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1. Full Text Refining analyses of copy number variation identifies specific genes associated with developmental delay
by Coe, B.P and Witherspoon, K and Rosenfeld, J.A and Bon, B.W.M. van and Silfhout, A.T. van and Bosco, P and Friend, K.L and Baker, C and Buono, S and Vissers, L.E.L.M and Schuurs-Hoeijmakers, J.H.M and Hoischen, A and Pfundt, R and Krumm, N and Carvill, G.L and Li, D and Amaral, D and Brown, N and Lockhart, P.J and Scheffer, I.E and Alberti, A and Shaw, M and Pettinato, R and Tervo, R and Leeuw, N. de and Reijnders, M.R and Torchia, B.S and Peeters, H and Thompson, E and O'Roak, B.J and Fichera, M and Hehir-Kwa, J.Y and Shendure, J and Mefford, H.C and Haan, E and Gécz, J and Vries, B.B. de and Romano, C and Eichler, E.E
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes... 
INTELLECTUAL DISABILITY | MOLECULAR CHARACTERIZATION | DE-NOVO MUTATIONS | MENTAL-RETARDATION | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDER | MICRODELETION SYNDROME | SEGMENTAL DUPLICATIONS | DELETIONS | SCHINZEL-GIEDION SYNDROME | CLINICAL-SIGNIFICANCE | Autistic Disorder - genetics | Haploinsufficiency - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Male | Chromosome Mapping | Developmental Disabilities - genetics | Sequence Analysis, DNA | DNA Copy Number Variations | Intellectual Disability - genetics | Carrier Proteins - genetics | Comparative Genomic Hybridization | Base Sequence | Female | Polymorphism, Single Nucleotide | Nuclear Proteins - genetics | Child | Psychological aspects | Copy number variations | Genes | Genetic aspects | Health aspects | Identification and classification | Developmental delay | Studies | Medical research | Autism | Integrated approach | Genomics | Mental health | Mutation | Morbidity | Index Medicus
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2. Full Text PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
by Heron, Sarah E and Grinton, Bronwyn E and Kivity, Sara and Afawi, Zaid and Zuberi, Sameer M and Hughes, James N and Pridmore, Clair and Hodgson, Bree L and Iona, Xenia and Sadleir, Lynette G and Pelekanos, James and Herlenius, Eric and Goldberg-Stern, Hadassa and Bassan, Haim and Haan, Eric and Korczyn, Amos D and Gardner, Alison E and Corbett, Mark A and Gécz, Jozef and Thomas, Paul Q and Mulley, John C and Berkovic, Samuel F and Scheffer, Ingrid E and Dibbens, Leanne M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 152 - 160
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified... 
CHROMOSOME 16P12-Q12 | GLUT1 | DYSKINESIA | GENETICS & HEREDITY | FEBRILE SEIZURES | LINKAGE | LOCUS | ONSET | Seizures - genetics | Membrane Proteins - genetics | Humans | Child, Preschool | Molecular Sequence Data | Athetosis - genetics | Infant | Male | Nerve Tissue Proteins - genetics | Animals | Epilepsy, Benign Neonatal - genetics | Pedigree | Base Sequence | Age of Onset | Brain - pathology | Mice | Mutation | Chorea - genetics | Chromosomes, Human, Pair 16 - genetics | Gene mutations | Epilepsy in children | Causes of | Genetic aspects | Research | Convulsions | Health aspects | Movement disorders | Membrane proteins | Babies | Proteins | Genetic research | Convulsions & seizures | Epilepsy | Index Medicus | Basal ganglia | Protein kinase C | paroxysmal kinesigenic | Benign | Cortex | Heredity | pleiotropy | Choreoathetosis | Children | Age | Seizures | Report
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3. Full Text Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor
by Mattiske, Tessa and Tan, May H and Dearsley, Oliver and Cloosterman, Desiree and Hii, Charles S and Gécz, Jozef and Shoubridge, Cheryl
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 11, pp. e0206914 - e0206914
Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in development. Here we identify that ARX... 
ENDOCRINE PANCREAS | AMINO-ACID-SEQUENCE | INFANTILE SPASMS | PROTEIN | MENTAL-RETARDATION | MULTIDISCIPLINARY SCIENCES | MOUSE | ALPHA-CELL | HOMEOBOX GENE | EXPRESSION | GABAERGIC NEURONS | Phosphorylation - physiology | Protein Kinase C-alpha - metabolism | Homeodomain Proteins - metabolism | Humans | Nuclear Proteins - metabolism | Gene Expression Profiling | Transcription Factors - genetics | Serine - metabolism | Homeodomain Proteins - genetics | Glucagon-Secreting Cells | Transcription Factors - metabolism | Animals | Carrier Proteins - metabolism | Cell Nucleus - metabolism | HEK293 Cells | Mice | Mutation | Gene Expression Regulation, Developmental - physiology | Amino acids | Genetic aspects | Gene expression | Protein kinases | Mass spectrometry | Phosphorylation | Analysis | B cells | Research | Nucleotide sequencing | DNA sequencing | Protein kinase C | Transcription factors | Yeast | Genes | Serine | Cyclin-dependent kinases | Mass spectroscopy | Kinases | Medical schools | Mutants | Homeobox | Proteins | ARX protein | Brain research | Transcription activation | Pancreas | Deoxyribonucleic acid--DNA | Index Medicus | Deoxyribonucleic acid | DNA
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4. Full Text Glutamate receptors and learning and memory
by Gécz, Jozef
Nature Genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 925 - 926
  [...] Endele et al.3 screened additional cohorts of individuals with intellectual disability or epilepsy and hundreds of controls and identified thirteen... 
GRIN2A | GENETICS & HEREDITY | GENETIC ENHANCEMENT | COGNITIVE IMPAIRMENT | DISORDERS | MICE | MUTATIONS | SUBUNIT | Learning - physiology | Translocation, Genetic | Phenotype | Receptors, Glutamate - genetics | Synapses - physiology | Humans | Epilepsy - genetics | Intellectual Disability - genetics | Memory - physiology | Receptors, N-Methyl-D-Aspartate - genetics | Physiological aspects | Genetic aspects | Research | AMPA receptors | Glutamate | Mental illness | Autism | Rodents | Genetics | Mutation | Behavior | Mental retardation | Brain diseases
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5. Full Text X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
by Jenkinson, Andrew and Varian, Jennifer and Shoubridge, Cheryl and Vandeleur, Lucianne and Shepherd, Rebecca and Hynes, Kim and Shaw, Marie and Gusella, James F and Teague, John and Edkins, Sarah and Dicks, Ed and Dibbens, Leanne M and Haan, Eric and Gécz, Jozef and Halliday, Kelly and Lerman-Sagie, Tally and Sutton, Edwina and Corbett, Mark and Wray, Paul and Bomar, Jamee and Stevens, Claire and Scheffer, Ingrid E and Barthorpe, Syd and Butler, Adam and Tarpey, Patrick S and Jones, David and Bayly, Marta A and Madison, Mark and West, Sofie and Lev, Dorit and Stratton, Michael R and Neufeld, Miriam Y and Korczyn, Amos D and Tofts, Calli and Futreal, P Andrew and Turner, Samantha J and Kim, Hyung-Goo and Berkovic, Samuel F and Buck, Gemma and O'Meara, Sarah and Friend, Kathryn and Kivity, Sara and Afawi, Zaid and Mironenko, Tatiana and McKee, Shane and Cole, Jennifer and Lee, Rebecca and Geschwind, Daniel H and Widaa, Sara and Ryan, Stephen and Smith, Raffaella and Sutherland, Grant R and Menzies, Andrew and Mulley, John C and Mazarib, Aziz and Derry, Christopher P and Thomas, Paul
Nature Genetics, ISSN 1061-4036, 06/2008, Volume 40, Issue 6, pp. 776 - 781
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disorders... 
ORGANIZATION | CADHERIN SUPERFAMILY | MEMBERS | GENES | GENETICS & HEREDITY | CONVULSIVE DISORDER | DIVERSITY | FAMILIAL FORM | EXPRESSION | BRAIN | Genomic Imprinting | Skin - cytology | Skin - metabolism | Humans | Male | Brain - growth & development | RNA, Messenger - metabolism | Case-Control Studies | Mutation, Missense - genetics | Mice - embryology | Brain - metabolism | Chromosomes, Human, X | Mental Retardation, X-Linked - genetics | In Situ Hybridization | Gene Expression Regulation, Developmental | Epilepsy - genetics | Female | Cadherins - genetics | Fibroblasts - metabolism | Mental Retardation, X-Linked - pathology | Genes, X-Linked - genetics | RNA, Messenger - genetics | Cognition Disorders - pathology | Cognition Disorders - genetics | Reverse Transcriptase Polymerase Chain Reaction | Phenotype | Animals | Pedigree | Brain - pathology | Fibroblasts - cytology | Epilepsy - pathology | Codon, Nonsense - genetics | Complications and side effects | Gene mutations | Epilepsy | Genetic aspects | Cognition disorders | Research | Diagnosis | Risk factors | Medical research | Tissue | Autism | Mental disorders | Genetic linkage | Amino acids | Learning disabilities | Mutation | Mental retardation | Chromosomes | Cell adhesion & migration | Index Medicus
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6. Full Text Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
by Van Esch, Hilde and Bauters, Marijke and Ignatius, Jaakko and Jansen, Mieke and Raynaud, Martine and Hollanders, Karen and Lugtenberg, Dorien and Bienvenu, Thierry and Jensen, Lars Riff and Gécz, Jozef and Moraine, Claude and Marynen, Peter and Fryns, Jean-Pierre and Froyen, Guy
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 77, Issue 3, pp. 442 - 453
Loss-of-function mutations of the gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation... 
INHERITED DUPLICATION | RETT-SYNDROME | GENE | GENETICS & HEREDITY | MUTATIONS | COMPARATIVE GENOMIC HYBRIDIZATION | CPG-BINDING PROTEIN-2 | FUNCTIONAL DISOMY | MOLECULE L1 | EXPRESSION | DISTAL XQ | Gene Duplication | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Nucleic Acid Hybridization | Chromosomes, Human, X - genetics | Pedigree | Humans | Male | DNA Primers | Methyl-CpG-Binding Protein 2 - genetics | Intellectual Disability - genetics | Neurologic manifestations of general diseases | Genetic aspects | Research | Health aspects | Human genetics | Men | Families & family life | Genotype & phenotype | Mutation | Genetic testing | Males | Mental retardation | Index Medicus
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7. Full Text Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
by Proos, Anne and Gécz, Jozef and Hackett, Anna and Ramsden, Sarah L and Shoubridge, Cheryl and Gardner, Alison and Stratton, Michael R and Harvey, Robert J and Raymond, F Lucy and Field, Michael and Murphy, Jessica A and Puusepp, Helen and Schwartz, Charles E and Shaw, Marie and Turner, Gill and Abidi, Fatima and Walikonis, Randall S and Futreal, P Andrew and Tarpey, Patrick S and Stevenson, Roger E and Rujirabanjerd, Sinitdhorn and Boyle, Jackie
Nature Genetics, ISSN 1061-4036, 06/2010, Volume 42, Issue 6, pp. 486 - 488
The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine... 
ACTIVATION | LINKED MENTAL-RETARDATION | POSTSYNAPTIC DENSITY | EXCITATORY SYNAPSES | GENETICS & HEREDITY | Chromosomes, Human, X | Guanine Nucleotide Exchange Factors - genetics | Mental Retardation, X-Linked - genetics | Pedigree | Humans | Female | Male | Mutation | Gene mutations | Genetic aspects | Research | Diagnosis | Health aspects | Mental illness | Risk factors | Proteins | Studies | Disability | Genes | Comparative analysis | Chromosomes | Index Medicus
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8. Full Text A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
by Banks, Valerie C and Dickerson, Jennifer and Siswara, Priscillia and Levy, Deborah L and Girirajan, Santhosh and Friend, Kathryn L and Rosenfeld, Jill A and Fichera, Marco and McCarthy, Shane E and Antonacci, Francesca and Escobar, Luis F and Smith, Wendy and Shaffer, Lisa G and Farber, Darren M and Hudson, Cindy and Ozmore, Jillian R and Kussmann, Jennifer and King, Mary-Claire and Shaikh, Tamim H and Platky, Kathryn and Ballif, Blake C and Wetherbee, Jessica J and Asamoah, Alexander and DeLisi, Lynn E and French, Beatrice N and Sebat, Jonathan and Smith, Rosemarie and Hoo, Joe J and McDonald-McGinn, Donna M and Haan, Eric and Baker, Carl and Itsara, Andy and Romano, Corrado and Gécz, Jozef and Vives, Laura and Gowans, Gordon C and Zackai, Elaine H and Deardorff, Matthew A and Mark, Paul R and Surti, Urvashi and Moeschler, John B and El-Khechen, Dima and Browning, Sharon R and Gorski, Jerome L and Garg, Bhuwan P and McDonald, Marie T and Ellingwood, Sara A and Dickel, Diane E and Salbert, Bonnie and Cooper, Gregory M and Mefford, Heather C and Walsh, Tom and Browning, Brian L and Eichler, Evan E and Weaver, David D and Johnson, John P and Lacassie, Yves and Kidd, Jeffrey M and Biser, Alisha
Nature Genetics, ISSN 1061-4036, 03/2010, Volume 42, Issue 3, pp. 203 - 209
We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20... 
COSTA-RICA | MENTAL-RETARDATION | INCREASE RISK | COPY NUMBER VARIATIONS | GENETICS & HEREDITY | LEARNING-DISABILITY | CHROMOSOMAL IMBALANCE | ARRAY CGH | COMORBID SCHIZOPHRENIA | DELETION SYNDROME | GENOME-WIDE ASSOCIATION | Chromosome Deletion | Severity of Illness Index | Recurrence | Oligonucleotide Array Sequence Analysis | Gene Frequency | Humans | Child, Preschool | Infant | Developmental Disabilities - genetics | Comparative Genomic Hybridization - methods | Case-Control Studies | Phenotype | Pedigree | Adult | Family | Models, Genetic | Polymorphism, Single Nucleotide | Child | Chromosomes, Human, Pair 16 - genetics | Developmental delay | Genetic aspects | Models | Disability | Autism | Artificial chromosomes | Experiments | Index Medicus
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9. Full Text Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
by Molinari, Florence and Foulquier, François and Tarpey, Patrick S and Morelle, Willy and Boissel, Sarah and Teague, Jon and Edkins, Sarah and Futreal, P. Andrew and Stratton, Michael R and Turner, Gillian and Matthijs, Gert and Gecz, Jozef and Munnich, Arnold and Colleaux, Laurence
The American Journal of Human Genetics, ISSN 0002-9297, 05/2008, Volume 82, Issue 5, pp. 1150 - 1157
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,... 
YEAST | CELL-ADHESION MOLECULE | GENE | MEMORY | COMPLEXES | GENETICS & HEREDITY | LONG-TERM POTENTIATION | GLYCOSYLATION | PSA-NCAM | POLYSIALIC ACID | PLASTICITY | Amino Acid Sequence | Genetic Predisposition to Disease | Membrane Proteins - genetics | Humans | Hexosyltransferases - genetics | Molecular Sequence Data | Male | Glycosylation | Genes, Recessive | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Pedigree | Tumor Suppressor Proteins - genetics | Adult | Female | Mutation | Protein Subunits - genetics | Siblings | Analysis | Transferases | Genetic aspects | Oligosaccharides | Chemical properties | Mental retardation | Mutation (Biology) | Disabled people | Glycoproteins | Intellectual disabilities | Genes | Cell adhesion & migration | Index Medicus | Life Sciences | Genetics | Human genetics
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10. Full Text Developmental disorders: deciphering exomes on a grand scale
by Gecz, Jozef and Corbett, Mark
Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1266 - 1267
  In particular, study of neurodevelopmental diseases such as intellectual disability,1 autism,2 epilepsy,3 and schizophrenia4 has benefited, together with... 
Internal Medicine | INCIDENTAL FINDINGS | MEDICINE, GENERAL & INTERNAL | AUTISM | DE-NOVO MUTATIONS | Female | Male | Developmental Disabilities - diagnosis | Humans | Genome, Human - genetics | Studies | Genomes | Genomics | Developmental disabilities | Index Medicus | Abridged Index Medicus
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11. Full Text Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation
by Weaving, Linda S and Christodoulou, John and Williamson, Sarah L and Friend, Kathie L and McKenzie, Olivia L.D and Archer, Hayley and Evans, Julie and Clarke, Angus and Pelka, Gregory J and Tam, Patrick P.L and Watson, Catherine and Lahooti, Hooshang and Ellaway, Carolyn J and Bennetts, Bruce and Leonard, Helen and Gécz, Jozef
The American Journal of Human Genetics, ISSN 0002-9297, 2004, Volume 75, Issue 6, pp. 1079 - 1093
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene ( ).... 
RETT-SYNDROME | ARX GENE MUTATION | X-CHROMOSOME-INACTIVATION | GENETICS & HEREDITY | MECP2 MUTATIONS | PHENOTYPE | MOLECULAR FINDINGS | PREVALENCE | CPG-BINDING PROTEIN-2 | HOMEOBOX GENE | MOUSE EMBRYO | Heredodegenerative Disorders, Nervous System - genetics | Genetic Testing | Humans | Fluorescence | Molecular Sequence Data | Intellectual Disability - genetics | Brain - metabolism | Haplotypes - genetics | In Situ Hybridization | Base Sequence | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Methyl-CpG-Binding Protein 2 | Chromosomes, Human, X - genetics | Protein-Serine-Threonine Kinases - genetics | Repressor Proteins - genetics | Mice, Transgenic | DNA Primers | DNA-Binding Proteins - genetics | Mutation - genetics | Sequence Analysis, DNA | Blotting, Western | Chromosomal Proteins, Non-Histone - genetics | Microsatellite Repeats - genetics | Dosage Compensation, Genetic | Animals | Pedigree | Mice | Rett Syndrome - genetics | Proteins | Research | Mental retardation | Rett syndrome | Index Medicus
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