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1. Full Text X-linked mental retardation
by Ropers, H.H and Hamel, B.C.J
Nature Reviews Genetics, ISSN 1471-0056, 2005, Volume 6, Issue 1, pp. 46 - 57
Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed... 
CA2+ SENSOR 1 | ATR-X | DEPENDENT PHOSPHORYLATION | SMALL SYNAPTIC VESICLES | RETT-SYNDROME | GENETICS & HEREDITY | NUCLEOTIDE EXCHANGE FACTOR | RETARDED MALES | RAB3 EFFECTOR PROTEIN | THYROID-HORMONE TRANSPORTER | CHROMOSOMAL REARRANGEMENTS | Chromosomes, Human, X | Mental Retardation, X-Linked - classification | Mental Retardation, X-Linked - genetics | Genes | Humans | Mental Retardation, X-Linked - diagnosis | Chromosome Aberrations | Cognition | Mutation | Brain - physiology | Syndrome
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2. Full Text SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
by Gilfillan, Gregor D and Selmer, Kaja K and Roxrud, Ingrid and Smith, Raffaella and Kyllerman, Mårten and Eiklid, Kristin and Kroken, Mette and Mattingsdal, Morten and Egeland, Thore and Stenmark, Harald and Sjøholm, Hans and Server, Andres and Samuelsson, Lena and Christianson, Arnold and Tarpey, Patrick and Whibley, Annabel and Stratton, Michael R and Futreal, P. Andrew and Teague, Jon and Edkins, Sarah and Gecz, Jozef and Turner, Gillian and Raymond, F. Lucy and Schwartz, Charles and Stevenson, Roger E and Undlien, Dag E and Strømme, Petter and Institute of Clinical Sciences, Section for the Health of Women and Children and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Sahlgrenska akademin and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa
The American Journal of Human Genetics, ISSN 0002-9297, 04/2008, Volume 82, Issue 4, pp. 1003 - 1010
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and... 
LOCALIZES | NHE1 | RECYCLING ENDOSOMES | MEMBRANE | GENES | GENETICS & HEREDITY | CONSENSUS | NA+/H+ EXCHANGER ISOFORMS | DIAGNOSTIC-CRITERIA | IDENTIFICATION | PLASTICITY | Microcephaly - genetics | Membrane Proteins - genetics | Humans | Angelman Syndrome - diagnosis | Child, Preschool | Microcephaly - diagnosis | Male | Electroencephalography | Ataxia - diagnosis | Syndrome | Epilepsy - diagnosis | Magnetic Resonance Imaging | Mental Retardation, X-Linked - genetics | Phenotype | DNA Mutational Analysis | Pedigree | Mental Retardation, X-Linked - diagnosis | Angelman Syndrome - genetics | Adult | Epilepsy - genetics | Sodium-Hydrogen Exchangers - genetics | Mutation | Ataxia - genetics | Child | Usage | Genetic aspects | Research | Nucleotide sequencing | X-linked mental retardation | Mutation (Biology) | Report | Genetik | consensus | na+/h+ exchanger isoforms | identification | membrane | genes | nhe1 | diagnostic-criteria | recycling endosomes | Genetics | plasticity | localizes
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3. Full Text X-linked mental retardation: many genes for a complex disorder
by Ropers, Hans-Hilger
Current Opinion in Genetics & Development, ISSN 0959-437X, 2006, Volume 16, Issue 3, pp. 260 - 269
X-linked mental retardation (XLMR) is a common cause of moderate to severe intellectual disability in males. XLMR is very heterogeneous, and about two-thirds... 
BALANCED TRANSLOCATION | CHROMOSOME | RENPENNING SYNDROME | TRANSPORTER GENE | FREQUENT CAUSE | ARX | GENETICS & HEREDITY | MISSENSE MUTATION | RETARDED MALES | SYNAPTIC PLASTICITY | FAMILY | CELL BIOLOGY | Multigene Family - genetics | Mental Retardation, X-Linked - genetics | Animals | Humans | Mental Retardation, X-Linked - diagnosis | Mutation - genetics | X Chromosome - genetics | Syndrome | Mental Retardation, X-Linked - therapy | Genetic research | Cell research | Fragile X syndrome | Mental illness | Analysis
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4. Full Text Alpha thalassaemia-mental retardation, X linked
by Gibbons, Richard
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2006, Volume 1, Issue 1, pp. 15 - 15
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital... 
INACTIVATION | MEDICINE, RESEARCH & EXPERIMENTAL | PROTEIN ATRX | SYNDROME ATR-X | GENE | PHOSPHORYLATION | MUTATION | HETEROCHROMATIN | XNP | JUBERG-MARSIDI SYNDROME | FAMILY | Rare Diseases - genetics | Genitalia, Male - abnormalities | Prognosis | Rare Diseases - blood | Face - abnormalities | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | X-linked Nuclear Protein | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - diagnosis | alpha-Thalassemia - diagnosis | Female | alpha-Thalassemia - genetics | Nuclear Proteins - genetics | Child | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Mental Retardation, X-Linked - therapy | alpha-Thalassemia - therapy | Mutation - genetics | Syndrome | Pregnancy | Rare Diseases - therapy | Abnormalities, Multiple - diagnosis | alpha-Thalassemia - blood | Bone and Bones - abnormalities | Prenatal Diagnosis - methods | Genetic Carrier Screening
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5. Full Text Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1
by Guy, Michael P and Shaw, Marie and Weiner, Catherine L and Hobson, Lynne and Stark, Zornitza and Rose, Katherine and Kalscheuer, Vera M and Gecz, Jozef and Phizicky, Eric M
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1176 - 1187
tRNA modifications are crucial for efficient and accurate protein synthesis, and modification defects are frequently associated with disease. Yeast trm7Δ... 
NSXLID | 2 | tRNA | methylation | FTSJ1 | intellectual disability | TRM7 | Intellectual disability | 2′-O-methylation | TRNA | RAPID TRANSFER-RNA | MITOCHONDRIAL TRNA(LYS) | ADENOSINE-DEAMINASE | WOBBLE NUCLEOTIDE | MATURE TRANSFER-RNA | SPLICING MUTATION | ELONGATOR COMPLEX | YEAST SACCHAROMYCES-CEREVISIAE | FAMILIAL DYSAUTONOMIA | GENETICS & HEREDITY | 2 '-O-methylation | SYNDROMIC MENTAL-RETARDATION | Saccharomyces cerevisiae - genetics | Humans | Methyltransferases - genetics | Male | Saccharomyces cerevisiae - metabolism | Mental Retardation, X-Linked - genetics | Codon | Mental Retardation, X-Linked - diagnosis | RNA, Transfer - genetics | Female | Nuclear Proteins - genetics | Nucleic Acid Conformation | RNA, Transfer - chemistry | Anticodon | RNA, Transfer, Phe - metabolism | Amino Acid Sequence | Cell Line | Methyltransferases - chemistry | Gene Expression | RNA, Transfer - metabolism | RNA, Transfer, Phe - genetics | Models, Molecular | Genotype | Nuclear Proteins - chemistry | Pedigree | Alleles | Protein Conformation | Mutation | Methylation | Amino Acid Substitution | Genetic disorders | Ribonucleic acid--RNA | Intellectual disabilities
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6. Full Text Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
by Brouwer, A.P.M. de and Yntema, H.G and Kleefstra, T and Lugtenberg, D and Oudakker, A.R and Vries, B. de and Bokhoven, J.H.L.M. van and Esch, H. van and Frints, S.G and Froyen, G and Fryns, J.P and Raynaud, M and Moizard, M.P and Ronce, N and Bensalem, A and Moraine, C and Poirier, K and Castelnau, L and Saillour, Y and Bienvenu, T and Beldjord, C and Portes, V. des and Chelly, J and Turner, G and Fullston, T and Gecz, J and Kuss, A.W and Tzschach, A and Jensen, L.R and Lenzner, S and Kalscheuer, V.M.M and Ropers, H.H and Hamel, B.C.J
Human Mutation, ISSN 1059-7794, 2007, Volume 28, Issue 2, pp. 207 - 208
The EuroMRX family cohort consists of about 400 families with non-syndromic and 200 families with syndromic X-linked mental retardation (XLMR). After exclusion... 
brother pair families | mutation frequency | mental retardation | MRX | MRXS | X chromosome | GENETICS & HEREDITY | Mental Retardation, X-Linked - genetics | Phenotype | DNA Mutational Analysis | Genes | Humans | Mental Retardation, X-Linked - diagnosis | Female | Male | Mutation | Lod Score | Cohort Studies | Neuroscience | Cognitive science
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7. Full Text Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
by Koolen, D.A and Pfundt, R.P and Leeuw, N. de and Hehir-Kwa, J.Y and Nillesen, W.M and Neefs, I and Scheltinga, I and Sistermans, E.A and Smeets, D.F.C.M and Brunner, H.G and Geurts van Kessel, A.H.M and Veltman, J.A and Vries, L.B.A. de
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 3, pp. 283 - 292
Microarray-based copy number analysis has found its way into routine clinical practice, predominantly for the diagnosis of patients with unexplained mental... 
CNV | Copy number variation | Intellectual disability | Microarray | Mental retardation | Array CGH | RECOGNIZABLE PHENOTYPE | array CGH | 15Q24 MICRODELETION SYNDROME | HYBRIDIZATION ARRAY-CGH | DEVELOPMENTAL DELAY | CONGENITAL-ANOMALIES | COPY-NUMBER VARIATION | mental retardation | microarray | CHROMOSOME REARRANGEMENTS | copy number variation | CORPUS-CALLOSUM | GENETICS & HEREDITY | DYSMORPHIC FEATURES | intellectual disability | CRITICAL REGION | Genetic Predisposition to Disease | Mental Retardation, X-Linked - genetics | Reproducibility of Results | Humans | Intellectual Disability - diagnosis | Mental Retardation, X-Linked - diagnosis | Chromosome Aberrations | Gene Dosage | Genome-Wide Association Study - methods | Intellectual Disability - genetics
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8. Full Text Creatine biosynthesis and transport in health and disease
by Joncquel-Chevalier Curt, Marie and Voicu, Pia-Manuela and Fontaine, Monique and Dessein, Anne-Frédérique and Porchet, Nicole and Mention-Mulliez, Karine and Dobbelaere, Dries and Soto-Ares, Gustavo and Cheillan, David and Vamecq, Joseph
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine... 
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Life Sciences
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