Simons, Cas: search on Z-Library

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1

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

Simons, Cas, Dyment, David, van der Knaap, Marjo S, Wolf, Nicole I

Journal:

Year:

2018

Language:

english

File:

PDF, 142 KB

english, 2018

2

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

Backhouse, Brendan, Hanna, Chloe, Robevska, Gorjana, van den Bergen, Jocelyn, Pelosi, Emanuele, Simons, Cas, Koopman, Peter, Juniarto, A. Zulfa, Grover, Sonia, Faradz, Sultana, Sinclair, Andrew, Ayers

Journal:

Sexual Development

Year:

2018

Language:

english

File:

PDF, 93 KB

english, 2018

3

The rare earth element (REE) mineralisation potential of highly fractionated rhyolites: A potential low-grade, bulk tonnage source of critical metals

Jowitt, Simon M., Medlin, Chris C., Cas, Ray A.F.

Journal:

Ore Geology Reviews

Year:

2017

Language:

english

File:

PDF, 856 KB

english, 2017

4

Position Control with Parameter Adaptation for a Nano-Robotic Cell

Škorc, Gregor, Čas, Jure, Brezovnik, Simon, Šafarič, Riko

Journal:

Strojniški vestnik – Journal of Mechanical Engineering

Year:

2011

Language:

english

File:

PDF, 5.21 MB

english, 2011

5

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy

Pizzino, Amy, Whitehead, Matthew, Sabet Rasekh, Parisa, Murphy, Jennifer, Helman, Guy, Bloom, Miriam, Evans, Sarah H., Murnick, John G., Conry, Joan, Taft, Ryan J., Simons, Cas, Vanderver, Adeline, Ad

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 805 KB

english, 2018

6

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J., Whitworth, Alexander J.

Journal:

Year:

2014

Language:

english

File:

PDF, 431 KB

english, 2014

7

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 648 KB

english, 2014

8

Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Simons, Cas, Rash, Lachlan D, Crawford, Joanna, Ma, Linlin, Cristofori-Armstrong, Ben, Miller, David, Ru, Kelin, Baillie, Gregory J, Alanay, Yasemin, Jacquinet, Adeline, Debray, François-Guillaume, Ve

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 103 KB

english, 2015

9

Corrigendum: Tiny RNAs associated with transcription start sites in animals

Cloonan, Nicole, Simons, Cas, Taft, Ryan J, Glazov, Evgeny A, Stephen, Stuart, Faulkner, Geoffrey J, Lassmann, Timo, Forrest, Alistair R R, Grimmond, Sean M, Schroder, Kate

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

10

Beta Blockers in Heart Failure: Issues in Management of Individual Patients

Marco Metra, Savina Nodari, Antonio D'Aloia, Elena Cagnazzi, Claudia Fiorina, Simone Verde, Livio Dei Cas

Journal:

Heart Failure Reviews

Year:

1999

Language:

english

File:

PDF, 138 KB

english, 1999

11

Utilising polymorphisms to achieve allele-specific genome editing in zebrafish

Capon, Samuel J., Baillie, Gregory J., Bower, Neil I., da Silva, Jason A., Paterson, Scott, Hogan, Benjamin M., Simons, Cas, Smith, Kelly A.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.60 MB

english, 2016

12

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joann

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 644 KB

english, 2013

13

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Crawford, Joanna, Bower, Neil I., Hogan, Benjamin M., Taft, Ryan J., Gabbett, Michael T., McGaughran, Julie, Simons, Cas

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 563 KB

english, 2016

14

Crystallization in Lead Tungsten Fluorophosphate Glasses

Nardi, Rachel Prado Russo Delorenzo, Braz, Celso Eduardo, Pereira, Camila, Freschi, Carolina Dakuzaku, Ferrari, Jefferson Luiz, Stucchi de Camargo, Andrea Simone, Eckert, Hellmut, Cassanjes, Fabia Cas

Journal:

Materials Research

Year:

2015

Language:

english

File:

PDF, 1.51 MB

english, 2015

15

[IEEE 2010 IEEE 23rd Computer Security Foundations Symposium (CSF) - Edinburgh, United Kingdom (2010.07.17-2010.07.19)] 2010 23rd IEEE Computer Security Foundations Symposium - Strong Invariants for the Efficient Construction of Machine-Checked Protocol Security Proofs

Meier, Simon, Cremers, Cas, Basin, David

Year:

2010

Language:

english

File:

PDF, 346 KB

english, 2010

16

Lymphatic and facial defects 1 regulates expansion of the lymphatic endothelial cell lineage upon its emergence from the cardinal vein

Koltowska, Kaska, Paterson, Scott, Lagendijk, Anne Karine, Chen, Huijun, Baillie, Gregory, Leshchiner, Ignat, Geossling, Wolfram, Smith, Kelly, Simons, Cas, Schulte-Merker, Stefan, Hogan, Ben

Journal:

Mechanisms of Development

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

17

Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans

Taft, Ryan J, Simons, Cas, Nahkuri, Satu, Oey, Harald, Korbie, Darren J, Mercer, Timothy R, Holst, Jeff, Ritchie, William, Wong, Justin J-L, Rasko, John EJ

Journal:

Nature Structural and Molecular Biology

Year:

2010

Language:

english

File:

PDF, 898 KB

english, 2010

18

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M., Taft, Ryan J.

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 906 KB

english, 2014

19

Whole exome sequencing in patients with white matter abnormalities

Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Geneviève, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani,

Journal:

Annals of Neurology

Year:

2016

Language:

english

File:

PDF, 247 KB

english, 2016

20

Obituary

Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M., Taft, Ryan J.

Journal:

Year:

1961

Language:

english

File:

PDF, 173 KB

english, 1961

21

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, Imen, Aiello, Chiara, Simons, Cas, Stone, Robert Thompson, Niceta, Marcello, Elmaleh, Monique, Abuawad, Mohammad, Doummar, Diane, Bruselles, Alessandro, Wolf, Nicole I., Travaglini, Lorena, Bo

Journal:

Year:

2017

Language:

english

File:

PDF, 416 KB

english, 2017

22

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Conant, Alexander, Curiel, Julian, Pizzino, Amy, Sabetrasekh, Parisa, Murphy, Jennifer, Bloom, Miriam, Evans, Sarah H., Helman, Guy, Taft, Ryan J., Simons, Cas, Whitehead, Matthew T., Moore, Steven A.

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

23

A mutation in the methionine aminopeptidase gene provides phage resistance in Streptococcus thermophilus

Labrie, Simon J., Mosterd, Cas, Loignon, Stéphanie, Dupuis, Marie-Ève, Desjardins, Philippe, Rousseau, Geneviève M., Tremblay, Denise M., Romero, Dennis A., Horvath, Philippe, Fremaux, Christophe, Moi

Journal:

Scientific Reports

Year:

2019

File:

PDF, 1.47 MB

2019

24

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Parikh, Sumit, Bernard, Geneviève, Leventer, Richard J., van der Knaap, Marjo S., van Hove, Johan, Pizzino, Amy, McNeill, Nathan H., Helman, Guy, Simons, Cas, Schmidt, Johanna L., Rizzo, William B., P

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.13 MB

english, 2015

25

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover

De Angelis, Jessica E., Lagendijk, Anne K., Chen, Huijun, Tromp, Alisha, Bower, Neil I., Tunny, Kathryn A., Brooks, Andrew J., Bakkers, Jeroen, Francois, Mathias, Yap, Alpha S., Simons, Cas, Wicking,

Journal:

Developmental Cell

Year:

2017

Language:

english

File:

PDF, 6.47 MB

english, 2017

26

Prognostic impact of regression in patients with primary cutaneous melanoma >1 mm in thickness

Ribero, Simone, Galli, Francesca, Osella-Abate, Simona, Bertero, Luca, Cattaneo, Laura, Merelli, Barbara, Tondini, Carlo, Ghilardi, Laura, De Giorgi, Vincenzo, Occelli, Marcella, Quaglino, Pietro, Cas

Journal:

Journal of the American Academy of Dermatology

Year:

2018

Language:

english

File:

PDF, 438 KB

english, 2018

27

Gene sequences from New Zealand's extinct huia

Tebbutt, Scott J., Simons, Cas

Journal:

Journal of the Royal Society of New Zealand

Year:

2002

Language:

english

File:

PDF, 1.84 MB

english, 2002

28

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 352 KB

english, 2018

29

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants

Hudson, Rebecca, Patel, Chirag, Hawley, Carmel M., O’Shea, Stacey, Snelling, Paul, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Francis, Leo, Simons, Cas, Mallett, Andrew

Journal:

American Journal of Kidney Diseases

Year:

2019

File:

PDF, 1.55 MB

2019

30

mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish

Koltowska, Katarzyna, Paterson, Scott, Bower, Neil I., Baillie, Gregory J., Lagendijk, Anne K., Astin, Jonathan W., Chen, Huijun, Francois, Mathias, Crosier, Philip S., Taft, Ryan J., Simons, Cas, Smi

Journal:

Genes & Development

Year:

2015

Language:

english

File:

PDF, 709 KB

english, 2015

31

Effect of 5'UTR introns on gene expression inArabidopsis thaliana

Betty YW Chung, Cas Simons, Andrew E Firth, Chris M Brown, Roger P Hellens

Journal:

Year:

2006

Language:

english

File:

PDF, 554 KB

english, 2006

32

MAFB modulates the maturation of lymphatic vascular networks in mice

RondonâGaleano, Maria, Skoczylas, Renae, Bower, Neil I., Simons, Cas, Gordon, Emma, Francois, Mathias, Koltowska, Katarzyna, Hogan, Benjamin M.

Journal:

Developmental Dynamics

Year:

2020

File:

PDF, 3.78 MB

2020

33

Maintenance of transposon-free regions throughout vertebrate evolution

Cas Simons, Igor V Makunin, Michael Pheasant, John S Mattick

Journal:

Year:

2007

Language:

english

File:

PDF, 427 KB

english, 2007

34

Use of Fluorescence Resonance Energy Transfer Hybridization Probes To Evaluate Quantitative Real-Time PCR for Diagnosis of Ocular Toxoplasmosis

Simon, A., Labalette, P., Ordinaire, I., Frealle, E., Dei-Cas, E., Camus, D., Delhaes, L.

Journal:

Journal of Clinical Microbiology

Year:

2004

Language:

english

File:

PDF, 70 KB

english, 2004

35

P0649 : Characterization of HBsAg loss in patients with chronic hepatitis B (CHB) treated with nucleos/tide analogs (NUCs): A retrospective multicenter study (HEBESAS)

Suárez, E., Simón, M.A., Buti, M., Prieto, M., Pascasio, J.M., Rodríguez, M., Casanovas, T., Crespo, J., Arenas, J., Gómez, R., Figueruela, B., Diago, M., Morillas, R., Zozaya, J.M., Calleja, J.L, Cas

Journal:

Journal of Hepatology

Year:

2015

Language:

english

File:

PDF, 107 KB

english, 2015

36

Evolution, biogenesis and function of promoter-associated RNAs

Taft, Ryan J., Kaplan, Craig D., Simons, Cas, Mattick, John S.

Journal:

Year:

2009

Language:

english

File:

PDF, 1.16 MB

english, 2009

37

Localised Collagen2a1 secretion supports lymphatic endothelial cell migration in the zebrafish embryo

Chaudhury, Smrita, Okuda, Kazuhide S., Koltowska, Katarzyna, Lagendijk, Anne K., Paterson, Scott, Baillie, Gregory J., Simons, Cas, Smith, Kelly A., Hogan, Benjamin M., Bower, Neil I.

Journal:

Development (The Company of Biologists)

Year:

2020

File:

PDF, 5.70 MB

2020

38

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, J

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

39

Orthologous MicroRNA Genes Are Located in Cancer-Associated Genomic Regions in Human and Mouse

Makunin, Igor V., Pheasant, Michael, Simons, Cas, Mattick, John S., Arendt, Christopher

Journal:

Year:

2007

Language:

english

File:

PDF, 167 KB

english, 2007

40

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine, Simons, Cas

Journal:

Kidney Medicine

Year:

2019

Language:

english

File:

PDF, 668 KB

english, 2019

41

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

Helman, Guy, Viaene, Angela N., Takanohashi, Asako, Breur, Marjolein, Berger, Rebecca, Woidill, Sarah, Cottrell, John R., Schiffmann, Raphael, Crow, Yanick J., Simons, Cas, Bugiani, Marianna, Vanderve

Journal:

Journal of Child Neurology

Year:

2020

File:

PDF, 838 KB

2020

42

The effect of longitudinal cracks and interface adhesion on buckling of columns: analytical solution

Čas, Bojan, Bratina, Sebastjan, Planinc, Igor, Schnabl, Simon

Journal:

Archive of Applied Mechanics

Year:

2019

Language:

english

File:

PDF, 1.83 MB

english, 2019

43

Tiny RNAs associated with transcription start sites in animals

Taft, Ryan J, Glazov, Evgeny A, Cloonan, Nicole, Simons, Cas, Stephen, Stuart, Faulkner, Geoffrey J, Lassmann, Timo, Forrest, Alistair R R, Grimmond, Sean M, Schroder, Kate

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 392 KB

english, 2009

44

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Simons, Cas, Rash, Lachlan D, Crawford, Joanna, Ma, Linlin, Cristofori-Armstrong, Ben, Miller, David, Ru, Kelin, Baillie, Gregory J, Alanay, Yasemin, Jacquinet, Adeline, Debray, François-Guillaume, Ve

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.64 MB

english, 2014

45

RMND1 related Leukoencephalopathy with temporal lobe cysts and hearing loss – another Mendelian mimicker of congenital CMV infection

Ulrick, Nicole, Goldstein, Amy, Simons, Cas, Taft, Ryan J., Helman, Guy, Pizzino, Amy, Bloom, M., Vogt, Julie, Pysden, Karen, Diodato, Daria, Martinelli, Diego, Monavari, Ahmad, Buhas, Daniela, van Ka

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 2.21 MB

english, 2016

46

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover

De Angelis, Jessica E., Lagendijk, Anne K., Chen, Huijun, Tromp, Alisha, Bower, Neil I., Tunny, Kathryn A., Brooks, Andrew J., Bakkers, Jeroen, Francois, Mathias, Yap, Alpha S., Simons, Cas, Wicking,

Journal:

Developmental Cell

Year:

2017

Language:

english

File:

PDF, 299 KB

english, 2017

47

Myosin Vb is required for correct trafficking of N-cadherin and cardiac chamber ballooning

Grassini, Daniela R., Da Silva, Jason, Hall, Thomas E., Baillie, Gregory J., Simons, Cas, Parton, Robert G., Hogan, Benjamin M., Smith, Kelly A.

Journal:

Developmental Dynamics

Year:

2019

Language:

english

File:

PDF, 5.58 MB

english, 2019

48

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

Helman, Guy, Caldovic, Ljubica, Whitehead, Matthew T., Simons, Cas, Brockmann, Knut, Edvardson, Simon, Bai, Renkui, Moroni, Isabella, Taylor, J. Michael, Haren, Keith Van, Taft, Ryan J., Vanderver, Ad

Journal:

Annals of Neurology

Year:

2016

Language:

english

File:

PDF, 348 KB

english, 2016

49

Memantine effects on behaviour in moderately severe to severe Alzheimer’s disease: a post-marketing surveillance study

Francesca Clerici, Nicola Vanacore, Antonietta Elia, Stefania Spila-Alegiani, Simone Pomati, Roberto Da Cas, Roberto Raschetti, Claudio Mariani, The Memantine Lombardy Study Group

Journal:

Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

50

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Simons, Cas, Wolf, Nicole I., McNeil, Nathan, Caldovic, Ljubica, Devaney, Joseph M., Takanohashi, Asako, Crawford, Joanna, Ru, Kelin, Grimmond, Sean M., Miller, David, Tonduti, Davide, Schmidt, Johann

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 572 KB

english, 2013

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