Jozef Gécz: search on Z-Library

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1

Cerebral palsy: causes, pathways, and the role of genetic variants

MacLennan, Alastair H., Thompson, Suzanna C., Gecz, Jozef

Journal:

American Journal of Obstetrics and Gynecology

Year:

2015

Language:

english

File:

PDF, 4.83 MB

english, 2015

2

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Fie

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.55 MB

english, 2018

3

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations

Orit Reish, Tod Fullston, Miriam Regev, Eli Heyman, Jozef Gecz

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 201 KB

english, 2009

4

Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay

Lynch, Sally Ann, Nguyen, Lam Son, Ng, Li Yen, Waldron, Mary, McDonald, Denise, Gecz, Jozef

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 630 KB

english, 2012

5

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Gillian Turner, Michael Partington, Bronwyn Kerr, Marie Mangelsdorf, Jozef Gecz

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 257 KB

english, 2002

6

Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability

Francesca, Mattioli, Bertrand, Isidor, Omar, Abdul-Rahman, Gunter, Andrew, Lijia, Huang, Kumar, Raman, Chandree, Beaulieu, Gecz, Jozef, Micheil, Innes, Jean-Louis, Mandel, Amélie, Piton

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 2.72 MB

english, 2018

7

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Niemi, Mari E. K., Martin, Hilary C., Rice, Daniel L., Gallone, Giuseppe, Gordon, Scott, Kelemen, Martin, McAloney, Kerrie, McRae, Jeremy, Radford, Elizabeth J., Yu, Sui, Gecz, Jozef, Martin, Nicholas

Journal:

Year:

2018

Language:

english

File:

PDF, 4.44 MB

english, 2018

8

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Pham, Ryan, Mol, Ben W, Gecz, Jozef, MacLennan, Alastair H, MacLennan, Suzanna C, Corbett, Mark A, Eyk, Clare L, Webber, Dani L, Palmer, Lyle J, Berry, Jesia G

Journal:

Developmental Medicine & Child Neurology

Year:

2020

File:

PDF, 247 KB

2020

9

Spectrum of Neurological Phenotypes Caused by ARX Mutations

Petter Strømme, Jozef Gécz

Journal:

Acta Neurologica Scandinavica

Year:

2003

Language:

english

File:

PDF, 136 KB

english, 2003

10

A UPF3-mediated regulatory switch that maintains RNA surveillance

Chan, Wai-Kin, Bhalla, Angela D, Le Hir, Hervé, Nguyen, Lam Son, Huang, Lulu, Gécz, Jozef, Wilkinson, Miles F

Journal:

Nature Structural and Molecular Biology

Year:

2009

Language:

english

File:

PDF, 458 KB

english, 2009

11

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson–Forssman–Lehmann Syndrome of intellectual disability and obesity

Anne K. Voss, Robin Gamble, Caitlin Collin, Cheryl Shoubridge, Mark Corbett, Jozef Gécz, Tim Thomas

Journal:

Gene Expression Patterns

Year:

2007

Language:

english

File:

PDF, 7.30 MB

english, 2007

12

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Petter Strømme, Marie E Mangelsdorf, Ingrid E Scheffer, Jozef Gécz

Journal:

Brain and Development

Year:

2002

Language:

english

File:

PDF, 59 KB

english, 2002

13

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Ha, Thuong T., Sadleir, Lynette G., Mandelstam, Simone A., Paterson, Sarah J., Scheffer, Ingrid E., Gecz, Jozef, Corbett, Mark A.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 766 KB

english, 2016

14

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

Zhu, Fuxi, Wang, Fengsong, Yang, Xiaoyu, Zhang, Jingjing, Wu, Huan, Zhang, Zhou, Zhang, Zhiguo, He, Xiaojin, Zhou, Ping, Wei, Zhaolian, Gecz, Jozef, Cao, Yunxia

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.94 MB

english, 2016

15

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Rigbye, Kristin A., van Hasselt, Peter M., Burgess, Rosemary, Damiano, John A., Mullen, Saul A., Petrovski, Slavé, Puranam, Ram S., van Gassen, Koen L.I., Gecz, Jozef, Scheffer, Ingrid E., McNamara, J

Journal:

Epilepsy Research

Year:

2016

Language:

english

File:

PDF, 265 KB

english, 2016

16

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

Zhu, Fuxi, Wang, Fengsong, Yang, Xiaoyu, Zhang, Jingjing, Wu, Huan, Zhang, Zhou, Zhang, Zhiguo, He, Xiaojin, Zhou, Ping, Wei, Zhaolian, Gecz, Jozef, Cao, Yunxia

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 54 KB

english, 2016

17

Genetics of the epilepsies: Genetic twists in the channels and other tales

Ingrid E. Scheffer, Yue-Hua Zhang, Jozef Gecz, Leanne Dibbens

Journal:

Year:

2010

Language:

english

File:

PDF, 72 KB

english, 2010

18

The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)

Gécz, Jozef, Turner, Gillian, Nelson, John, Partington, Michael

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 123 KB

english, 2006

19

Identification of an IGSF1 -specific deletion in a five generation pedigree with X-linked Central Hypothyroidism without macroorchidism

Hughes, James N, Aubert, Matthew, Heatlie, Jessica, Gardner, Alison, Gecz, Jozef, Morgan, Thomas, Belsky, Joseph, Thomas, Paul Q

Journal:

Clinical Endocrinology

Year:

2016

Language:

english

File:

PDF, 256 KB

english, 2016

20

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

Garg, Paras, Jadhav, Bharati, Rodriguez, Oscar L., Patel, Nihir, Martin-Trujillo, Alejandro, Jain, Miten, Metsu, Sofie, Olsen, Hugh, Paten, Benedict, Ritz, Beate, Kooy, R. Frank, Gecz, Jozef, Sharp, A

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 3.31 MB

2020

21

Identification of a mutation in theXNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

Villard, Laurent, Font�s, Michel, Ad�s, Lesley C., Gecz, Jozef

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 163 KB

english, 2000

22

The genetic basis of cerebral palsy

Fahey, Michael C, Maclennan, Alastair H, Kretzschmar, Doris, Gecz, Jozef, Kruer, Michael C

Journal:

Developmental Medicine & Child Neurology

Year:

2017

Language:

english

File:

PDF, 259 KB

english, 2017

23

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)

Pham, Duyen H., Tan, Chuan C., Homan, Claire C., Kolc, Kristy L., Corbett, Mark A., McAninch, Dale, Fox, Archa H., Thomas, Paul Q., Kumar, Raman, Gecz, Jozef

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 798 KB

english, 2017

24

âBig issuesâ in neurodevelopment for children and adults with congenital heart disease

Verrall, Charlotte E, Blue, Gillian M, Loughran-Fowlds, Alison, Kasparian, Nadine, Gecz, Jozef, Walker, Karen, Dunwoodie, Sally L, Cordina, Rachael, Sholler, Gary, Badawi, Nadia, Winlaw, David

Journal:

Year:

2019

File:

PDF, 395 KB

2019

25

A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability

Lingli Huang, Gemma Poke, Jozef Gecz, Kate Gibson

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 307 KB

english, 2012

26

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 211 KB

english, 2012

27

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

Shoubridge, Cheryl, Walikonis, Randall S., Gécz, Jozef, Harvey, Robert J.

Journal:

Year:

2010

Language:

english

File:

PDF, 2.58 MB

english, 2010

28

Robust imaging and gene delivery to study human lymphoblastoid cell lines

Jolly, Lachlan A., Sun, Ying, Carroll, Renée, Homan, Claire C., Gecz, Jozef

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.56 MB

english, 2018

29

Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: Mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27

Karen M. Lower, Jozef Gecz

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 83 KB

english, 2001

30

Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay

Ivone G. Bruno, Rachid Karam, Lulu Huang, Anjana Bhardwaj, Chih H. Lou, Eleen Y. Shum, Hye-Won Song, Mark A. Corbett, Wesley D. Gifford, Jozef Gecz, Samuel L. Pfaff, Miles F. Wilkinson

Journal:

Year:

2011

Language:

english

File:

PDF, 1.38 MB

english, 2011

31

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.18 MB

english, 2014

32

La FAM fatale: USP9X in development and disease

Murtaza, Mariyam, Jolly, Lachlan A., Gecz, Jozef, Wood, Stephen A.

Journal:

Cellular and Molecular Life Sciences

Year:

2015

Language:

english

File:

PDF, 1.49 MB

english, 2015

33

“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!

John C. Mulley, Sarah E. Heron, Robyn H. Wallace, Jozef Gecz, Leanne M. Dibbens

Journal:

Year:

2011

Language:

english

File:

PDF, 87 KB

english, 2011

34

XLMR genes: update 2007

Chiurazzi, Pietro, Schwartz, Charles E, Gecz, Jozef, Neri, Giovanni

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 235 KB

english, 2008

35

Gene Structure and Expression Study of the SEDL Gene for Spondyloepiphyseal Dysplasia Tarda

Jozef Gécz, Marie A. Hillman, Agi K. Gedeon, Timothy C. Cox, Elizabeth Baker, John C. Mulley

Journal:

Year:

2000

Language:

english

File:

PDF, 284 KB

english, 2000

36

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Florence Molinari, François Foulquier, Patrick S. Tarpey, Willy Morelle, Sarah Boissel, Jon Teague, Sarah Edkins, P. Andrew Futreal, Michael R. Stratton, Gillian Turner, Gert Matthijs, Jozef Gecz, Arn

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.15 MB

english, 2008

37

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat

Cíntia Barros Santos-Rebouças, Cláudia Bueno Abdalla, Tod Fullston, Mário Campos Jr., Márcia Mattos Gonçalves Pimentel, Jozef Gécz

Journal:

Neuroscience Letters

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

38

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

Moey, Ching, Hinze, Susan J, Brueton, Louise, Morton, Jenny, McMullan, Dominic J, Kamien, Benjamin, Barnett, Christopher P, Brunetti-Pierri, Nicola, Nicholl, Jillian, Gecz, Jozef, Shoubridge, Cheryl

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 821 KB

english, 2015

39

Molecular genetics of X-linked mental retardation: a complex picture emerging

Lower, Karen, Mangelsdorf, Marie, Gecz, Jozef

Journal:

Expert Review of Molecular Diagnostics

Year:

2001

Language:

english

File:

PDF, 95 KB

english, 2001

40

Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

Elena Colombo, Rossella Galli, Giulio Cossu, Jozef Gécz, Vania Broccoli

Journal:

Developmental Dynamics

Year:

2004

Language:

english

File:

PDF, 1.14 MB

english, 2004

41

Glutamate receptors and learning and memory

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 221 KB

english, 2010

42

NHS-A isoform of the NHS gene is a novel interactor of ZO-1

Shiwani Sharma, Katrina SY Koh, Caitlin Collin, Alpana Dave, Amy McMellon, Yuki Sugiyama, John W. McAvoy, Anne K. Voss, Jozef Gécz, Jamie E. Craig

Journal:

Experimental Cell Research

Year:

2009

Language:

english

File:

PDF, 3.19 MB

english, 2009

43

Gene Structure and Subcellular Localization of FMR2, a Member of a New Family of Putative Transcription Activators

Jozef Gecz, Susie Bielby, Grant R. Sutherland, John C. Mulley

Journal:

Year:

1997

Language:

english

File:

PDF, 562 KB

english, 1997

44

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

Rachel A. Peat, Jozef Gécz, Justin R. Fallon, Patrick S. Tarpey, Raffaella Smith, Andrew Futreal, Michael R. Stratton, Shireen R. Lamandé, Nan Yang, Kathryn N. North

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 94 KB

english, 2008

45

Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not

Jozef Gécz, Marie A. Shaw, Jennifer R. Bellon, Miguel de Barros Lopes

Journal:

Year:

2003

Language:

english

File:

PDF, 288 KB

english, 2003

46

FOXP1 mutations cause intellectual disability and a recognizable phenotype

Le Fevre, Anna K., Taylor, Sharelle, Malek, Neva H., Horn, Denise, Carr, Christopher W., Abdul-Rahman, Omar A., O'Donnell, Sherindan, Burgess, Trent, Shaw, Marie, Gecz, Jozef, Bain, Nicole, Fagan, Ker

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 798 KB

english, 2013

47

Identification and Characterization of a Missense Mutation in the O-GlcNAc Transferase Gene that Segregates with X-Linked Intellectual Disability

Vaidyanathan, Krithika, Niranjan, Tejasvi, Selvan, Nithya, Teo, Chin Fen, May, Melanie, Patel, Sneha, Weatherly, Brent, Skinner, Cindy, Opitz, John, Carey, John, Viskochil, David, Gecz, Jozef, Shaw, M

Journal:

Journal of Biological Chemistry

Year:

2017

Language:

english

File:

PDF, 4.62 MB

english, 2017

48

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism

van Eyk, Clare L., Corbett, Mark A., Gardner, Alison, van Bon, Bregje W., Broadbent, Jessica L., Harper, Kelly, MacLennan, Alastair H., Gecz, Jozef

Journal:

Translational Psychiatry

Year:

2018

Language:

english

File:

PDF, 1.66 MB

english, 2018

49

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Pravata, Veronica M., OmelkovÃ¡, Michaela, Stavridis, Marios P., Desbiens, Chelsea M., Stephen, Hannah M., Lefeber, Dirk J., Gecz, Jozef, Gundogdu, Mehmet, Ãunap, Katrin, Joss, Shelagh, Schwartz, Cha

Journal:

European Journal of Human Genetics

Year:

2020

Language:

english

File:

PDF, 1.33 MB

english, 2020

50

Mutation detection inFGFR2craniosynostosis syndromes

G. E. Hollway, Graeme K. Suthers, Eric A. Haan, Elizabeth Thompson, David J. David, Jozef Gecz, John C. Mulley

Journal:

Year:

1997

Language:

english

File:

PDF, 145 KB

english, 1997

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