternal
isodisomy of 8p23.3: a case report.
Mol Cytogenet 2009; 2:14.
E Ergul, T Liehr, K
Mrasek, A Sazci.
A de novo complex chromosome rearrangement
involving three chromosomes (2, 13, and 18) in an
oligospermic male.
Fertil Steril 2009; 92:391.e9-391.e1.
AD
Polityko, OM Khurs, AI Kulpanovich, KA Mosse, AV
Solntsava, NV Rumyantseva, IV Naumchik, T Liehr, A
Weise, H Mkrtchyan. P
Maternally derived der(7)t(Y;7)(p11.1~11.2;p22.3)dn
in a mosaic case with Turner syndrome.
Europ J Med Gen 2009; 52:207–210.
E
Manolakis, A Vetro, S Kitmirides, I Papoulidis, N
Kosyakova, K Mrasek, A Weise, E Agapitos, S Orru,
P Peitsidis, T Liehr, MB Petersen.
Prenatal diagnosis, of a fetus with ring chromosome
15 characterized by array-CGH.
Prenat Diag 2009; 29:884-888.
Y
Soysal, S Balci, K Hekimler, T Liehr, E Ewers, J
Schoumans, TH Bui, FM Içduygu, N Kosyakova, N
Imirzalıoğlu.
Characterization of double ring chromosome 4
mosaicism associated with bilateral hip dislocation,
cortical dysgenesis, and epilepsy.
Am J Med Gen A 2009;149A:2782-2788.
P
Burégio-Frota, L Valença, GF Leal, AR Duarte, AV
Bispo-Brito, EM Soares-Ventura, TJ Marques-Salles,
MT Nogueira, MT Muniz, ML Silva, F Hunstig, T
Liehr, N Santos.
Identification of a de novo inv dup(X)(pter->q22)
by multicolor banding in a girl with Turner
syndrome.
Genet Mol Res 2010, 9:780-784.
B
Auber, P Burfeind, C Thiels, EA Alsat, M Shoukier,
T Liehr, H Nelle, I Bartels, G Salinas-Riester, F
Laccone.
An unbalanced translocation resulting in a
duplication of Xq28 causes a Rett syndrome-like
phenotype in a female patient.
Clin Genet 2010, 77:593-597.
D
Aktas, EG Utine, K Mrasek, A Weise, F von
Eggeling, K Yalaz, N Posorski, N Akarsu, M
Alikasifoglu, T Liehr, E Tuncbilek.
Derivative chromosome 1 and GLUT1 deficiency
syndrome in a sibling pair.
Mol Cytogenet 2010, 3:10.
I
Papoulidis, E Manolakos, E Siomou, K Kefalas, L
Thomaidis, T Liehr, A Vetro, A Athanasiadis, O
Zuffardi, MB Petersen.
A fetus with ring chromosome 21 characterized by
aCGH shows no clinical findings after birth.
Prenat Diag 2010, 30:586-588.
SI
Ferreira, E Matoso, M Pinto, J Almeida, T Liehr,
JB Melo, IM Carreira.
X-chromosome terminal deletion in a female with
premature ovarian failure: Haploinsufficiency of
X-linked genes as a possible explanation.
Mol Cytogenet 2010, 3:14.
S
Balci, B Yuksel Konuk, F Atik, AK Oguz, MA Ergun,
V Baltaci, N Kosyakova, T Liehr.
Partial deletion of the long arm of chromosome 13
(q32q33.2) associated with mental retardation,
choanal atresia and fish mouth.
Genet Couns 2010, 21:317-324.
K
Gersak, K Writzl, A Veble, T Liehr.
Primary amenorrhoea in a patient with mosaicism for
monosomy X and a derivative X-chromosome.
Genet Couns 2010, 21:335-342.
W
Al Achkar, A Wafa, F Moassass, T Liehr.
Partial trisomy 9p22 to 9p24.2 in combination with
partial monosomy 9pter in a Syrian girl.
Mol Cytogenet 2010, 3:18.
K
Karaer, MA Ergun, A Weise, E Ewers, T Liehr, N
Kosyakova, H Mkrtchyan.
The case of an infertile male with an uncommon
reciprocal X-autosomal translocation: how does this
affect male fertility?
Genet Couns 2010, 21:397-404.
F Pellestor, J
Puechberty, A Weise, G Lefort, T Anahory, T
Liehr, P Sarda.
Meiotic segregation of complex reciprocal
translocations: direct analysis of the spermatozoa
of a t(5;13;14) carrier.
Fertil Steril 2011, 95:2433.e17-2433.e22.
E
Manolakos, S Sifakis, S Sotiriou, P Peitsidis, M
Eleftheriades, V Mersinias, T Liehr, L Thomaidis,
G Kitsos, I Papoulidis, MB Petersen, S Orru S.
Prenatal detection of an inverted duplication
deletion in the long arm of chromosome 1 in a fetus
with increased nuchal translucency. Molecular
cytogenetic analysis and review of the literature.
Clin Dysmorphol 2012, 21:101-105.
AB Hamid, K
Kreskowski, A Weise, N Kosayakova, K Mrasek, M
Voigt, RS Guilherme, R Wagner, D Hardekopf, S
Pekova, T Karamysheva, T Liehr, E Klein.
How to narrow down chromosomal breakpoints in
small and large derivative chromosomes – a new
probe set.
J Appl Genet 2012, 53: 259-269.
F
Sheth, N Gohel, T Liehr, O Akinde, M Desai, O
Adeteye, J Sheth.
Gain of chromosome 4qter and loss of 5pter – an
unusual case with features of Cri du chat
syndrome (CdCS).
Case Reports Genet 2012, 153405.
T
Schmidt, I Bartels, T Liehr, P Burfeind, B Zoll, M
Shoukiera.
A family with an inverted tandem duplication
5q22.1q23.2.
Cytogenet Genome Res 2013,139: 65-70.
B
Cavdarli, G Ozgen, AO Kaymak, B Göker, T Liehr, MA
Ergun, EF Percin.
A case with double translocation and Sjögren
syndrome.
Turkiye J Med Sci 2013, 33: 233-236.
E Manolakos, A
Vetro, E Papadopoulou, K Kefalas, M Lagou, L
Thomaidis, P Peitsidis, S Sifakis, A Divane, M
Ziegler, T Liehr, O Zuffardi, I Papoulidis.
Partial trisomy 2p and partial monosomy 2q arising
from a paternal intrachromosomal 2q-into-2p
between-arm insertion and paracentric inversion:
molecular cytogenetic characterization of a four
break rearrangement.
Cytogenet Genome Res 2013, 140: 12-20.
A
Vičić, D Zudenigo, P Korać, T Liehr, F
Stipoljev.
Prenatally detected interstitial deletion
13q12.3-q22 in a fetus with a cystic hygroma.
Gene 2013, 531: 90-91.
RS
Guilherme, MC Cernach, TE Sfakianakis, SS Takeno,
LM Nardozza, C Rossi, SS Bhatt, T Liehr, MI
Melaragno.
A complex chromosome rearrangement involving four
chromosomes, nine breakpoints and a cryptic 0.6-Mb
deletion in a boy with cerebellar hypoplasia and
defects in skull ossification.
Cytogenet Genome Res 2013, 141: 317-323.
T
Schmidt, T Bierhals, F Kortüm, I Bartels, T Liehr,
P Burfeind, M Shoukier, V Frank, C Bergmann, K
Kutsche.
Branchio-Otic syndrome caused by a genomic
rearrangement: clinical findings and molecular
cytogenetic studies in a patient with a pericentric
inversion of chromosome 8.
Cytogenet Genome Res 2014; 142: 1-6.
L
Rodríguez, SS Bhatt, M García-Castro, A Plasencia,
J Fernández-Toral, E Abarca, M de Bello Cioffi, T
Liehr.
A unique case of a discontinuous duplication
3q26.1-3q28 resulting from a segregation error of a
maternal complex chromosomal rearrangement involving
an insertion and an inversion.
Gene 2014, 535: 165-169.
I
Pappoulidis, E Papageorgiou, E Siomou, E
Oikonomidou, L Thomaidou, A Vetro, O Zuffardi, T
Liehr, E Manolakos.
A patient with partial trisomy 21 and 7p deletion
expresses mild Down syndrome phenotype.
Gene 2014, 536: 441-443.
S
Sifakis, M Eleftheriades, D Kappou, R Murru, A
Konstantinidou, S Orru, M Ziegler, T Liehr, E
Manolakos, I Papoulidis.
Prenatal diagnosis of proximal partial trisomy 1q
confirmed by comparative genomic hybridization
array: molecular cytogenetic analysis, fetal
pathology and review of the literature.
Birth Defects Research Part A: Clinical and
Molecular Teratology 2014, 100: 284-293.
AM Vlaikou, E
Manolakos, D Noutsopoulos, G Markopoulos, T
Liehr, A Vetro, M Ziegler, A Weise, K
Kreskowski, I Papoulidis, L Thomaidis, M Syrrou.
An interstitial 4q31.21q31.22 microdeletion
associated with developmental delay: Case report
and literature review.
Cytogenet Genome Res 2014, 142: 227-238.
M
Kehrer, T Liehr, T Benkert, S Singer, U
Grasshoff, K Schaeferhoff, M Bonin, A
Weichselbaum.
Interstitial duplication of chromosome region
1q25.1q25.3: Report of a patient with mild
cognitive deficits, tall stature and facial
dysmorphisms.
Am J Med Genet 2015, 167: 653-656.
W
Al-Achkar, F Moassass, A Al-Ablog, T Liehr,
X Fan, A Wafa.
A Syrian couple with chromosomal aberration
and MTHFR polymorphism leads to recurrent
pregnancy loss and partial trisomy of
5p12-15.3 in the offspring: Case report and
review to the literature.
Zhonghua Nan Ke Xue = Nat J Androl 2015, 21:
219-224.
M
Moysés-Oliveira, RD Guilherme, AG Dantas, R Ueta,
AB Perez, M Haidar, R Canonaco, VA Meloni, N
Kosyakova, T Liehr, GM Carvalheira, MI Melaragno.
Genetic mechanisms leading to primary amenorrhea in
balanced X-autosome translocations.
Fertil Steril 2015, 103: 1289-1296.e2.
S
Ledig, S Preisler-Adams, S Morlot, T Liehr, P
Wieacker.
Premature ovarian failure caused by a heterozygous
missense mutation in POF1B and a reciprocal
translocation 46,X,t(X;3)(q21.1;q21.3).
Sex Dev 2015, 9: 86-90.
M
Moysés-Oliveira, RS Guilherme, VA Meloni, A Di
Battista, CB de Mello, S Bragagnolo, D
Moretti-Ferreira, N Kosyakova, T Liehr, GM
Carvalheira, MI Melaragno MI.
X-linked intellectual disability related genes
disrupted by balanced X-autosome translocations.
Am J Med Genet B Neuropsychiatr Genet 2015, 168:
669-677.
M
Kontodiou, G Daskalakis, A Vetro, V Paspaliaris, G
Papaioannou, T Dagklis, I Tsakiridis, M Ziegler, T
Liehr, L Thomaidis, I Papoulidis, E Manolakos.
Complex rearrangement involving three chromosomes,
four breakpoints and a 2.7 Mb deletion on 18q
segment observed in a girl with mild learning
difficulties.
Cytogenet Genome Res 2015, 147: 118-123.
S
Amasdl, A Natiq, A Sbiti, M Zerkaoui, J Lyahyai, T
Liehr, S Amzazi, A Sefiani.
20p12.3 deletion is rare cause of syndromic cleft
palate: case report and review of literature.
BMC Research Notes 2016, 9:5.
EG
Coci, U Koehler, T Liehr, A Stelzner, C Fink, H
Langen, J Riedel.
CANPMR syndrome and chromosome 1p32-p31 deletion
syndrome coexist in two related individuals affected
by simultaneous haplo-insufficiency of CAMTA1 and
NIFA genes.
Mol Cytogenet 2016, 9:10.
S Amasdl, A Natiq,
SC Elalaoui, A Sbiti, T Liehr, A Sefiani.
Insulin-like growth factor type 1 deficiency in a
Moroccan patient with de novo inverted duplication
9p24p12 and developmental delay: a case report.
J Med Case Rep 2016, 10: 122.
B
Wannenmacher, D Mitter, F Kießling, T Liehr, A
Weise, M Siekmeyer, W Kiess.
A 33-year-old male patient with paternal derived
duplication of 14q11.2-14q22.1~22.3: clinical
course, phenotypic and genotypic findings.
J Pediatr Endocrinol Metab 2016, 29: 611-616.
AC
Malinverni, ME Colovati, AB Perez, TP
Caneloi, HR Oliveira Jr, N Kosyakova, T
Liehr, AB Hamid, MI Melaragno.
Unusual duplication in the pericentric region
of chromosome 9 in a patient with phenotypic
alterations.
Cytogenet Genome Res 2016, 150: 100-105.
EG
Coci, A Auhuber, A Langenbach, K Mrasek, J Riedel,
A Leenen, T Lücke, T Liehr.
Novel unbalanced translocations affecting the long
arms of chromosome 10 and 22 causes complex
syndromes with very severe neuro-developmental
delay, speech impairment, autistic behavior and
epilepsy.
Cytogenet Genome Res 2017, 151: 171-178.
LA
Mendez-Rosado, A Lantigua, J Galarza, ABH
Al-Rikabi, M Ziegler, T Liehr.
Unusual de novo partial trisomy 17p12p11.2 due to
unbalanced insertion into 5p13.1 in a severely
affected boy.
J Pediatr Genet 2017, 6: 165-168.
H
Sheth, S Tewari, K Shah, T Liehr, J Trivedi, M
Pandya, JJ Sheth, F Sheth.
Prenatal detection of cryptic genomic rearrangement:
role of detailed family history, pedigree analysis
and advanced genomic technologies.
Int J Preg Child Birth 2017, 3: 00071.
I
Papoulidis, A Vetro, V Paspaliaris, M Ziegler, K
Kreskowski, G Daskalakis, V Papadopoulos, T
Dagklis, T Liehr, L Thomaidis, E Manolakos.
A girl with 10 Mb distal Xp deletion arising from
maternal pericentric inversion: Clinical data and
molecular characterization.
Curr Genomics 2018, 19: 240-246.
PK Priya, VV Mishra
, T Liehr, M Ziegler, S Tiwari, A Patel, SS
Chettiar, H Patel.
Characterization of a complex chromosomal
rearrangement involving chromosomes 1, 3 and 4 in
a slightly affected male partner with unsuccessful
obstetric history.
J Assist Reprod Genet 2018, 35: 721-725.
F
Sheth, T Liehr, V Shah, H Sheth, S Tewari, D
Solanki, S Trivedi, J Sheth.
A child with intellectual disability and dysmorphism
due to complex ring chromosome 6: Identification of
molecular mechanism with review of literature.
Ital J Pediatr 2018, 44: 114.
M
Moysés-Oliveira, A Di-Battista, M Zamariolli, VA
Meloni, S Bragagnolo, DM Christofolini, CE
Steiner, N Kosyakova, T Liehr, A Reymond, MI
Melaragno.
Breakpoint mapping at nucleotide resolution in
X-autosome balanced translocations associated with
clinical phenotypes.
Eur J Hum Genet 2019, 27: 760-771.
T
Liehr, A Weise, K Mrasek, M Ziegler, N Padutsch, K
Wilhelm, A Al-Rikabi.
Recombinant chromosomes resulting from parental
pericentric inversions - Two new cases and a review
of the literature.
Front Genet
2019, 10:1165.
LA
Mendez Rosado, D García, O Molina, A García, N
de León, A Lantigua-Cruz, T
Liehr .
Diagnostico citogenetico
molecular en pacientes con trastornos del
neurodesarrollo.
Arch Argentin Pediat 2020, 118:52-55.
RA Pilz,
K Schwefel, A Weise, T Liehr, P Demmer,
A Spuler, S Spiegler, E Gilberg, CA
Hübner, U Felbor, M Rath.
First interchromosomal
insertion in a patient with cerebral and
spinal cavernous malformations.
Sci Rep 2020, 10:6306.
C Sismani, S-M Rapti, P
Iliopoulou, A Spring, R Neroutsou, M
Lagou, M Robola, E Tsitsopoulos, L
Kousoulidou, A Alexandrou, I
Papaevripidou, A Theodosiou, M Syrrou, S
Fuchs, M Hempel, D Huhle, T Liehr, M
Ziegler, M Duesberg, V Velissariou.
Novel pericentric inversion
inv(9)(p23q22.3) in unrelated
individualswith fertility problems in the
Southeast European population.
J Hum Genet 2020, 65:783-795.
VI Romero, JC
Pozo, S Saenz, A Llamos-Paneque, T Liehr, K
Hosomichi, A Tajima.
A toddler with phylloid-type pigmentary mosaicism
and ambiguous genitalia resulting from trisomy 14
induced by a der(Y)t(Y;14).
Hum Genome Var 2020, 7:28.
I
Joksic, T Liehr, M Toljic, N Karadzov-Orlic, Z
Milovanovic, Z Mikovic, A Egic.
Prenatal ultrasonographic manifestations of
partial trisomy 12q (12q24.2→qter) and partial
monosomy 2q (2q37.3→2qter).
Vojnosanit Pregl 2020, 77:754-757.
M
Rincic, M Rados, J Kopic, Z Krsnik, T Liehr.
7p21.3 together with a 12p13.32 deletion in a
patient with microcephaly - does 12p13.32 locus
possible comprises a candidate gene region for
microcephaly?
Front Mol Neuroscience 2021; 14: 613091.
S
Tsan, S Kankel, N Padutsch, L Person, M Ziegler,
A Al-Rikabi, A Weise, K Mrasek, T Liehr.
About cryptic acrocentric pericentromeric
abnormalities in infertile.
OBM Genetics 2021, 5:11.
I
Fickelscher, T Liehr, K Watts, V Bryant, JCK
Barber, R Siebert, S Heidemann, JM Hertz, Z Tümer,
NS Thomas.
The variant inv(2)(p11.2q13) is a genuinely
recurrent rearrangement but displays some breakpoint
heterogeneity.
Am J Hum Gen 2007, 81:847-856.
RS
Guilherme, E Klein, AB Hamid, S Bhatt, M Volleth,
A Polityko, A Kulpanovich, A Dufke, B Albrecht, S
Morlot, L Brecevic, MB Petersen, E Manolakos, N
Kosyakova, T Liehr.
Human ring chromosomes – new insights for their
clinical significance.
Balk J Med Genet 2013, 16: 13-19.
RS
Guilherme, E Klein, C Venner, AB Hamid, S Bhatt,
MI Melaragno, M Volleth, A Polityko, A
Kulpanovich, N Kosyakova, T Liehr.
Human ring chromosomes and small supernumerary
marker chromosomes – do they have telomeres?
Chromosome Res 2012; 20: 825-835