Altmuller, Janine: search on Z-Library

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1

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Demenais, Florence, Margaritte-Jeannin, Patricia, Barnes, Kathleen C., Cookson, William O. C., Altmüller, Janine, Ang, Wei, Barr, R. Graham, Beaty, Terri H., Becker, Allan B., Beilby, John, Bisgaard,

Journal:

Nature Genetics

Year:

2018

Language:

english

File:

PDF, 1.95 MB

english, 2018

2

Expression and functionality of TRPV1 in breast cancer cells

Weber, Lea V, Al-Refae, Klaudia, Wölk, Gerhard, Bonatz, Gabriele, Altmüller, Janine, Becker, Christian, Gisselmann, Günter, Hatt, Hanns

Journal:

Breast Cancer Targets and Therapy

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

3

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

Broekaert, Ilse Julia, Becker, Kerstin, Gottschalk, Ingo, Körber, Friederike, Dötsch, Jörg, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Hünseler, Christoph, Cirak, Sebahattin

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 742 KB

english, 2018

4

Two olfactory receptors -OR2A4/7 and OR51B5- differentially affect epidermal proliferation and differentiation

Tsai, Teresa, Veitinger, Sophie, Peek, Irina, Busse, Daniela, Eckardt, Josephine, Vladimirova, Dilyana, Jovancevic, Nikolina, Wojcik, Sebastian, Gisselmann, Günter, Altmüller, Janine, Ständer, Sonja,

Journal:

Experimental Dermatology

Year:

2016

Language:

english

File:

PDF, 882 KB

english, 2016

5

Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin

Dennenmoser, Stefan, Sedlazeck, Fritz J., Iwaszkiewicz, Elzbieta, Li, Xiang-Yi, Altmüller, Janine, Nolte, Arne W.

Journal:

Molecular Ecology

Year:

2017

Language:

english

File:

PDF, 492 KB

english, 2017

6

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

Kalasova, Ilona, Hanzlikova, Hana, Gupta, Neerja, Li, Yun, Altmüller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Gökhan, Caldecott, Keith W.

Journal:

Neurology: Genetics

Year:

2019

Language:

english

File:

PDF, 633 KB

english, 2019

7

Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity

Bettecken, Thomas, Frenkel, Zakharia M., Altmüller, Janine, Nürnberg, Peter, Trifonov, Edward N.

Journal:

Journal of Biomolecular Structure and Dynamics

Year:

2012

Language:

english

File:

PDF, 281 KB

english, 2012

8

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

Dejanovic, Borislav, Lal, Dennis, Catarino, Claudia B., Arjune, Sita, Belaidi, Abdel A., Trucks, Holger, Vollmar, Christian, Surges, Rainer, Kunz, Wolfram S., Motameny, Susanne, Altmüller, Janine, Köh

Journal:

Neurobiology of Disease

Year:

2014

Language:

english

File:

PDF, 927 KB

english, 2014

9

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS

Bartram, Malte P., Habbig, Sandra, Pahmeyer, Caroline, Höhne, Martin, Weber, Lutz T., Thiele, Holger, Altmüller, Janine, Kottoor, Nina, Wenzel, Andrea, Krueger, Marcus, Schermer, Bernhard, Benzing, Th

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

10

HeterozygousHNRNPUvariants cause early onset epilepsy and severe intellectual disability

Bramswig, Nuria C., Lüdecke, Hermann-Josef, Hamdan, Fadi F., Altmüller, Janine, Beleggia, Filippo, Elcioglu, Nursel H., Freyer, Catharine, Gerkes, Erica H., Demirkol, Yasemin Kendir, Knupp, Kelly G.,

Journal:

Year:

2017

Language:

english

File:

PDF, 798 KB

english, 2017

11

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy

Weissbach, Susann, Reinert, Marie-Christine, Altmüller, Janine, Krätzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nürnberg, Peter, Gärtner, Jutta

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 2.15 MB

english, 2017

12

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe - ()] Posters - P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations

Ç&imath, ral&imath, , Ceren, Ergin, Hacer, Özdemir, Özmert MA, Yis, Uluç, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Wirth, Brunhilde, Zeynep, Selcan

Language:

english

File:

PDF, 89 KB

english

13

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudru

Journal:

Year:

2013

Language:

english

File:

PDF, 1.23 MB

english, 2013

14

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

Hendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, Ulrike Maschke, Janine Altmüller, Peter Frommolt, Birgit Zirn, Friedrich Ebinger, Hartmut Siemes, Peter Nürnberg, Knut Brockmann, Jutta Gärtner

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 156 KB

english, 2012

15

Ion Transporter NKCC1, Modulator of Neurogenesis in Murine Olfactory Neurons

Haering, Claudia, Kanageswaran, Ninthujah, Bouvain, Pascal, Scholz, Paul, Altmüller, Janine, Becker, Christian, Gisselmann, Günter, Wäring-Bischof, Janine, Hatt, Hanns

Journal:

Journal of Biological Chemistry

Year:

2015

Language:

english

File:

PDF, 2.54 MB

english, 2015

16

Assessing the Enrichment Performance in Targeted Resequencing Experiments

Peter Frommolt, Ali T. Abdallah, Janine Altmüller, Susanne Motameny, Holger Thiele, Christian Becker, Kathryn Stemshorn, Matthias Fischer, Tobias Freilinger, Peter Nürnberg

Journal:

Year:

2012

Language:

english

File:

PDF, 448 KB

english, 2012

17

Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms

Yulia Vistoropsky, Sergey Ermakov, Mohammad Reza Toliat, Svetlana Trofimov, Janine Altmüller, Ida Malkin, Peter Nürnberg, Gregory Livshits

Journal:

Year:

2010

Language:

english

File:

PDF, 499 KB

english, 2010

18

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Varga, Rita-Eva, Schüle, Rebecca, Fadel, Hicham, Valenzuela, Irene, Speziani, Fiorella, Gonzalez, Michael, Rudenskaia, Galina, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Alvarez, Victoria, G

Journal:

Year:

2013

Language:

english

File:

PDF, 554 KB

english, 2013

19

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

Altmüller, Janine, Budde, Birgit S., Nürnberg, Peter

Journal:

Biological Chemistry

Year:

2014

Language:

english

File:

PDF, 624 KB

english, 2014

20

A novel homozygous splicing mutation ofCASC5causes primary microcephaly in a large Pakistani family

Szczepanski, Sandra, Hussain, Muhammad Sajid, Sur, Ilknur, Altmüller, Janine, Thiele, Holger, Abdullah, Uzma, Waseem, Syeda Seema, Moawia, Abubakar, Nürnberg, Gudrun, Noegel, Angelika Anna, Baig, Shah

Journal:

Year:

2016

Language:

english

File:

PDF, 4.68 MB

english, 2016

21

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

Spier, Isabel, Kerick, Martin, Drichel, Dmitriy, Horpaopan, Sukanya, Altmüller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao, Becker, Tim, Lifton, Richard P.,

Journal:

Familial Cancer

Year:

2016

Language:

english

File:

PDF, 474 KB

english, 2016

22

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yi

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.33 MB

english, 2014

23

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

Bögershausen, Nina, Altunoglu, Umut, Beleggia, Filippo, Yigit, Gökhan, Kayserili, Hülya, Nürnberg, Peter, Li, Yun, Altmüller, Janine, Wollnik, Bernd

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.46 MB

english, 2016

24

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

Fazeli, Walid, Herkenrath, Peter, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nürnberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmüller, Janine, Volk, Alexander E., Kubisc

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.29 MB

english, 2017

25

Trigeminal Ganglion Neurons of Mice Show Intracellular Chloride Accumulation and Chloride-Dependent Amplification of Capsaicin-Induced Responses

Schöbel, Nicole, Radtke, Debbie, Lübbert, Matthias, Gisselmann, Günter, Lehmann, Ramona, Cichy, Annika, Schreiner, Benjamin S. P., Altmüller, Janine, Spector, Alan C., Spehr, Jennifer, Hatt, Hanns, We

Journal:

Year:

2012

Language:

english

File:

PDF, 631 KB

english, 2012

26

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

Stefanie Weber, Holger Thiele, Sevgi Mir, Mohammad Reza Toliat, Betül Sozeri, Heiko Reutter, Markus Draaken, Michael Ludwig, Janine Altmüller, Peter Frommolt, Helen M. Stuart, Parisa Ranjzad, Neil A.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.16 MB

english, 2011

27

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Gudrun Nürnberg, Muhammad Farooq, Ilyas Ahmad, Thomas Alef, Hans Christian Hennies, Martin Technau, Janine Altmüller, Peter Frommolt, Holge

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.26 MB

english, 2012

28

A large deletion inRPGRcauses XLPRA in Weimaraner dogs

Kropatsch, Regina, Akkad, Denis A., Frank, Matthias, Rosenhagen, Carsten, Altmüller, Janine, Nürnberg, Peter, Epplen, Jörg T., Dekomien, Gabriele

Journal:

Canine Genetics and Epidemiology

Year:

2016

Language:

english

File:

PDF, 936 KB

english, 2016

29

The WOPR Protein Ros1 Is a Master Regulator of Sporogenesis and Late Effector Gene Expression in the Maize Pathogen Ustilago maydis

Tollot, Marie, Assmann, Daniela, Becker, Christian, Altmüller, Janine, Dutheil, Julien Y., Wegner, Carl-Eric, Kahmann, Regine, Wang, Yuanchao

Journal:

Year:

2016

Language:

english

File:

PDF, 16.72 MB

english, 2016

30

Corrigendum to: Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem

Frerichs, Anneke, Engelhorn, Julia, Altmüller, Janine, Gutierrez-Marcos, Jose, Werr, Wolfgang

Journal:

Journal of Experimental Botany

Year:

2019

Language:

english

File:

PDF, 1015 KB

english, 2019

31

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Ralser, Damian J., Basmanav, F. Buket Ü., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michélle, Pulimood, Susanne A., Altmüller, Janine

Journal:

The Journal of clinical investigation

Year:

2017

Language:

english

File:

PDF, 2.30 MB

english, 2017

32

Sequenzierung in der nächsten Generation — Forschung und Diagnostik

Altmüller, Janine, Budde, Birgit

Journal:

Year:

2012

Language:

german

File:

PDF, 559 KB

german, 2012

33

A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle

Awazawa, Motoharu, Gabel, Paula, Tsaousidou, Eva, Nolte, Hendrik, Krüger, Marcus, Schmitz, Joel, Ackermann, P Justus, Brandt, Claus, Altmüller, Janine, Motameny, Susanne, Wunderlich, F Thomas, Kornfel

Journal:

Nature Medicine

Year:

2017

Language:

english

File:

PDF, 1.54 MB

english, 2017

34

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

Wagener, Rabea, Seufert, Julian, Raimondi, Francesco, Bens, Susanne, Kleinheinz, Kortine, Nagel, Inga, Altmüller, Janine, Thiele, Holger, Hübschmann, Daniel, Kohler, Christian W., Nürnberg, Peter, Au-

Journal:

Year:

2018

Language:

english

File:

PDF, 3.74 MB

english, 2018

35

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Ralser, Damian J., Basmanav, F. Buket Ü., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michélle, Pulimood, Susanne A., Altmüller, Janine

Journal:

The Journal of clinical investigation

Year:

2017

File:

PDF, 2.30 MB

2017

36

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing

Altmüller, Janine, Haenisch, Britta, Kawalia, Amit, Menzen, Markus, Nöthen, Markus M., Fier, Heide, Molderings, Gerhard J.

Journal:

Year:

2017

Language:

english

File:

PDF, 390 KB

english, 2017

37

Specific chromatin changes mark lateral organ founder cells in the Arabidopsis thaliana inflorescence meristem

Frerichs, Anneke, Engelhorn, Julia, Altmüller, Janine, Gutierrez-Marcos, Jose, Werr, Wolfgang

Journal:

Journal of Experimental Botany

Year:

2019

Language:

english

File:

PDF, 4.91 MB

english, 2019

38

Reconstruction of rearranged T‐cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T‐cell prolymphocytic leukemia

Patil, Paurnima, Cieslak, Agata, Bernhart, Stephan H., Toprak, Umut H., Wagener, Rabea, López, Cristina, Wiehle, Laura, Bens, Susanne, Altmüller, Janine, Franitza, Marek, Scholz, Ingrid, Jayne, Sandri

Journal:

Genes, Chromosomes and Cancer

Year:

2019

Language:

english

File:

PDF, 1.20 MB

english, 2019

39

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

Janine Altmüller, Corinna Seidel, Young-Ae Lee, Sabine Loesgen, Dieter Bulle, Frank Friedrichs, Heidemarie Jellouschek, Julika Kelber, Angela Keller, Antje Schuster, Michael Silbermann, Wolfgang Wahle

Journal:

BMC Pulmonary Medicine

Year:

2005

Language:

english

File:

PDF, 563 KB

english, 2005

40

High-resolution snp scan of chromosome 6p21 in pooled samples from patients with complex diseases

Nicole Herbon, Monika Werner, Christine Braig, Henning Gohlke, Gaby Dütsch, Thomas Illig, Janine Altmüller, Jochen Hampe, Annette Lantermann, Stefan Schreiber, Ezio Bonifacio, Annette Ziegler, Sibylle

Journal:

Year:

2003

Language:

english

File:

PDF, 496 KB

english, 2003

41

Next generation sequencing of the Ago2 interacting transcriptome identified chemokine family members as novel targets of neuronal microRNAs in hepatic stellate cells

Noetel, Andrea, Elfimova, Natalia, Altmüller, Janine, Becker, Christian, Becker, Diana, Lahr, Wolfgang, Nürnberg, Peter, Wasmuth, Hermann, Teufel, Andreas, Büttner, Reinhard, Dienes, Hans Peter, Odent

Journal:

Journal of Hepatology

Year:

2013

Language:

english

File:

PDF, 916 KB

english, 2013

42

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmüller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, S

Journal:

International Journal of Cancer

Year:

2015

Language:

english

File:

PDF, 3.21 MB

english, 2015

43

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2

Moosa, Shahida, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Cho, Tae-Joon, Kim, Ok-Hwa, Nishimura, Gen, Wollnik, Bernd, V

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 671 KB

english, 2017

44

Riboflavin responsive neuromusculary disorders; broad phenotypic spectrum and importance of genetic analyses

Polat, Ipek, Yiş, Uluç, Cırak, Sebahattin, Becker, Kerstin, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Wirth, Brunhilde, Okur, Derya, Cıralı, Ceren, Ayanoglu, Muge, Edem, Pinar, Paketci, Cem,

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

45

Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish

Dennenmoser, Stefan, Sedlazeck, Fritz J., Schatz, Michael C., Altmüller, Janine, Zytnicki, Matthias, Nolte, Arne W.

Journal:

Molecular Ecology

Year:

2018

Language:

english

File:

PDF, 850 KB

english, 2018

46

A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant angiosperms

Kivivirta, Kimmo, Herbert, Denise, Lange, Matthias, Beuerlein, Knut, Altmüller, Janine, Becker, Annette

Journal:

Year:

2019

File:

PDF, 2.31 MB

2019

47

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Gordon, Christopher T, Xue, Shifeng, Yigit, Gökhan, Filali, Hicham, Chen, Kelan, Rosin, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J, McGowan, Ruth, Magee, Alex C, Altmüller, Janine,

Journal:

Nature Genetics

Year:

2017

Language:

english

File:

PDF, 2.77 MB

english, 2017

48

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

Moosa, Shahida, Loeys, Bart, Altmüller, Janine, Mortier, Geert, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Vogel, Ida

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 346 KB

english, 2017

49

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Khan, Arif O., Becirovic, Elvir, Betz, Christian, Neuhaus, Christine, Altmüller, Janine, Maria Riedmayr, Lisa, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J.

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 2.77 MB

english, 2017

50

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

Moosa, Shahida, Obregon, Maria Gabriela, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Fano, Virginia, Wollnik, Bernd

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 778 KB

english, 2016

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