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Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany.

Molecular cytogenetics

Wegner RD, Stumm M, Hofmann W.
PMID: 24955117
Mol Cytogenet. 2014 Jan 21;7:I14. doi: 10.1186/1755-8166-7-S1-I14. eCollection 2014.

No abstract available.

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Wegner RD, Stumm M, Hofmann W. Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany. Mol Cytogenet. 2014;7:I14doi: 10.1186/1755-8166-7-S1-I14.
Wegner, R. D., Stumm, M., & Hofmann, W. (2014). Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany. Molecular cytogenetics, 7I14. https://doi.org/10.1186/1755-8166-7-S1-I14
Wegner, Rolf-Dieter, et al. "Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany." Molecular cytogenetics vol. 7 (2014): I14. doi: https://doi.org/10.1186/1755-8166-7-S1-I14
Wegner RD, Stumm M, Hofmann W. Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany. Mol Cytogenet. 2014 Jan 21;7:I14. doi: 10.1186/1755-8166-7-S1-I14. eCollection 2014. PMID: 24955117; PMCID: PMC4045148.
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DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Human mutation

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.
PMID: 26457590
Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Epub 2015 Aug 07.

The original article to which this Erratum refers was published in Human Mutation 36(6):593–598(DOI:10.1002/humu22795).The authors realized that a co-author, Nuria C. Bramswig, was left off of the title page of this article at the time of submission. This erratum...

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Sukalo M, Tilsen F, Kayserili H, et al. DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Hum Mutat. 2015;36(11):1112doi: 10.1002/humu.22830.
Sukalo, M., Tilsen, F., Kayserili, H., Müller, D., Tüysüz, B., Ruddy, D. M., Wakeling, E., Ørstavik, K. H., Bramswig, N. C., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L., & Zenker, M. (2015). DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Human mutation, 36(11), 1112. https://doi.org/10.1002/humu.22830
Sukalo, Maja, et al. "DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies." Human mutation vol. 36,11 (2015): 1112. doi: https://doi.org/10.1002/humu.22830
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Epub 2015 Aug 07. PMID: 26457590.
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Nano- and microstructured materials for in vitro studies of the physiology of vascular cells.

Beilstein journal of nanotechnology

Greiner AM, Sales A, Chen H, Biela SA, Kaufmann D, Kemkemer R.
PMID: 28144512
Beilstein J Nanotechnol. 2016 Nov 08;7:1620-1641. doi: 10.3762/bjnano.7.155. eCollection 2016.

The extracellular environment of vascular cells in vivo is complex in its chemical composition, physical properties, and architecture. Consequently, it has been a great challenge to study vascular cell responses in vitro, either to understand their interaction with their...

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Greiner AM, Sales A, Chen H, et al. Nano- and microstructured materials for in vitro studies of the physiology of vascular cells. Beilstein J Nanotechnol. 2016;7:1620-1641doi: 10.3762/bjnano.7.155.
Greiner, A. M., Sales, A., Chen, H., Biela, S. A., Kaufmann, D., & Kemkemer, R. (2016). Nano- and microstructured materials for in vitro studies of the physiology of vascular cells. Beilstein journal of nanotechnology, 71620-1641. https://doi.org/10.3762/bjnano.7.155
Greiner, Alexandra M, et al. "Nano- and microstructured materials for in vitro studies of the physiology of vascular cells." Beilstein journal of nanotechnology vol. 7 (2016): 1620-1641. doi: https://doi.org/10.3762/bjnano.7.155
Greiner AM, Sales A, Chen H, Biela SA, Kaufmann D, Kemkemer R. Nano- and microstructured materials for in vitro studies of the physiology of vascular cells. Beilstein J Nanotechnol. 2016 Nov 08;7:1620-1641. doi: 10.3762/bjnano.7.155. eCollection 2016. PMID: 28144512; PMCID: PMC5238670.
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Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

Genes

Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yoeruek E, Vetter J, Kohl S, Wissinger B.
PMID: 29053642
Genes (Basel). 2017 Oct 20;8(10). doi: 10.3390/genes8100283.

Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, and genetic factors.

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Llavona P, Pinelli M, Mutarelli M, et al. Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes (Basel). 2017;8(10)doi: 10.3390/genes8100283.
Llavona, P., Pinelli, M., Mutarelli, M., Marwah, V. S., Schimpf-Linzenbold, S., Thaler, S., Yoeruek, E., Vetter, J., Kohl, S., & Wissinger, B. (2017). Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes, 8(10), . https://doi.org/10.3390/genes8100283
Llavona, Pablo, et al. "Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases." Genes vol. 8,10 (2017). doi: https://doi.org/10.3390/genes8100283
Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yoeruek E, Vetter J, Kohl S, Wissinger B. Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes (Basel). 2017 Oct 20;8(10). doi: 10.3390/genes8100283. PMID: 29053642; PMCID: PMC5664133.
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[Regional shifts in the vertebral column of inbred mice treated with X-rays or FCdR].

Wilhelm Roux' Archiv fur Entwicklungsmechanik der Organismen

Ohmori K.
PMID: 28304788
Wilhelm Roux Arch Entwickl Mech Org. 1970 Jun;166(2):124-135. doi: 10.1007/BF00576989.

In three inbred-strains of mice (C57 BL/6, C57 BL/10 and C57 BL/Ks) 5-fluoro2'-deoxycytidine (FCdR) and X-rays have been applied at several stages of pregnancy. The shiftings of the regions of the vertebral column in the offspring have been examined....

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Ohmori K. über die Verschiebungen der Wirbelsulengrenzen, induziert durch Röntgenstrahlen und 5-Fluor-2′-desoxycytidin (FCdR) bei Muse-Inzuchtstmmen. [Regional shifts in the vertebral column of inbred mice treated with X-rays or FCdR]. Wilhelm Roux Arch Entwickl Mech Org. 1970;166(2):124-135doi: 10.1007/BF00576989.
Ohmori, K. (1970). über die Verschiebungen der Wirbelsulengrenzen, induziert durch Röntgenstrahlen und 5-Fluor-2′-desoxycytidin (FCdR) bei Muse-Inzuchtstmmen. [Regional shifts in the vertebral column of inbred mice treated with X-rays or FCdR]. Wilhelm Roux' Archiv fur Entwicklungsmechanik der Organismen, 166(2), 124-135. https://doi.org/10.1007/BF00576989
Ohmori, Kazuo. "über die Verschiebungen der Wirbelsulengrenzen, induziert durch Röntgenstrahlen und 5-Fluor-2′-desoxycytidin (FCdR) bei Muse-Inzuchtstmmen." [Regional shifts in the vertebral column of inbred mice treated with X-rays or FCdR]. Wilhelm Roux' Archiv fur Entwicklungsmechanik der Organismen vol. 166,2 (1970): 124-135. doi: https://doi.org/10.1007/BF00576989
Ohmori K. über die Verschiebungen der Wirbelsulengrenzen, induziert durch Röntgenstrahlen und 5-Fluor-2′-desoxycytidin (FCdR) bei Muse-Inzuchtstmmen. [Regional shifts in the vertebral column of inbred mice treated with X-rays or FCdR]. Wilhelm Roux Arch Entwickl Mech Org. 1970 Jun;166(2):124-135. doi: 10.1007/BF00576989. German. PMID: 28304788.
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[Variability in developmental stage of mouse embryos (C 5 7 BL) in the early period of organogenesis].

Wilhelm Roux' Archiv fur Entwicklungsmechanik der Organismen

Yamamura H.
PMID: 28304451
Wilhelm Roux Arch Entwickl Mech Org. 1969 Sep;162(3):218-242. doi: 10.1007/BF00576930.

Individual differences in developmental stages of mouse embryos of the two related strains C57 BL/6JHanFfm and C57BL/10JFfm during the period between day VIII and day X p.c. have been examined.The following results were obtained: 1. A remarkable variability in...

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Yamamura H. Individuelle Unterschiede des Entwicklungsstandes bei Embryonen der Maus (C 5 7 BL) in der frühen Phase der Organogenese. [Variability in developmental stage of mouse embryos (C 5 7 BL) in the early period of organogenesis]. Wilhelm Roux Arch Entwickl Mech Org. 1969;162(3):218-242doi: 10.1007/BF00576930.
Yamamura, H. (1969). Individuelle Unterschiede des Entwicklungsstandes bei Embryonen der Maus (C 5 7 BL) in der frühen Phase der Organogenese. [Variability in developmental stage of mouse embryos (C 5 7 BL) in the early period of organogenesis]. Wilhelm Roux' Archiv fur Entwicklungsmechanik der Organismen, 162(3), 218-242. https://doi.org/10.1007/BF00576930
Yamamura, H. "Individuelle Unterschiede des Entwicklungsstandes bei Embryonen der Maus (C 5 7 BL) in der frühen Phase der Organogenese." [Variability in developmental stage of mouse embryos (C 5 7 BL) in the early period of organogenesis]. Wilhelm Roux' Archiv fur Entwicklungsmechanik der Organismen vol. 162,3 (1969): 218-242. doi: https://doi.org/10.1007/BF00576930
Yamamura H. Individuelle Unterschiede des Entwicklungsstandes bei Embryonen der Maus (C 5 7 BL) in der frühen Phase der Organogenese. [Variability in developmental stage of mouse embryos (C 5 7 BL) in the early period of organogenesis]. Wilhelm Roux Arch Entwickl Mech Org. 1969 Sep;162(3):218-242. doi: 10.1007/BF00576930. German. PMID: 28304451.
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[No title available]

Oecologia

Hinz W, Scheil HG.
PMID: 28307204
Oecologia. 1972 Mar;11(1):45-54. doi: 10.1007/BF00345709.

The filtration rates of four species of eulamellibranchs (Dreissena polymorpha, Sphaerium corneum, Pisidium amnicum and Pisidium casertanum) are measured at high (14°, 15° respectively 20°C) and low (5° respectively 6°C) temperatures by an indirect method. The differences of filtration...

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Hinz W, Scheil HG. Zur filtrationsleistung von Dreissena, Sphaerium und Pisidium (Eulamellibranchiata). . Oecologia. 1972;11(1):45-54doi: 10.1007/BF00345709.
Hinz, W., & Scheil, H. G. (1972). Zur filtrationsleistung von Dreissena, Sphaerium und Pisidium (Eulamellibranchiata). . Oecologia, 11(1), 45-54. https://doi.org/10.1007/BF00345709
Hinz, W, and Scheil, H G. "Zur filtrationsleistung von Dreissena, Sphaerium und Pisidium (Eulamellibranchiata)." . Oecologia vol. 11,1 (1972): 45-54. doi: https://doi.org/10.1007/BF00345709
Hinz W, Scheil HG. Zur filtrationsleistung von Dreissena, Sphaerium und Pisidium (Eulamellibranchiata). . Oecologia. 1972 Mar;11(1):45-54. doi: 10.1007/BF00345709. German. PMID: 28307204.
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Prenatal karyotyping: when, how and whom?.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Holzgreve W, Tercanli S, Schneider HP, Miny P.
PMID: 12797012
Ultrasound Obstet Gynecol. 1992 Jan 01;2(1):64-9. doi: 10.1046/j.1469-0705.1992.02010064.x.

No abstract available.

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Holzgreve W, Tercanli S, Schneider HP, et al. Prenatal karyotyping: when, how and whom?. Ultrasound Obstet Gynecol. 1992;2(1):64-9doi: 10.1046/j.1469-0705.1992.02010064.x.
Holzgreve, W., Tercanli, S., Schneider, H. P., & Miny, P. (1992). Prenatal karyotyping: when, how and whom?. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2(1), 64-9. https://doi.org/10.1046/j.1469-0705.1992.02010064.x
Holzgreve, W, et al. "Prenatal karyotyping: when, how and whom?." Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology vol. 2,1 (1992): 64-9. doi: https://doi.org/10.1046/j.1469-0705.1992.02010064.x
Holzgreve W, Tercanli S, Schneider HP, Miny P. Prenatal karyotyping: when, how and whom?. Ultrasound Obstet Gynecol. 1992 Jan 01;2(1):64-9. doi: 10.1046/j.1469-0705.1992.02010064.x. PMID: 12797012.
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Characterization of Small Marker Chromosomes (SMC) by Recently Developed Molecular Cytogenetic Approaches.

Journal of the Association of Genetic Technologists

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.
PMID: 15213421
J Assoc Genet Technol. 2003;29(1):5-10.

No abstract available.

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Liehr T, Nietzel A, Starke H, et al. Characterization of Small Marker Chromosomes (SMC) by Recently Developed Molecular Cytogenetic Approaches. J Assoc Genet Technol. 2003;29(1):5-10
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. Journal of the Association of Genetic Technologists, 29(1), 5-10.
Liehr, Thomas, et al. "Characterization of Small Marker Chromosomes (SMC) by Recently Developed Molecular Cytogenetic Approaches." Journal of the Association of Genetic Technologists vol. 29,1 (2003): 5-10.
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. Characterization of Small Marker Chromosomes (SMC) by Recently Developed Molecular Cytogenetic Approaches. J Assoc Genet Technol. 2003;29(1):5-10. PMID: 15213421.
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The optimization of polar body diagnosis: a consequence of the german embryo protection act.

Deutsches Arzteblatt international

Propping P.
PMID: 19629196
Dtsch Arztebl Int. 2008 Mar;105(11):189. doi: 10.3238/arztebl.2008.0189. Epub 2008 Mar 14.

No abstract available.

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Propping P. The optimization of polar body diagnosis: a consequence of the german embryo protection act. Dtsch Arztebl Int. 2008;105(11):189doi: 10.3238/arztebl.2008.0189.
Propping, P. (2008). The optimization of polar body diagnosis: a consequence of the german embryo protection act. Deutsches Arzteblatt international, 105(11), 189. https://doi.org/10.3238/arztebl.2008.0189
Propping, Peter. "The optimization of polar body diagnosis: a consequence of the german embryo protection act." Deutsches Arzteblatt international vol. 105,11 (2008): 189. doi: https://doi.org/10.3238/arztebl.2008.0189
Propping P. The optimization of polar body diagnosis: a consequence of the german embryo protection act. Dtsch Arztebl Int. 2008 Mar;105(11):189. doi: 10.3238/arztebl.2008.0189. Epub 2008 Mar 14. PMID: 19629196; PMCID: PMC2696745.
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Hereditary cancer syndromes.

Deutsches Arzteblatt international

Rahner N, Steinke V.
PMID: 19623293
Dtsch Arztebl Int. 2008 Oct;105(41):706-14. doi: 10.3238/arztebl.2008.0706. Epub 2008 Oct 10.

INTRODUCTION: Persons carrying mutations for hereditary cancer syndromes are at high risk for the development of tumors at an early age, as well as the synchronous or metachronous development of multiple tumors of the corresponding tumor spectrum. The genetic...

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Rahner N, Steinke V. Hereditary cancer syndromes. Dtsch Arztebl Int. 2008;105(41):706-14doi: 10.3238/arztebl.2008.0706.
Rahner, N., & Steinke, V. (2008). Hereditary cancer syndromes. Deutsches Arzteblatt international, 105(41), 706-14. https://doi.org/10.3238/arztebl.2008.0706
Rahner, Nils, and Steinke, Verena. "Hereditary cancer syndromes." Deutsches Arzteblatt international vol. 105,41 (2008): 706-14. doi: https://doi.org/10.3238/arztebl.2008.0706
Rahner N, Steinke V. Hereditary cancer syndromes. Dtsch Arztebl Int. 2008 Oct;105(41):706-14. doi: 10.3238/arztebl.2008.0706. Epub 2008 Oct 10. PMID: 19623293; PMCID: PMC2696972.
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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?.

Molecular cytogenetics

Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T.
PMID: 18471318
Mol Cytogenet. 2008 Apr 15;1:6. doi: 10.1186/1755-8166-1-6.

BACKGROUND: Small supernumerary marker chromosomes (sSMC) are present ~2.6 x 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel...

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Trifonov V, Fluri S, Binkert F, et al. Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?. Mol Cytogenet. 2008;1:6doi: 10.1186/1755-8166-1-6.
Trifonov, V., Fluri, S., Binkert, F., Nandini, A., Anderson, J., Rodriguez, L., Gross, M., Kosyakova, N., Mkrtchyan, H., Ewers, E., Reich, D., Weise, A., & Liehr, T. (2008). Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?. Molecular cytogenetics, 16. https://doi.org/10.1186/1755-8166-1-6
Trifonov, Vladimir, et al. "Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?." Molecular cytogenetics vol. 1 (2008): 6. doi: https://doi.org/10.1186/1755-8166-1-6
Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T. Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?. Mol Cytogenet. 2008 Apr 15;1:6. doi: 10.1186/1755-8166-1-6. PMID: 18471318; PMCID: PMC2375881.
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Showing 1 to 12 of 256 entries