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Jozef Gecz
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10
Moraine, Claude
8
Ropers, Hans-Hilger
8
Mulley, John
8
Fryns, Jean-Pierre
7
Chelly, Jamel
5
Froyen, Guy
5
Turner, Gillian
5
Villard, Laurent
5
Van Esch, Hilde
4
van Bokhoven, Hans
4
Lower, Karen
4
Jensen, Lars Riff
4
Gedeon, Agi
3
Futreal, Andrew
3
Lossi, Anne-Marie
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Geonetwork of Jozef Gecz (preview)
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All Publications
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2008: Frints Suzanna Gerarda Maria; Lenzner Steffen; Bauters Mareike; Jensen Lars Riff; Van Esch Hilde; des Portes Vincent; Moog Ute; Macville Merryn Victor Erik; van Roozendaal Kees; Schrander-Stumpel Constance Theresia Rimbertha Maria; Tzschach Andreas; Marynen Peter; Fryns Jean-Pierre; Hamel Ben; van Bokhoven Hans; Chelly Jamel; Beldjord Chérif; Turner Gillian; Gecz Jozef; Moraine Claude; Raynaud Martine; Ropers Hans Hilger; Froyen Guy; Kuss Andreas Walter
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
European journal of human genetics : EJHG 2008;16(9):1029-37.
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2008: Jaeckle Santos Lane J; Xing Chao; Barnes Robert B; Ades Lesley C; Megarbane Andre; Vidal Christopher; Xuereb Angela; Tarpey Patrick S; Smith Raffaella; Khazab Mahmoud; Shoubridge Cheryl; Partington Michael; Futreal Andrew; Stratton Michael R; Gecz Jozef; Zinn Andrew R
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
Human genetics 2008;123(5):469-76.
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2008: Molinari Florence; Foulquier François; Tarpey Patrick S; Morelle Willy; Boissel Sarah; Teague Jon; Edkins Sarah; Futreal P Andrew; Stratton Michael R; Turner Gillian; Matthijs Gert; Gecz Jozef; Munnich Arnold; Colleaux Laurence
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
American journal of human genetics 2008;82(5):1150-7.
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2008: Gilfillan Gregor D; Selmer Kaja K; Roxrud Ingrid; Smith Raffaella; Kyllerman Mårten; Eiklid Kristin; Kroken Mette; Mattingsdal Morten; Egeland Thore; Stenmark Harald; Sjøholm Hans; Server Andres; Samuelsson Lena; Christianson Arnold; Tarpey Patrick; Whibley Annabel; Stratton Michael R; Futreal P Andrew; Teague Jon; Edkins Sarah; Gecz Jozef; Turner Gillian; Raymond F Lucy; Schwartz Charles; Stevenson Roger E; Undlien Dag E; Strømme Petter
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
American journal of human genetics 2008;82(4):1003-10.
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2008: Scheffer Ingrid E; Turner Samantha J; Dibbens Leanne M; Bayly Marta A; Friend Kathryn; Hodgson Bree; Burrows Linda; Shaw Marie; Wei Chen; Ullmann Reinhard; Ropers Hans-Hilger; Szepetowski Pierre; Haan Eric; Mazarib Aziz; Afawi Zaid; Neufeld Miriam Y; Andrews P Ian; Wallace Geoffrey; Kivity Sara; Lev Dorit; Lerman-Sagie Tally; Derry Christopher P; Korczyn Amos D; Gecz Jozef; Mulley John C; Berkovic Samuel F
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Brain : a journal of neurology 2008;131(Pt 4):918-27.
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2008: Chiurazzi Pietro; Schwartz Charles E; Gecz Jozef; Neri Giovanni
XLMR genes: update 2007.
European journal of human genetics : EJHG 2008;16(4):422-34.
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2008: Craig Jamie E; Friend Kathryn L; Gecz Jozef; Rattray Kate M; Troski Mark; Mackey David A; Burdon Kathryn P
A novel locus for X-linked congenital cataract on Xq24.
Molecular vision 2008;14():721-6.
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2007: Wu Ye; Arai Amy C; Rumbaugh Gavin; Srivastava Anand K; Turner Gillian; Hayashi Takashi; Suzuki Erika; Jiang Yuwu; Zhang Lilei; Rodriguez Jayson; Boyle Jackie; Tarpey Patrick; Raymond F Lucy; Nevelsteen Joke; Froyen Guy; Stratton Mike; Futreal Andy; Gecz Jozef; Stevenson Roger; Schwartz Charles E; Valle David; Huganir Richard L; Wang Tao
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(46):18163-8.
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2007: Kousoulidou Ludmila; Parkel Sven; Zilina Olga; Palta Priit; Puusepp Helen; Remm Maido; Turner Gillian; Boyle Jackie; van Bokhoven Hans; de Brouwer Arjan; Van Esch Hilde; Froyen Guy; Ropers Hans-Hilger; Chelly Jamel; Moraine Claude; Gecz Jozef; Kurg Ants; Patsalis Philippos C
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
European journal of medical genetics 2007;50(6):399-410.
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2007: Schwartz Charles E; Tarpey Patrick S; Lubs Herbert A; Verloes Alain; May Melanie M; Risheg Hiba; Friez Michael J; Futreal P Andrew; Edkins Sarah; Teague Jon; Briault Sylvain; Skinner Cindy; Bauer-Carlin Astrid; Simensen Richard J; Joseph Sumy M; Jones Julie R; Gecz Josef; Stratton Michael R; Raymond F Lucy; Stevenson Roger E
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Journal of medical genetics 2007;44(7):472-7.
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2007: Froyen Guy; Bauters Marijke; Boyle Jackie; Van Esch Hilde; Govaerts Karen; van Bokhoven Hans; Ropers Hans-Hilger; Moraine Claude; Chelly Jamel; Fryns Jean-Pierre; Marynen Peter; Gecz Jozef; Turner Gillian
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
Human genetics 2007;121(5):539-47.
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2007: 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
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
European journal of human genetics : EJHG 2007;15(3):375-8.
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2007: Ali Asif; Christie Paul T; Grigorieva Irina V; Harding Brian; Van Esch Hilde; Ahmed S Faisal; Bitner-Glindzicz Maria; Blind Eberhard; Bloch Catherine; Christin Patricia; Clayton Peter; Gecz Jozef; Gilbert-Dussardier Brigitte; Guillen-Navarro Encarna; Hackett Anna; Halac Isil; Hendy Geoffrey N; Lalloo Fiona; Mache Christoph J; Mughal Zulf; Ong Albert C M; Rinat Choni; Shaw Nicholas; Smithson Sarah F; Tolmie John; Weill Jacques; Nesbit M Andrew; Thakker Rajesh V
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Human molecular genetics 2007;16(3):265-75.
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2006: Lugtenberg Dorien; Yntema Helger G; Banning Martijn J G; Oudakker Astrid R; Firth Helen V; Willatt Lionel; Raynaud Martine; Kleefstra Tjitske; Fryns Jean-Pierre; Ropers Hans-Hilger; Chelly Jamel; Moraine Claude; Gecz Jozef; van Reeuwijk Jeroen; Nabuurs Sander B; de Vries Bert B A; Hamel Ben C J; de Brouwer Arjan P M; van Bokhoven Hans
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
American journal of human genetics 2006;78(2):265-78.
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2005: Van Esch Hilde; Bauters Marijke; Ignatius Jaakko; Jansen Mieke; Raynaud Martine; Hollanders Karen; Lugtenberg Dorien; Bienvenu Thierry; Jensen Lars Riff; Gecz Jozef; Moraine Claude; Marynen Peter; Fryns Jean-Pierre; Froyen Guy
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
American journal of human genetics 2005;77(3):442-53.
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2005: Stepp Monica L; Cason A Lauren; Finnis Merran; Mangelsdorf Marie; Holinski-Feder Elke; Macgregor David; MacMillan Andrée; Holden Jeanette J A; Gecz Jozef; Stevenson Roger E; Schwartz Charles E
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.
BMC medical genetics 2005;6():16.
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2005: Jensen Lars Riff; Amende Marion; Gurok Ulf; Moser Bettina; Gimmel Verena; Tzschach Andreas; Janecke Andreas R; Tariverdian Gholamali; Chelly Jamel; Fryns Jean-Pierre; Van Esch Hilde; Kleefstra Tjitske; Hamel Ben; Moraine Claude; Gecz Jozef; Turner Gillian; Reinhardt Richard; Kalscheuer Vera M; Ropers Hans-Hilger; Lenzner Steffen
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics 2005;76(2):227-36.
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2004: Cantagrel V; Lossi A-M; Boulanger S; Depetris D; Mattei M-G; Gecz J; Schwartz C E; Van Maldergem L; Villard L
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
Journal of medical genetics 2004;41(10):736-42.
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2004: Christophe-Hobertus Christiane; Kooy Frank; Gecz Jozef; Abramowicz Marc J; Holinski-Feder Elke; Schwartz Charles; Christophe Daniel
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
BMC medical genetics 2004;5():22.
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2004: Turner G; Lower K M; White S M; Delatycki M; Lampe A K; Wright M; Smith J Clayton; Kerr B; Schelley S; Hoyme H E; De Vries B B A; Kleefstra T; Grompe M; Cox B; Gecz J; Partington M
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Clinical genetics 2004;65(3):226-32.
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2004: Lower K M; Kumar R; Woollatt E; Villard L; Gecz J; Sutherland G R; Callen D F
Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene?
Hormone research 2004;62(4):208-14.
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2003: Ropers Hans-Hilger; Hoeltzenbein Maria; Kalscheuer Vera; Yntema Helger; Hamel Ben; Fryns Jean-Pierre; Chelly Jamel; Partington Michael; Gecz Jozef; Moraine Claude
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends in genetics : TIG 2003;19(6):316-20.
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2002: Turner Gillian; Partington Michael; Kerr Bronwyn; Mangelsdorf Marie; Gecz Jozef
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
American journal of medical genetics 2002;112(4):405-11.
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2002: Scheffer Ingrid E; Wallace R H; Phillips F L; Hewson P; Reardon K; Parasivam G; Stromme P; Berkovic S F; Gecz J; Mulley J C
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
Neurology 2002;59(3):348-56.
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2002: Bienvenu Thierry; Poirier Karine; Friocourt Gaelle; Bahi Nadia; Beaumont Delphine; Fauchereau Fabien; Ben Jeema Lamia; Zemni Ramzi; Vinet Marie-Claude; Francis Fiona; Couvert Philippe; Gomot Marie; Moraine Claude; van Bokhoven Hans; Kalscheuer Vera; Frints Suzanne; Gecz Josef; Ohzaki Kanae; Chaabouni Habiba; Fryns Jean-Pierre; Desportes Vincent; Beldjord Cherif; Chelly Jamel
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
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2002: Lossi A M; Laugier-Anfossi F; Depetris D; Gecz J; Gedeon A; Kooy F; Schwartz C; Mattei M G; Croquette M F; Villard L
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.
Journal of medical genetics 2002;39(2):113-7.
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2001: Lower K; Mangelsdorf M; Gecz J
Molecular genetics of X-linked mental retardation: a complex picture emerging.
Expert review of molecular diagnostics 2001;1(2):220-5.
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2001: Gedeon A K; Tiller G E; Le Merrer M; Heuertz S; Tranebjaerg L; Chitayat D; Robertson S; Glass I A; Savarirayan R; Cole W G; Rimoin D L; Kousseff B G; Ohashi H; Zabel B; Munnich A; Gecz J; Mulley J C
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics 2001;68(6):1386-97.
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2001: Tiller G E; Hannig V L; Dozier D; Carrel L; Trevarthen K C; Wilcox W R; Mundlos S; Haines J L; Gedeon A K; Gecz J
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics 2001;68(6):1398-407.
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2001: Lower K M; Gecz J
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.
American journal of medical genetics 2001;100(1):43-8.
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2001: Hillman M A; Gecz J
Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.
Journal of human genetics 2001;46(5):251-9.
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2000: Gecz J
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.
Annals of human genetics 2000;64(Pt 2):95-106.
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2000: Villard L; Fontès M; Adès L C; Gecz J
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
American journal of medical genetics 2000;91(1):83-5.
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1999: Villard L; Briault S; Lossi A M; Paringaux C; Belougne J; Colleaux L; Pincus D R; Woollatt E; Lespinasse J; Munnich A; Moraine C; Fontès M; Gecz J
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.
Journal of medical genetics 1999;36(10):754-8.
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1999: Gecz J; Mulley J C
Characterisation and expression of a large, 13.7 kb FMR2 isoform.
European journal of human genetics : EJHG 1999;7(2):157-62.
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1999: Gecz J; Baker E; Donnelly A; Ming J E; McDonald-McGinn D M; Spinner N B; Zackai E H; Sutherland G R; Mulley J C
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.
Human genetics 1999;104(1):56-63.
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1997: Gecz J; Bielby S; Sutherland G R; Mulley J C
Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.
Genomics 1997;44(2):201-13.
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1997: Hollway G E; Suthers G K; Haan E A; Thompson E; David D J; Gecz J; Mulley J C
Mutation detection in FGFR2 craniosynostosis syndromes.
Human genetics 1997;99(2):251-5.
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1996: Gecz J; Gedeon A K; Sutherland G R; Mulley J C
Identification of the gene FMR2, associated with FRAXE mental retardation.
Nature genetics 1996;13(1):105-8.
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