Scientific Commons: Jozef Gecz

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009)

Smith, Raffaella, Pleasance, Erin, Whibley, Annabel, Edkins, Sarah, Hardy, Claire, ...

Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have...

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (2009)

Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, ...

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet...

Lessons learnt from large-scale exon re-sequencing of the X chromosome (2009)

Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef

A candidate gene approach to identifying novel causes of disease is concept-limiting and in the new era of high throughput sequencing there is now no need to restrict the experiment to a few...

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure (2009)

Bensaid, Mounia, Melko, Mireille, Bechara, Elias G., Davidovic, Laetitia, Berretta, Antonio, Catania, Maria Vincenza, ...

FRAXE is a form of mild to moderate mental retardation due to the silencing of the FMR2 gene. The cellular function of FMR2 protein is presently unknown. By analogy with its homologue AF4, FMR2 was...

A Novel Genetic Syndrome Characterized by Pediatric Cataract, Dysmorphism, Ectodermal Features, and Developmental Delay in an Indigenous Australian Family (2009)

Burdon, Kathryn P., Durkin, Shane Raymond, Burke, Mary, Edwards, Matt, Pater, John, Straga, Tania, ...

A Novel Genetic Syndrome Characterized by Pediatric Cataract, Dysmorphism, Ectodermal Features, and Developmental Delay in an Indigenous Australian Family (2009)

Burdon, Kathryn P., Durkin, Shane Raymond, Burke, Mary, Edwards, Matt, Pater, John, Straga, Tania, ...

Lessons learnt from large-scale exon re-sequencing of the X chromosome (2009)

Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef

A candidate gene approach to identifying novel causes of disease is concept-limiting and in the new era of high throughput sequencing there is now no need to restrict the experiment to a few...

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure (2009)

Bensaid, Mounia, Melko, Mireille, Bechara, Elias G., Davidovic, Laetitia, Berretta, Antonio, Catania, Maria Vincenza, ...

FRAXE is a form of mild to moderate mental retardation due to the silencing of the FMR2 gene. The cellular function of FMR2 protein is presently unknown. By analogy with its homologue AF4, FMR2 was...

Lessons learnt from large-scale exon re-sequencing of the X chromosome (2009)

Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef

A candidate gene approach to identifying novel causes of disease is concept-limiting and in the new era of high throughput sequencing there is now no need to restrict the experiment to a few...

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure (2009)

Bensaid, Mounia, Melko, Mireille, Bechara, Elias G., Davidovic, Laetitia, Berretta, Antonio, Catania, Maria Vincenza, ...

FRAXE is a form of mild to moderate mental retardation due to the silencing of the FMR2 gene. The cellular function of FMR2 protein is presently unknown. By analogy with its homologue AF4, FMR2 was...

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism (2009)

Shoubridge, Cheryl Ann, Gecz, Jozef

F. Laumonnier, C. Shoubridge, L.S. Nguyen, H. Van Esch, T. Kleefstra, S. Briault, J.P. Fryns, B. Hamel, J. Chelly, H.H. Ropers, N. Ronce, S. Blesson, C. Moraine, J. Gécz and M. Raynaud

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism (2009)

Shoubridge, Cheryl Ann, Gecz, Jozef

F. Laumonnier, C. Shoubridge, L.S. Nguyen, H. Van Esch, T. Kleefstra, S. Briault, J.P. Fryns, B. Hamel, J. Chelly, H.H. Ropers, N. Ronce, S. Blesson, C. Moraine, J. Gécz and M. Raynaud

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation (2008)

Tarpey, Patrick S, Morelle, Willy, Boissel, Sarah, Teague, Jon, ...

Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for...

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression (2008)

Lenzner, Steffen, Jensen, Lars Riff, Des Portes, Vincent, ...

Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the...

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients (2008)

Butcher, Carolyn Marie, Hahn, U., To, Luen Bik, Gecz, Jozef, Wilkins, E. J., Scott, Hamish Steele, ...

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment (2008)

Dibbens, Leanne Michelle, Tarpey, Patrick, Hynes, Kim, Bayly, Marta A., Scheffer, Ingrid E., Smith, Raffaella, ...

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients (2008)

Butcher, Carolyn Marie, Hahn, U., To, Luen Bik, Gecz, Jozef, Wilkins, E. J., Scott, Hamish Steele, ...

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment (2008)

Dibbens, Leanne Michelle, Tarpey, Patrick, Hynes, Kim, Bayly, Marta A., Scheffer, Ingrid E., Smith, Raffaella, ...

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (2008)

Frints, Suzanna Gerarda Maria, Lenzner, Steffen, Bauters, Mareike, Jensen, Lars Riff, Van Esch, Hilde, Des Portes, Vincent, ...

Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the...

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (2008)

Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, ...

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet...

Epilepsy and mental retardation limited to females: an under-recognized disorder (2008)

Scheffer, Ingrid E., Turner, Samantha J., Dibbens, Leanne M., Bayly, Marta A., Friend, Kathryn, Hodgson, Bree, ...

Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance...

Epilepsy and mental retardation limited to females: an under-recognized disorder (2008)

Scheffer, Ingrid E., Turner, Samantha J., Dibbens, Leanne M., Bayly, Marta A., Friend, Kathryn, Hodgson, Bree, ...

Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance...

Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation (2008)

Turner, Gillian, Boyle, J., Partington, Michael W., Kerr, B., Raymond, F. L., Gecz, Jozef

G. Turner, J. Boyle, M.W. Partington, B. Kerr, F.L. Raymond, J. Gécz

Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation (2008)

Turner, Gillian, Boyle, J., Partington, Michael W., Kerr, B., Raymond, F. L., Gecz, Jozef

G. Turner, J. Boyle, M.W. Partington, B. Kerr, F.L. Raymond, J. Gécz

XLMR genes: update 2007 (2008)

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

X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability with an estimated prevalence of 1/1000 males. Most XLMR conditions are inherited as X-linked recessive...

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes (2008)

Jaekle Santos, L., Xing, C., Barnes, R., Ades, Lesley Carole, Megarbane, A., Vidal, C., ...

The original publication can be found at www.springerlink.com

XLMR genes: update 2007 (2008)

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

X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability with an estimated prevalence of 1/1000 males. Most XLMR conditions are inherited as X-linked recessive...

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes (2008)

Jaekle Santos, L., Xing, C., Barnes, R., Ades, Lesley Carole, Megarbane, A., Vidal, C., ...

The original publication can be found at www.springerlink.com

Epilepsy and mental retardation limited to females: an under-recognized disorder (2008)

Dibbens, Leanne Michelle, Haan, Eric Albert, Gecz, Jozef, Mulley, John Charles

Ingrid E. Scheffer... Leanne M. Dibbens... Eric Haan... Jozef Gecz, John C. Mulley... et al.

Epilepsy and mental retardation limited to females: an under-recognized disorder (2008)

Dibbens, Leanne Michelle, Haan, Eric Albert, Gecz, Jozef, Mulley, John Charles

Ingrid E. Scheffer... Leanne M. Dibbens... Eric Haan... Jozef Gecz, John C. Mulley... et al.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (2008)

Gecz, Jozef

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet...

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders (2008)

Peat, Rachel A., Gecz, Jozef, Fallon, Justin R., Tarpey, Patrick, Smith, Raffaella, Futreal, P. Andrew, ...

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (2008)

Gecz, Jozef

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet...

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders (2008)

Peat, Rachel A., Gecz, Jozef, Fallon, Justin R., Tarpey, Patrick, Smith, Raffaella, Futreal, P. Andrew, ...

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression (2008)

Frints, Suzanna G. M., Lenzner, S., Bauters, Marijke, Jensen, Lars-Riff, Van Esch, Hilde, Des Portes, Vincent, ...

Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the...

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression (2008)

Frints, Suzanna G. M., Lenzner, S., Bauters, Marijke, Jensen, Lars-Riff, Van Esch, Hilde, Des Portes, Vincent, ...

Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the...

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform (2008)

Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, F. A., ...

Purpose: Nance-Horan syndrome is typically characterized by severe bilateral congenital cataracts and dental abnormalities. Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this...

A novel locus for X-linked congenital cataract on Xq24 (2008)

Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M., Trotski, Mark, Mackey, David A., ...

Purpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. Methods: A large three-generation family with lamellar and nuclear cataract in five...

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform (2008)

Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, F. A., ...

Purpose: Nance-Horan syndrome is typically characterized by severe bilateral congenital cataracts and dental abnormalities. Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this...

A novel locus for X-linked congenital cataract on Xq24 (2008)

Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M., Trotski, Mark, Mackey, David A., ...

Purpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. Methods: A large three-generation family with lamellar and nuclear cataract in five...

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans (2007)

Arai, Amy C, Rumbaugh, Gavin, Srivastava, Anand K, Turner, Gillian, Hayashi, Takashi, ...

Ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors (iGluRs) mediate the majority of excitatory synaptic transmission in the CNS and are essential for the induction...

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH (2007)

Parkel, Sven, Zilina, Ga, Palta, Priit, Puusepp, Helen, Remm, Maido, ...

The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental...

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 (2007)

Boyle, Jackie, Van Bokhoven, Hans, ...

Using high resolution X chromosome array-CGH we identified an interstitial microdeletion at Xp11.23 in three brothers with moderate to severe mental retardation (MR) without dysmorphic features. The...

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation (2007)

Jensen, Lars R, Gecz, Jozef, Moraine, Claude, De Brouwer, Arjan, ...

MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as...

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor (2007)

Christie, Paul T, Grigorieva, Irina V, Harding, Brian, Ahmed, S Faisal, ...

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR...

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium (2007)

Yntema, Helger G, Kleefstra, Tjitske, Lugtenberg, Dorien, Oudakker, Astrid R, ...

The EuroMRX family cohort consists of about 400 families with non-syndromic and 200 families with syndromic X-linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands...

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation (2007)

Chen, Wei, Jensen, Lars R, Gecz, Jozef, Fryns, Jean-Pierre, Moraine, Claude, De Brouwer, Arjan, ...

MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as...

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium (2007)

Yntema, Helger G., Kleefstra, Tjitske, Lugtenberg, Dorien, Oudakker, Astrid R., ...

The EuroMRX family cohort consists of about 400 families with non-syndromic and 200 families with syndromic X-linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands...

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation (2007)

Chen, Wei, Jensen, Lars R, Gecz, Jozef, Fryns, Jean-Pierre, Moraine, Claude, De Brouwer, Arjan, ...

MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as...

Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor (2007)

Tarpey, Patrick, Raymond, F Lucy, O'Meara, Sarah, Edkins, Sarah, Teague, Jon, Butler, A., ...

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor (2007)

Ali, Asif, Christie, Paul, Grigorieva, Irina V., Harding, Brian, Ahmed, S. Faisal, ...

Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor (2007)

Tarpey, Patrick, Raymond, F Lucy, O'Meara, Sarah, Edkins, Sarah, Teague, Jon, Butler, A., ...

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor (2007)

Ali, Asif, Christie, Paul, Grigorieva, Irina V., Harding, Brian, Ahmed, S. Faisal, ...

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation (2007)

Chen, Wei-Hao, Jensen, Lars-Riff, Gecz, Jozef, Fryns, Jean-Pierre, Moraine, Claude, ...

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation (2007)

Chen, Wei-Hao, Jensen, Lars-Riff, Gecz, Jozef, Fryns, Jean-Pierre, Moraine, Claude, ...

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus (2007)

Raymond, F. Lucy, Tarpey, Patrick, Edkins, Sarah, Tofts, C., O'Meara, Sarah, Teague, Jon, ...

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH (2007)

Kousoulidou, Ludmila, Parkel, Sven, Zilina, Olga, Palta, Priit, Puusepp, Helen, Remm, Maido, ...

McKenzie, Olivia L. D., Ponte, I., Mangelsdorf, Marie Elise, Finnis, Merran, Colasante, G., Shoubridge, C. A., ...

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 (2007)

Froyen, Guy, Bauters, Marijke, Boyle, Jacqueline Anne, Ropers, Hans-Hilger, ...

The original publication can be found at www.springerlink.com

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium (2007)

Yntema, Helger, Kleefstra, T., Lugtenberg, D., Oudakker, Astrid R., ...

Published in Human Mutation, 2007; 28 (2):207-208 at www.interscience.wiley.com

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (2007)

Tarpey, Patrick, Raymond, F Lucy, Nguyen, Lam S., Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, ...

Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens, Sarah O'Meara, Calli Tofts, Syd...

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans (2007)

Wu, Ye, Arai, Amy C., Rumbaugh, Gavin, Srivastava, Anand K., Turner, Gillian, Hayashi, Takashi, ...

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly (2007)

Field, Michael, Tarpey, Patrick, Smith, Raffaella, Edkins, Sarah, O'Meara, Sarah, Stevens, Claire, ...

The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene (2007)

Schwartz, Charles E., Tarpey, Patrick, Lubs, Herbert A., Verloes, Alain, May, Melanie, Risheg, Hiba, ...

Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity (2007)

Voss, Anne K., Gamble, Robin, Collin, Caitlin, Shoubridge, C.A., Corbett, Mark, Gecz, Jozef, ...

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene (2007)

Shoubridge, C.A., Cloosterman, Desiree Cherie Kim, Parkinson-Lawrence, Emma Jane, Brooks, Douglas Alexander, Gecz, Jozef

Fragile X Syndrome and other causes of X-Linked mental handicap (2007)

Sutherland, Grant Robert, Gecz, Jozef, Mulley, John Charles

5th ed.

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus (2007)

Raymond, F. Lucy, Tarpey, Patrick, Edkins, Sarah, Tofts, C., O'Meara, Sarah, Teague, Jon, ...

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH (2007)

Kousoulidou, Ludmila, Parkel, Sven, Zilina, Olga, Palta, Priit, Puusepp, Helen, Remm, Maido, ...

McKenzie, Olivia L. D., Ponte, I., Mangelsdorf, Marie Elise, Finnis, Merran, Colasante, G., Shoubridge, C. A., ...

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 (2007)

Froyen, Guy, Bauters, Marijke, Boyle, Jacqueline Anne, Ropers, Hans-Hilger, ...

The original publication can be found at www.springerlink.com

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium (2007)

Yntema, Helger, Kleefstra, T., Lugtenberg, D., Oudakker, Astrid R., ...

Published in Human Mutation, 2007; 28 (2):207-208 at www.interscience.wiley.com

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (2007)

Tarpey, Patrick, Raymond, F Lucy, Nguyen, Lam S., Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, ...

Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens, Sarah O'Meara, Calli Tofts, Syd...

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans (2007)

Wu, Ye, Arai, Amy C., Rumbaugh, Gavin, Srivastava, Anand K., Turner, Gillian, Hayashi, Takashi, ...

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly (2007)

Field, Michael, Tarpey, Patrick, Smith, Raffaella, Edkins, Sarah, O'Meara, Sarah, Stevens, Claire, ...

The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene (2007)

Schwartz, Charles E., Tarpey, Patrick, Lubs, Herbert A., Verloes, Alain, May, Melanie, Risheg, Hiba, ...

Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity (2007)

Voss, Anne K., Gamble, Robin, Collin, Caitlin, Shoubridge, C.A., Corbett, Mark, Gecz, Jozef, ...

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene (2007)

Shoubridge, C.A., Cloosterman, Desiree Cherie Kim, Parkinson-Lawrence, Emma Jane, Brooks, Douglas Alexander, Gecz, Jozef

Fragile X Syndrome and other causes of X-Linked mental handicap (2007)

Sutherland, Grant Robert, Gecz, Jozef, Mulley, John Charles

5th ed.

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH (2007)

Kousoulidou, Ludmila, Parkel, Sven, Zilina, Olga, Palta, Priit, Puusepp, Helen, Remm, Maido, ...

The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental...

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans (2007)

Wu, Ye, Arai, Amy C., Boyle, Jackie, Tarpey, Patrick, Raymond, F. Lucy, Nevelsteen, Joke, ...

Ionotropic α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors (iGluRs) mediate the majority of excitatory synaptic transmission in the CNS and are essential for the induction and...

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans (2007)

Wu, Ye, Arai, Amy C., Boyle, Jackie, Tarpey, Patrick, Raymond, F. Lucy, Nevelsteen, Joke, ...

Ionotropic α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors (iGluRs) mediate the majority of excitatory synaptic transmission in the CNS and are essential for the induction and...

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor (2007)

Ali, Asif, Christie, Paul T., Grigorieva, Irina V., Harding, Brian, Van Esch, Hilde, Ahmed, S. Faisal, ...

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR...

Functional Characterisation of GATA3 Mutations causing the Hypoparathyroidism-Deafness-Renal Dysplasia (HDR) Syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. (2007)

Ali, Asif, Christie, Paul T., Grigorieva, Irina V., Harding, Brian, Van Esch, Hilde, Ahmed, S. Faisal, ...

The hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR...

ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation (2006)

Yntema, Helger G, Banning, Martijn J G, Oudakker, Astrid R, Firth, Helen V, Willatt, Lionel, ...

Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning...

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient (2006)

Crawford, J., Lower, K. M., Hennekam, R. C. M., Van Esch, H., Megarbane, A., Lynch, S. A., ...

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males (2005)

Ignatius, Jaakko, Raynaud, Martine, ...

Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative...

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation (2005)

Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, ...

In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes...

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene (2005)

Stepp, Monica L., Cason, A. Lauren, Finnis, Merran, Mangelsdorf, Marie Elise, Holinski-Feder, Elke, Macgregor, David, ...

Rett syndrome: clinical review and genetic update (2005)

Weaving, L. S., Ellaway, C. J., Gecz, Jozef, Christodoulou, J.

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene (2005)

Stepp, Monica L., Cason, A. Lauren, Finnis, Merran, Mangelsdorf, Marie Elise, Holinski-Feder, Elke, Macgregor, David, ...

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene (2005)

Stepp, Monica L., Cason, A. Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, ...

Background: X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and...

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation (2004)

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

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males (2004)

Cantagrel, V., Lossi, A-M., Boulanger, S., Depetris, D., Mattei, M-G., Gecz, Jozef, ...

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation (2004)

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

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males (2004)

Cantagrel, V., Lossi, A-M., Boulanger, S., Depetris, D., Mattei, M-G., Gecz, Jozef, ...

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation (2004)

Tarpey, Patrick, Parnau, Josep, Blow, Matthew, Woffendin, Hayley, Bignell, Graham, Cox, Charles, ...

We have identified truncating mutations in the human DLG3 ( neuroendocrine dlg) gene in 4 of 329 families with moderate to severe X-linked mental retardation. DLG3 encodes synapse-associated protein...

Nonsyndromic X-linked mental retardation: where are the missing mutations? (2003)

Hoeltzenbein, Maria, Kalscheuer, Vera, Yntema, Helger, Hamel, Ben, ...

Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined...

Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome (2003)

Baumstark, A., Lower, K. M., Sinkus, A., Andriuskeveviciute, I., Jurkeniene, L., Gecz, Jozef, ...

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation (2003)

Kalscheuer, Vera M., Freude, Kristine, Musante, Luciana, Jensen, Lars R., Yntema, Helger G., Gecz, Jozef, ...

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental...

Nonsyndromic X-linked mental retardation: where are the missing mutations? (2003)

Ropers, Hans-Hilger, Hoeltzenbein, Maria, Kalscheuer, Vera, Yntema, Helger, Hamel, Ben, Fryns, Jean-Pierre, ...

Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined...

Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation. (2003)

Kalscheuer, Vera M., Freude, Kristine, Jensen, Luciana J., Musante, Lars, Yntema, Helger G., Gecz, Jozef, ...

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental...

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX (2003)

Stromme, P., Bakke, S.J., Dahl, A., Gecz, Jozef

Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome (2003)

Baumstark, A., Lower, K. M., Sinkus, A., Andriuskeveviciute, I., Jurkeniene, L., Gecz, Jozef, ...

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX (2003)

Stromme, P., Bakke, S.J., Dahl, A., Gecz, Jozef

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 (2002)

Lossi, A., Laugier-Anfossi, F., Depetris, D., Gecz, Jozef, Gedeon, A. K., Kooy, F., ...

Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a...

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 (2002)

Lossi, A., Laugier-Anfossi, F., Depetris, D., Gecz, Jozef, Gedeon, A. K., Kooy, F., ...

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. (2001)

Tiller, George E., Hannig, Vickie L., Dozier, Damon, Carrel, Laura, Trevarthen, Karrie C., Wilcox, William R., ...

Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis. Both autosomal and X-linked forms...

Gene structure and expression study of the SEDL gene for Spondyloepiphyseal Dysplasia Tarda (2000)

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

Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder of endochondral bone formation caused by mutations in the SEDL gene. Here we present the structural analysis and...

FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations (2000)

Gecz, Jozef

Genes for cognitive function: Developments on the X (2000)

Gecz, Jozef, Mulley, John Charles

Developments in human genome research enabled the first steps toward a molecular understanding of cognitive function. That there are numerous genes on the X chromosome affecting intelligence at the...

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome (2000)

Villard, Laurent, Fontes, M, Ades, Lesley Carole, Gecz, Jozef

Gene structure and expression study of the SEDL gene for Spondyloepiphyseal Dysplasia Tarda (2000)

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

Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder of endochondral bone formation caused by mutations in the SEDL gene. Here we present the structural analysis and...

FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations (2000)

Gecz, Jozef

Genes for cognitive function: Developments on the X (2000)

Gecz, Jozef, Mulley, John Charles

Developments in human genome research enabled the first steps toward a molecular understanding of cognitive function. That there are numerous genes on the X chromosome affecting intelligence at the...

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome (2000)

Villard, Laurent, Fontes, M, Ades, Lesley Carole, Gecz, Jozef

Villard, L., Briault, S., Lossi, A. M., Paringaux, C., Belougne, J., Colleaux, L., ...

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase (1994)

Stayton, Carol L., Dabovic, Branka, Gulisano, Massimo, Gecz, Jozef, Broccoll, VanIa, Glovanazzl, Serenella, ...

We describe the cloning and characterization of a new human Xq13 gene (XH2), extending over a 220 kb genomlc stretch between MNK and DXS56. The gene, which undergoes X-inactivatlon, contains a 4 kb...

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

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

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

Stepp, Monica L, Cason, A Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, ...

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Tarpey, Patrick, Parnau, Josep, Blow, Matthew, Woffendin, Hayley, Bignell, Graham, Cox, Charles, ...

We have identified truncating mutations in the human DLG3 (neuroendocrine dlg) gene in 4 of 329 families with moderate to severe X-linked mental retardation. DLG3 encodes synapse-associated protein...

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

Tiller, George E., Hannig, Vickie L., Dozier, Damon, Carrel, Laura, Trevarthen, Karrie C., Wilcox, William R., ...

Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis. Both autosomal and X-linked forms...

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

Raymond, F. Lucy, Tarpey, Patrick S., Edkins, Sarah, Tofts, Calli, O’Meara, Sarah, Teague, Jon, ...

We have identified one frameshift mutation, one splice-site mutation, and two missense mutations in highly conserved residues in ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked mental retardation...

A novel locus for X-linked congenital cataract on Xq24

Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M, Troski, Mark, Mackey, David A., ...

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Wu, Ye, Arai, Amy C., Rumbaugh, Gavin, Srivastava, Anand K., Turner, Gillian, Hayashi, Takashi, ...

Ionotropic α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors (iGluRs) mediate the majority of excitatory synaptic transmission in the CNS and are essential for the induction and...

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

Bensaid, Mounia, Melko, Mireille, Bechara, Elias G., Davidovic, Laetitia, Berretta, Antonio, Catania, Maria Vincenza, ...

FRAXE is a form of mild to moderate mental retardation due to the silencing of the FMR2 gene. The cellular function of FMR2 protein is presently unknown. By analogy with its homologue AF4, FMR2 was...

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, ...

Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for...

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gilfillan, Gregor D., Selmer, Kaja K., Roxrud, Ingrid, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, ...

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman...

Lessons learnt from large-scale exon re-sequencing of the X chromosome

Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef

A candidate gene approach to identifying novel causes of disease is concept-limiting and in the new era of high throughput sequencing there is now no need to restrict the experiment to a few...

Jozef Gecz

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