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Items: 1 to 50 of 150

1.

High-Content Microscopy Analysis of Subcellular Structures: Assay Development and Application to Focal Adhesion Quantification.

Kroll T, Schmidt D, Schwanitz G, Ahmad M, Hamann J, Schlosser C, Lin YC, Böhm KJ, Tuckermann J, Ploubidou A.

Curr Protoc Cytom. 2016 Jul 1;77:12.43.1-12.43.44. doi: 10.1002/cpcy.7.

PMID:
27367288
2.

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.

Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M.

Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19.

PMID:
24357605
3.

Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.

Roos A, von Kaisenberg CS, Eggermann T, Schwanitz G, Löffler C, Weise A, Mrasek K, Junge A, Caliebe A, Belitz B, Kautza M, Schüler H, Zerres K, Heidemann S.

Arch Gynecol Obstet. 2013 Nov;288(5):1153-8. doi: 10.1007/s00404-013-2861-5. Epub 2013 May 16.

PMID:
23677416
4.

Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints.

Eggermann T, Spengler S, Gamerdinger U, Denecke B, Grimm S, Grimm M, Schubert R, Schwanitz G.

J Pediatr Genet. 2012 Jun;1(2):143-7. doi: 10.3233/PGE-2012-023.

5.

A phenotype map for 14q32.3 terminal deletions.

Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H.

Am J Med Genet A. 2012 Apr;158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24.

PMID:
22367666
6.

Mosaic tetrasomy 14pterq13.1: longitudinal study.

Schwanitz G, Korsch E, Kremens-Korsch U, Ahlbory K, Gamerdinger U, Heidrich-Kaul C, Schubert R, Spengler S, Eggermann T.

Eur J Med Genet. 2011 Jul-Aug;54(4):e465-7. doi: 10.1016/j.ejmg.2011.03.003. Epub 2011 Mar 21. No abstract available.

PMID:
21420515
7.

Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees.

Engels H, Eggermann T, Caliebe A, Jelska A, Schubert R, Schüler HM, Panasiuk B, Zaremba J, Latos-Bieleńska A, Jakubowski L, Zerres KP, Schwanitz G, Midro AT.

Am J Med Genet A. 2008 Oct 15;146A(20):2611-6. doi: 10.1002/ajmg.a.32500.

PMID:
18798317
8.

Dynamics of component exchange at PML nuclear bodies.

Weidtkamp-Peters S, Lenser T, Negorev D, Gerstner N, Hofmann TG, Schwanitz G, Hoischen C, Maul G, Dittrich P, Hemmerich P.

J Cell Sci. 2008 Aug 15;121(Pt 16):2731-43. doi: 10.1242/jcs.031922. Epub 2008 Jul 29.

9.

Abnormalities in tooth morphology, structure and dentition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21.

Roos A, Eggermann T, Zschiesche S, Midro A, Schwanitz G.

Adv Med Sci. 2008;53(1):17-20. doi: 10.2478/v10039-008-0012-1.

PMID:
18614442
10.

Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.

Gamerdinger U, Eggermann T, Schubert R, Schwanitz G, Kreiss-Nachtsheim M.

Am J Med Genet A. 2008 May 1;146A(9):1180-4. doi: 10.1002/ajmg.a.32122.

PMID:
18386807
11.

Sperm analyses, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15.

Paetzold U, Schwanitz G, Schubert R, van der Ven K, Montag M.

Adv Med Sci. 2006;51:31-5.

PMID:
17357273
12.

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.

Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. Epub 2006 Aug 4.

PMID:
16905374
13.

Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.

Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schröder R, Weber RG, Kornblum C.

Acta Neurol Scand. 2006 Aug;114(2):133-8.

PMID:
16867037
14.

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H.

Eur J Med Genet. 2006 May-Jun;49(3):225-34. Epub 2005 Aug 19.

PMID:
16762824
15.

Chromosomal aberrations in 130 patients with multiple myeloma studied by interphase FISH: diagnostic and prognostic relevance.

Schmidt-Wolf IG, Glasmacher A, Hahn-Ast C, Jüttner A, Schnurr T, Cremer F, Moehler T, Goldschmidt H, Busert B, Schubert R, Schwanitz G.

Cancer Genet Cytogenet. 2006 May;167(1):20-5.

PMID:
16682281
16.
17.

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).

Zahn S, Ehrbrecht A, Bosse K, Kalscheuer V, Propping P, Schwanitz G, Albrecht B, Engels H.

Am J Med Genet A. 2005 Nov 15;139(1):19-24.

PMID:
16222663
18.

Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.

Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E, Heil I, Schüler H, Korsch E, Schwanitz G.

Am J Med Genet A. 2005 Apr 30;134(3):305-8. Review.

PMID:
15723300
19.

New trends in chromosomal investigation in children with cardiovascular malformations.

Schellberg R, Schwanitz G, Grävinghoff L, Kallenberg R, Trost D, Raff R, Wiebe W.

Cardiol Young. 2004 Dec;14(6):622-9.

PMID:
15679998
20.

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16.

Stasiewicz-Jarocka B, Haus O, Van Assche E, Kostyk E, Constantinou M, Rybałko A, Krzykwa B, Marcinkowska A, Barisic I, Kucinskas V, Katuzewski B, Schwanitz G, Midro AT.

Clin Genet. 2004 Sep;66(3):189-207.

PMID:
15324317
21.

Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions.

Bosse K, Eggermann T, Van der Ven K, Raff R, Engels H, Schwanitz G.

Ann Genet. 2004 Apr-Jun;47(2):191-7.

PMID:
15183753
22.

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.

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.

Eur J Hum Genet. 2003 Sep;11(9):643-51.

23.

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

Eggermann K, Mau UA, Bujdosó G, Koltai E, Engels H, Schubert R, Eggermann T, Raff R, Schwanitz G.

Clin Genet. 2002 Jul;62(1):89-93.

PMID:
12123494
24.

Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature.

Schubert R, Eggermann T, Hofstaetter C, von Netzer B, Knöpfle G, Schwanitz G.

Am J Med Genet. 2002 Jul 1;110(3):278-82. Review.

PMID:
12116238
25.

Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype.

Kempe A, Engels H, Schubert R, Meindl A, van der Ven K, Plath H, Rhiem K, Schwanitz G, Schmutzler RK.

Gynecol Endocrinol. 2002 Apr;16(2):107-11.

PMID:
12012620
26.

[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].

Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T.

Orv Hetil. 2001 Jul 22;142(29):1561-4. Hungarian.

PMID:
11494748
27.

[Bardet-Biedl syndrome: aspects of nephro-urology and human genetics].

Brühl P, Schwanitz G, Mallmann R, Müller SC, Raff R.

Klin Padiatr. 2001 Jan-Feb;213(1):8-12. German.

PMID:
11225476
28.

Cytogenetic and andrological status and ICSI-results in couples with severe male factor infertility.

Haidl G, Peschka B, Schwanitz G, Montag M, van der Ven K, van der Ven H.

Asian J Androl. 2000 Dec;2(4):293-6.

29.

Gerhard koch 1913-1999

Schwanitz G, Gebhart E, Rott HD.

Am J Med Genet. 2000 Nov 27;95(3):191-2. No abstract available.

PMID:
11102921
30.

Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations.

Raff R, Schubert R, Schwanitz G, van der Ven K, Brühl P.

Eur J Pediatr Surg. 2000 Aug;10(4):270-5.

PMID:
11034519
31.

[Aberrations of chromosome 18 and their significance in genetic counseling].

Eggermann T, Bujdosó G, Haug T, Heidrich-Kaul C, Hofmann D, Fekete G, Dobos M, Schwanitz G.

Orv Hetil. 2000 Jul 23;141(30):1667-71. Hungarian.

PMID:
10962904
32.

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.

Trost D, Wiebe W, Uhlhaas S, Schwindt P, Schwanitz G.

J Med Genet. 2000 Jun;37(6):452-4. No abstract available.

33.

Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

Mergenthaler S, Wollmann HA, Burger B, Eggermann K, Kaiser P, Ranke MB, Schwanitz G, Eggermann T.

Ann Genet. 2000 Jan-Mar;43(1):15-21. Review.

PMID:
10818216
34.

Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping.

Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schröck E, Ried T, Engels H, Schwanitz G, Schubert R.

Prenat Diagn. 1999 Dec;19(12):1143-9. Review.

PMID:
10590433
35.

Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection.

Peschka B, Leygraaf J, Van der Ven K, Montag M, Schartmann B, Schubert R, van der Ven H, Schwanitz G.

Hum Reprod. 1999 Sep;14(9):2257-63.

PMID:
10469691
36.

Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.

Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G.

Ann Genet. 1999;42(2):75-80. Review.

PMID:
10434120
37.

Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations.

Kalz-Füller B, Sleegers E, Schwanitz G, Schubert R.

Clin Genet. 1999 May;55(5):362-6.

PMID:
10422808
38.

[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2].

Trost D, Engels H, Bauriedel G, Wiebe W, Schwanitz G.

Dtsch Med Wochenschr. 1999 Jan 8;124(1-2):3-7. German.

PMID:
9951451
39.

A case of de novo translocation 16;21: trisomy 16q phenotype and origin of the aberration.

Eggermann T, Kolin-Gerresheim I, Gerresheim F, Schwanitz G.

Ann Genet. 1998;41(4):205-8. Review.

PMID:
9881183
40.

[Undescended testis and hypospadia in sex chromosomal aberrations].

Raff R, Schubert R, Schwanitz G, van der Ven K, Schweikert HU, Brühl P.

Klin Padiatr. 1998 Nov-Dec;210(6):400-5. German.

PMID:
9871895
42.

Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection.

van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven HH.

Hum Reprod. 1998 Jan;13(1):48-54.

PMID:
9512227
43.

Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations.

Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H.

Hum Reprod. 1997 Dec;12(12):2635-40.

PMID:
9455827
44.

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.

Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G.

Am J Med Genet. 1997 Oct 3;72(1):106-10.

PMID:
9295085
45.

Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.

Rudnik-Schöneborn S, Schubert R, Majewski F, Haverkamp F, Schwanitz G.

Clin Genet. 1997 Aug;52(2):126-9.

PMID:
9298749
46.

Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection.

van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H.

Mol Hum Reprod. 1997 Aug;3(8):699-704.

PMID:
9294854
47.

Identification of supernumerary der(20) chromosomes by FISH in three patients.

Viersbach R, Engels H, Schwanitz G.

Am J Med Genet. 1997 Jun 13;70(3):278-83.

PMID:
9188666
48.

Tetrasomy 18p caused by paternal meiotic nondisjunction.

Eggermann T, Engels H, Apacik C, Moskalonek B, Müller-Navia J, Schwanitz G, Stengel-Rutkowski S.

Eur J Hum Genet. 1997 May-Jun;5(3):175-7. No abstract available.

PMID:
9272743
49.

Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18.

Eggermann T, Engels H, Heidrich-Kaul C, Moderau I, Schwanitz G.

Hum Genet. 1997 Apr;99(4):521-2.

PMID:
9099844
50.

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