Singer S - Search Results

1

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Höckner M, Spreiz A, Frühmesser A, Tzschach A, Dufke A, Rittinger O, Kalscheuer V, Singer S, Erdel M, Fauth C, Grossmann V, Utermann G, Zschocke J, Kotzot D. Höckner M, et al. Among authors: singer s. Cytogenet Genome Res. 2012;136(4):242-5. doi: 10.1159/000337923. Epub 2012 Apr 18. Cytogenet Genome Res. 2012. PMID: 22516930

2

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].

Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke A. Grasshoff U, et al. Among authors: singer s. Cytogenet Genome Res. 2003;103(1-2):17-23. doi: 10.1159/000076282. Cytogenet Genome Res. 2003. PMID: 15004458

3

De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies.

Dufke A, Singer S, Borell-Kost S, Stotter M, Pflumm DA, Mau-Holzmann UA, Starke H, Mrasek K, Enders H. Dufke A, et al. Among authors: singer s. Cytogenet Genome Res. 2006;114(3-4):342-50. doi: 10.1159/000094224. Cytogenet Genome Res. 2006. PMID: 16954677

4

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.

McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. McMullan DJ, et al. Among authors: singer s. Hum Mutat. 2009 Jul;30(7):1082-92. doi: 10.1002/humu.21015. Hum Mutat. 2009. PMID: 19388127

5

Mosaic trisomy 21/monosomy 21 in a living female infant.

Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A. Nguyen HP, et al. Among authors: singer s. Cytogenet Genome Res. 2009;125(1):26-32. doi: 10.1159/000218745. Epub 2009 Jul 14. Cytogenet Genome Res. 2009. PMID: 19617693

6

De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature.

Farra C, Singer S, Dufke A, Ashkar H, Monsef C, Awwad J. Farra C, et al. Among authors: singer s. Fertil Steril. 2011 Nov;96(5):1160-4. doi: 10.1016/j.fertnstert.2011.07.1114. Fertil Steril. 2011. PMID: 21851937 Free article. Review.

7

12q24.33 deletion: report of a patient with intellectual disability and review of the literature.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A. Kehrer M, et al. Among authors: singer s. Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613162 Review.

8

Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.

Kehrer M, Liehr T, Benkert T, Singer S, Grasshoff U, Schaeferhoff K, Bonin M, Weichselbaum A, Tzschach A. Kehrer M, et al. Among authors: singer s. Am J Med Genet A. 2015 Mar;167A(3):653-6. doi: 10.1002/ajmg.a.36943. Am J Med Genet A. 2015. PMID: 25691419

9

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.

Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M. Habhab W, et al. Among authors: singer s. Am J Med Genet A. 2020 Nov;182(11):2680-2684. doi: 10.1002/ajmg.a.61804. Epub 2020 Aug 16. Am J Med Genet A. 2020. PMID: 32803851 Review.

10

New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.

Singer S, Gazou A, Sturm M, Demidov G, Mazzola P, Riess O, Ossowski S, Dufke A. Singer S, et al. Am J Med Genet A. 2021 Oct;185(10):3053-3056. doi: 10.1002/ajmg.a.62357. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34042264

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