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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

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

4

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

5

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

6

New insights into Brunner syndrome and potential for targeted therapy

Palmer, E.E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., Cheung, N.W., Champion, B., Hu, H., Haas, S.A., Kalscheuer, V.M., Gecz, J., Field, M.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

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

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

9

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

10

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

11

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

12

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

Agi K. Gedeon, John Nelson, Jozef Gécz, John C. Mulley

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 436 KB

english, 2003

13

Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia

Marie A. Shaw, Barbara McDonough, Arthur B. Hodess, Donald H. Harter, Jozef Gécz

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 90 KB

english, 2004

14

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family

Kathryn P. Burdon, Shane R. Durkin, Mary Burke, Matthew Edwards, John Pater, Tania Straga, Jozef Gecz, Jan E. Liebelt, Jamie E. Craig

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 373 KB

english, 2009

15

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene

Michelle K. Demos, Tod Fullston, Michael W. Partington, Jozef Gécz, William T. Gibson

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 188 KB

english, 2009

16

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia

Tod Fullston, Bronte Gabb, David Callen, Reinhard Ullmann, Erica Woollatt, Sharon Bain, Hilger H. Ropers, Matt Cooper, David Chandler, Kim Carter, Assen Jablensky, Luba Kalaydjieva, Jozef Gecz

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

17

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

18

ARX spectrum disorders: making inroads into the molecular pathology

Cheryl Shoubridge, Tod Fullston, Jozef Gécz

Journal:

Year:

2010

Language:

english

File:

PDF, 397 KB

english, 2010

19

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

MA Shaw, N Brunetti-Pierri, L Kádasi, V Kovácová, L Van Maldergem, D De Brasi, M Salerno, J Gécz

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 733 KB

english, 2003

20

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

21

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

Journal:

Annals of Human Genetics

Year:

2000

Language:

english

File:

PDF, 526 KB

english, 2000

22

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz, Daniel Christophe

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 506 KB

english, 2004

23

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson, Charles E Schwartz

Journal:

BMC Medical Genetics

Year:

2005

Language:

english

File:

PDF, 548 KB

english, 2005

24

Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients

L. Kádasi, J. Gécz, J. Matúšek, T. Krivušová, V. Ferák, M. Devoto, J. Hruškovič, G. Romeo

Journal:

Year:

1992

Language:

english

File:

PDF, 205 KB

english, 1992

25

Disruptions of the novelKIAA1202gene are associated with X-linked mental retardation

Olivier Hagens, Aline Dubos, Fatima Abidi, Gotthold Barbi, Laura Van Zutven, Maria Hoeltzenbein, Niels Tommerup, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Hans van Bokhoven, Jozef Gécz, Hélène

Journal:

Year:

2006

Language:

english

File:

PDF, 591 KB

english, 2006

26

Loss ofSLC38A5andFTSJ1at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

Guy Froyen, Marijke Bauters, Jackie Boyle, Hilde Van Esch, Karen Govaerts, Hans van Bokhoven, Hans-Hilger Ropers, Claude Moraine, Jamel Chelly, Jean-Pierre Fryns, Peter Marynen, Jozef Gecz, Gillian Tu

Journal:

Year:

2007

Language:

english

File:

PDF, 652 KB

english, 2007

27

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

28

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

J. Gecz, Elizabeth Baker, Andrew Donnelly, Jeffrey E. Ming, Donna M. McDonald-McGinn, Nancy B. Spinner, Elaine H. Zackai, Grant R. Sutherland, John C. Mulley

Journal:

Year:

1999

Language:

english

File:

PDF, 155 KB

english, 1999

29

Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator

M. A. Hillman, J. Gecz

Journal:

Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 229 KB

english, 2001

30

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

G Turner, KM Lower, SM White, M Delatycki, AK Lampe, M Wright, J Clayton- Smith, B Kerr, S Schelley, HE Hoyme, BBA De Vries, T Kleefstra, M Grompe, B Cox, J Gecz, M Partington

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.42 MB

english, 2004

31

Three new families with X-linked mental retardation caused by the 428–451dup(24bp) mutation in ARX

MW Partington, G Turner, J Boyle, J Gécz

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 749 KB

english, 2004

32

Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation

G Turner, J Boyle, MW Partington, B Kerr, FL Raymond, J Gécz, Members of the NSW GOLD team

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 90 KB

english, 2008

33

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

T Fullston, M Finnis, A Hackett, B Hodgson, L Brueton, G Baynam, A Norman, O Reish, C Shoubridge, J Gecz

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 9.56 MB

english, 2011

34

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

35

“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

36

10.1038/11976

Gécz, Jozef, Gedeon, Ági K., Colley, Alison, Jamieson, Robyn, Thompson, Elizabeth M., Rogers, John, Sillence, David, Tiller, George E., Mulley, John C.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 629 KB

english, 1999

37

10.1038/8719

Hanauer, André, Merienne, Karine, Jacquot, Sylvie, Pannetier, Solange, Zeniou, Maria, Bankier, Agnes, Gecz, Jozef, Mandel, Jean-Louis, Mulley, John, Sassone-Corsi, Paolo

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 230 KB

english, 1999

38

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

Finnis, Merran, Gecz, Jozef, Morton, Jenny, Fullston, Tod, Brueton, Louise, Willis, Tracey, Philip, Sunny, MacPherson, Lesley

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 525 KB

english, 2009

39

XNP mutation in a large family with Juberg-Marsidi syndrome

Villard, Laurent, Gecz, Josef, Mattéi, Jean François, Fontés, Michel, Saugier-Veber, Pascale, Munnich, Arnold, Lyonnet, Stanislas

Journal:

Nature Genetics

Year:

1996

File:

PDF, 239 KB

1996

40

Identification of the gene FMR2, associated with FRAXE mental retardation

Gecz, Jozef, Gedeon, Agi K., Sutherland, Grant R., Mulley, John C.

Journal:

Nature Genetics

Year:

1996

File:

PDF, 508 KB

1996

41

Glutamate receptors and learning and memory

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 221 KB

english, 2010

42

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Kalscheuer, Vera M, Freude, Kristine, Musante, Luciana, Jensen, Lars R, Yntema, Helger G, Gécz, Jozef, Sefiani, Abdelaziz, Hoffmann, Kirsten, Moser, Bettina, Haas, Stefan

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 460 KB

english, 2003

43

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

44

Characterisation and expression of a large, 13.7 kb FMR2 isoform.

Gecz, Jozef, Mulley, John C

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 244 KB

english, 1999

45

A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation

Shaw, Marie A, Chiurazzi, Pietro, Romain, Dennis R, Neri, Giovanni, Gécz, Jozef

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 350 KB

english, 2002

46

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

Savarirayan, Ravi, Thompson, Elizabeth, Gécz, Jozef

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 82 KB

english, 2003

47

Early onset seizures and Rett-like features associated with mutations in CDKL5

Evans, Julie C, Archer, Hayley L, Colley, James P, Ravn, Kirstine, Nielsen, Jytte Bieber, Kerr, Alison, Williams, Elizabeth, Christodoulou, John, Gécz, Jozef, Jardine, Philip E

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 218 KB

english, 2005

48

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

49

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

Chen, Wei, Jensen, Lars R, Gecz, Jozef, Fryns, Jean-Pierre, Moraine, Claude, de Brouwer, Arjan, Chelly, Jamel, Moser, Bettina, Ropers, H Hilger, Kuss, Andreas W

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 97 KB

english, 2006

50

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

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