Pasutto, Francesca: search on Z-Library

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1

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Gabriela Chavarria-Soley, Heinrich Sticht, Eleni Aklillu, Magnus Ingelman-Sundberg, Francesca Pasutto, André Reis, Bernd Rautenstrauss

Journal:

Year:

2008

Language:

english

File:

PDF, 384 KB

english, 2008

2

Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to STRA6 mutations—What are the minimal criteria?

Reeval Segel, Ephrat Levy-Lahad, Francesca Pasutto, Elie Picard, Anita Rauch, Gheona Alterescu, Michael S. Schimmel

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 175 KB

english, 2009

3

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht, Philipp Berger, Ueli Suter, Bernal Morera, Gerardo Del Valle, James R. Lupski, Arif Ekici, Francesca Pasutto, Sabine Endele, Ramiro Barrant

Journal:

Year:

2009

Language:

english

File:

PDF, 48 KB

english, 2009

4

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, Gerhard Hammersen, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, David Chitayat,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.21 MB

english, 2007

5

Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Krumbiegel, Mandy, Pasutto, Francesca, Mardin, Christian Y., Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Zenkel, Matthias, Weber, Bernhard H. F., Kruse, Friedrich E., Schlo¨tzer-Schrehardt, Ursu

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

6

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

Francesca Pasutto, Tomoya Matsumoto, Christian Y. Mardin, Heinrich Sticht, Johann H. Brandstätter, Karin Michels-Rautenstrauss, Nicole Weisschuh, Eugen Gramer, Wishal D. Ramdas, Leonieke M.E. van Kool

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1012 KB

english, 2009

7

Michael and substitution reactions of bicyclic tetronic, tetramic and thiotetronic esters.

Alberto Bertucco, John Brennan, Marco Fachini, Sabine Kluge, Patrick J. Murphy, Francesca Pasutto, Raffaella Signorini, Harri Lloyd Williams

Journal:

Year:

1994

Language:

english

File:

PDF, 1.20 MB

english, 1994

8

Substitution and Michael reactions of bicyclic tetronic, tetramic and thiotetronic esters

Bertucco, Alberto, Brennan, J., Fachini, Marco, Kluge, Sabine, Murphy, Patrick J., Pasutto, Francesca, Signorini, Raffaella, Williams, Harri Lloyd

Journal:

Journal of the Chemical Society Perkin Transactions 1

Year:

1993

Language:

english

File:

PDF, 391 KB

english, 1993

9

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

Steffen Uebe, Francesca Pasutto, Mandy Krumbiegel, Denny Schanze, Arif B Ekici, André Reis

Journal:

BMC Bioinformatics

Year:

2010

Language:

english

File:

PDF, 1.11 MB

english, 2010

10

Association of LOXL1 Common Sequence Variants in German and Italian Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Pasutto, Francesca, Krumbiegel, Mandy, Mardin, Christian Y., Paoli, Daniela, La¨mmer, Robert, Weber, Bernhard H. F., Kruse, Friedrich E., Schlo¨tzer-Schrehardt, Ursula, Reis, Andre´

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

11

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

Pasutto, Francesca, Zenkel, Matthias, Hoja, Ursula, Berner, Daniel, Uebe, Steffen, Ferrazzi, Fulvia, Schödel, Johannes, Liravi, Panah, Ozaki, Mineo, Paoli, Daniela, Frezzotti, Paolo, Mizoguchi, Takano

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 1.66 MB

english, 2017

12

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

Pasutto, Francesca, Mardin, Christian Y., Michels-Rautenstrauss, Karin, Weber, Bernhard H. F., Sticht, Heinrich, Chavarria-Soley, Gabriela, Rautenstrauss, Bernd, Kruse, Friedrich, Reis, Andre´

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 138 KB

english, 2008

13

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study

Christiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, Francesca Pasutto, Eva Reinthal, Bernd Wissinger, Nicole Weisschuh

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 545 KB

english, 2009

14

Response to Liu et al.

Francesca Pasutto, André Reis

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

15

LOXL1 Deficiency in the Lamina Cribrosa as Candidate Susceptibility Factor for a Pseudoexfoliation-Specific Risk of Glaucoma

Schlötzer-Schrehardt, Ursula, Hammer, Christian M., Krysta, Anita W., Hofmann-Rummelt, Carmen, Pasutto, Francesca, Sasaki, Takako, Kruse, Friedrich E., Zenkel, Matthias

Journal:

Year:

2012

Language:

english

File:

PDF, 6.39 MB

english, 2012

16

Impact of single nucleotide polymorphisms in the VEGFR2 gene on endothelial cell activation under non‑uniform shear stress

Schacher, Nora, Raaz‑Schrauder, Dorette, Pasutto, Francesca, Stumpfe, Florian, Tauchi, Miyuki, Dietel, Barbara, Achenbach, Stephan, Urschel, Katharina

Journal:

International Journal of Molecular Medicine

Year:

2019

Language:

english

File:

PDF, 1.33 MB

english, 2019

17

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Krumbiegel, Mandy, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula, Uebe, Steffen, Zenkel, Matthias, Mardin, Christian Y, Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Becker, Christian

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 707 KB

english, 2010

18

Impact of single nucleotide polymorphisms RS1870377 A>T and RS2305948 C>T on endothelial cell activation under non-uniform shear stress

Urschel, Katharina, Schacher, Nora M., Pasutto, Francesca, Achenbach, Stephan, Raaz-Schrauder, Dorette, Schrauder, Michael G., Stumpfe, Florian, Dietel, Barbara

Journal:

Atherosclerosis

Year:

2017

Language:

english

File:

PDF, 237 KB

english, 2017

19

Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma

Pasutto, Francesca, Chavarria-Soley, Gabriela, Mardin, Christian Y., Michels-Rautenstrauss, Karin, Ingelman-Sundberg, Magnus, Fernández-Martínez, Lorena, Weber, Bernhard H. F., Rautenstrauss, Bernd, R

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 270 KB

english, 2010

20

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

van Koolwijk, Leonieke M. E., Ramdas, Wishal D., Ikram, M. Kamran, Jansonius, Nomdo M., Pasutto, Francesca, Hysi, Pirro G., Macgregor, Stuart, Janssen, Sarah F., Hewitt, Alex W., Viswanathan, Ananth C

Journal:

Year:

2012

Language:

english

File:

PDF, 713 KB

english, 2012

21

Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response

Berner, Daniel, Zenkel, Matthias, Pasutto, Francesca, Hoja, Ursula, Liravi, Panah, Gusek-Schneider, Gabriele C., Kruse, Friedrich E., Schödel, Johannes, Reis, Andre, Schlötzer-Schrehardt, Ursula

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

22

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome

Pasutto, Francesca, Flinter, Frances, Rauch, Anita, Reis, André

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 511 KB

english, 2017

23

Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma

Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Gramer, Gwendolyn, Wissinger, Bernd, Weisschuh, Nicole

Journal:

Journal of Glaucoma

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

24

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

Siggs, Owen M., Souzeau, Emmanuelle, Pasutto, Francesca, Dubowsky, Andrew, Smith, James E. H., Taranath, Deepa, Pater, John, Rait, Julian L., Narita, Andrew, Mauri, Lucia, Del Longo, Alessandra, Reis,

Journal:

JAMA Ophthalmology

Year:

2019

Language:

english

File:

PDF, 420 KB

english, 2019

25

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht, Philipp Berger, Ueli Suter, Bernal Morera, Gerardo Del Valle, James R. Lupski, Arif Ekici, Francesca Pasutto, Sabine Endele, Ramiro Barrant

Journal:

Year:

2009

Language:

english

File:

PDF, 558 KB

english, 2009

26

Genotype-Correlated Expression of Lysyl Oxidase-Like 1 in Ocular Tissues of Patients with Pseudoexfoliation Syndrome/Glaucoma and Normal Patients

Ursula Schlötzer-Schrehardt, Francesca Pasutto, Pascal Sommer, Ian Hornstra, Friedrich E. Kruse, Gottfried O.H. Naumann, André Reis, Matthias Zenkel

Journal:

The American Journal of Pathology

Year:

2008

Language:

english

File:

PDF, 2.13 MB

english, 2008

27

Apolipoprotein E Genotypes in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Krumbiegel, Mandy, Pasutto, Francesca, Mardin, Christian Y., Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Weber, Bernhard H.F., Kruse, Friedrich E., Schlötzer-Schrehardt, Ursula, Reis, André

Journal:

Journal of Glaucoma

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

28

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

Christiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, Francesca Pasutto, Bernd Wissinger, Nicole Weisschuh

Journal:

Year:

2010

Language:

english

File:

PDF, 205 KB

english, 2010

29

Variants in RUNX3 Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis

Apel, Maria, Uebe, Steffen, Bowes, John, Giardina, Emiliano, Korendowych, Eleanor, Juneblad, Kristina, Pasutto, Francesca, Ekici, Arif B., McManus, Ross, Ho, Pauline, Bruce, Ian N., Ryan, Anthony W.,

Journal:

Arthritis & Rheumatism

Year:

2013

Language:

english

File:

PDF, 171 KB

english, 2013

30

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy

Pasutto, Francesca, Ekici, Arif, Reis, André, Kremers, Jan, Huchzermeyer, Cord

Journal:

Ophthalmic Genetics

Year:

2018

Language:

english

File:

PDF, 1.62 MB

english, 2018

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