Liehr T - Search Results

1

Narrowing the deleted region associated with the 15q21 syndrome.

Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O. Pramparo T, et al. Among authors: liehr t. Eur J Med Genet. 2005 Jul-Sep;48(3):346-52. doi: 10.1016/j.ejmg.2005.04.012. Eur J Med Genet. 2005. PMID: 16179230

2

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.

Liehr T, Brude E, Gillessen-Kaesbach G, König R, Mrasek K, von Eggeling F, Starke H. Liehr T, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):175-81. doi: 10.1016/j.ejmg.2005.01.004. Epub 2005 Feb 17. Eur J Med Genet. 2005. PMID: 16053909 Review.

3

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns JP, Liehr T. Vermeesch JR, et al. Among authors: liehr t. Eur J Med Genet. 2005 Jul-Sep;48(3):319-27. doi: 10.1016/j.ejmg.2005.04.018. Eur J Med Genet. 2005. PMID: 16179227

4

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

Pramparo T, de Gregori M, Gimelli S, Ciccone R, Frondizi D, Liehr T, Pellacani S, Masi G, Brovedani P, Zuffardi O, Guerrini R. Pramparo T, et al. Among authors: liehr t. Am J Med Genet A. 2008 Jul 1;146A(13):1754-60. doi: 10.1002/ajmg.a.32326. Am J Med Genet A. 2008. PMID: 18546282

5

Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.

Polityko AD, Khurs OM, Kulpanovich AI, Mosse KA, Solntsava AV, Rumyantseva NV, Naumchik IV, Liehr T, Weise A, Mkrtchyan H. Polityko AD, et al. Among authors: liehr t. Eur J Med Genet. 2009 Jul-Aug;52(4):207-10. doi: 10.1016/j.ejmg.2009.03.016. Epub 2009 Apr 16. Eur J Med Genet. 2009. PMID: 19375526

6

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.

Papoulidis I, Manolakos E, Siomou E, Kefalas K, Thomaidis L, Liehr T, Vetro A, Athanasiadis A, Zuffardi O, Petersen MB. Papoulidis I, et al. Among authors: liehr t. Prenat Diagn. 2010 Jun;30(6):586-8. doi: 10.1002/pd.2524. Prenat Diagn. 2010. PMID: 20509162 No abstract available.

7

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.

Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB. Manolakos E, et al. Among authors: liehr t. Am J Med Genet A. 2011 Jun;155A(6):1476-82. doi: 10.1002/ajmg.a.33981. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567918 No abstract available.

8

Unexpected results in the constitution of small supernumerary marker chromosomes.

Vetro A, Manolakos E, Petersen MB, Thomaidis L, Liehr T, Croci G, Franchi F, Marinelli M, Meneghelli E, Dal Bello B, Cesari S, Iasci A, Arrigo G, Zuffardi O. Vetro A, et al. Among authors: liehr t. Eur J Med Genet. 2012 Mar;55(3):185-90. doi: 10.1016/j.ejmg.2012.01.010. Epub 2012 Jan 28. Eur J Med Genet. 2012. PMID: 22342433 Free article.

9

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.

Manolakos E, Vetro A, Papadopoulou E, Kefalas K, Lagou M, Thomaidis L, Peitsidis P, Sifakis S, Divane A, Ziegler M, Liehr T, Zuffardi O, Papoulidis I. Manolakos E, et al. Among authors: liehr t. Cytogenet Genome Res. 2013;140(1):12-20. doi: 10.1159/000350868. Epub 2013 May 4. Cytogenet Genome Res. 2013. PMID: 23652918

10

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

Papoulidis I, Papageorgiou E, Siomou E, Oikonomidou E, Thomaidis L, Vetro A, Zuffardi O, Liehr T, Manolakos E, Vassilis P. Papoulidis I, et al. Among authors: liehr t. Gene. 2014 Feb 25;536(2):441-3. doi: 10.1016/j.gene.2013.11.078. Epub 2013 Dec 13. Gene. 2014. PMID: 24334122

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