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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
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus
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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 Institutionen för kliniska vetenskaper 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 Institute of Clinical Sciences
American journal of human genetics, ISSN 0002-9297, 04/2008, Volume 82, Issue 4, pp. 1003 - 1010
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Intellectual deficiency | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | 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) | Mental retardation | Genes | Neurological disorders | Genetic linkage | Index Medicus | 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 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
NSXLID | 2′‐O‐methylation | tRNA | FTSJ1 | intellectual disability | TRM7 | Intellectual disability | 2′-O-methylation | TRNA | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus
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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
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | 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 | Index Medicus
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5. Full Text Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
by Lubs, Herbert A and Stevenson, Roger E and Schwartz, Charles E
American journal of human genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 579 - 590
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Fragile X Syndrome - genetics | Fragile X Syndrome - history | History, 21st Century | Genes, X-Linked - genetics | History, 20th Century | Humans | Male | Intellectual Disability - genetics | Intellectual Disability - history | Chromosome Mapping - methods | Fragile X Syndrome - psychology | Chromosome Mapping - history | Female | Mutation | Causes of | Genetic disorders | Research | Genetic variation | X chromosome | Genetics | Learning disabilities | Medical diagnosis | Genomics | Gametes | Prenatal diagnosis | Fragile X syndrome | Mental retardation | Reclassification | Index Medicus | Review
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6. Full Text X linked mental retardation: a clinical guide
by Raymond, F L
Journal of medical genetics, ISSN 0022-2593, 03/2006, Volume 43, Issue 3, pp. 193 - 200
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cardiology. Vascular system | General aspects. Genetic counseling | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Intellectual deficiency | Biological and medical sciences | Medical sciences | Chromosomes, Human, X | Diagnosis, Differential | Cerebellar Ataxia - genetics | Intelligence | Humans | Intellectual Disability - diagnosis | Intellectual Disability - psychology | Chromosome Mapping | Genetic Markers | Intellectual Disability - genetics | Relapse | Analysis | X chromosome | Genetic aspects | Fragile X syndrome | Diagnosis | Risk factors | Diseases | Genotype & phenotype | Skills | Intellectual disabilities | Genes | Classification | Population | Thyroid gland | Mutation | Family medical history | Males | Chromosomes | Index Medicus | X linked mental retardation | XLMR | mental retardation | X linked | recurrence risks | Review
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7. Full Text Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
by Friesema, Edith CH and Grueters, Annette and Biebermann, Heike and Krude, Heiko and von Moers, Arpad and Reeser, Maarten and Barrett, Timothy G and Mancilla, Edna E and Svensson, Johan and Kester, Monique HA and Kuiper, George GJM and Balkassmi, Sahila and Uitterlinden, André G and Koehrle, Josef and Rodien, Patrice and Halestrap, Andrew P and Visser, Theo J
The Lancet (British edition), ISSN 0140-6736, 10/2004, Volume 364, Issue 9443, pp. 1435 - 1437
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Humans | Child, Preschool | Infant | Male | Mutation, Missense | Intellectual Disability - genetics | Intellectual Disability - blood | Triiodothyronine - blood | Monocarboxylic Acid Transporters - metabolism | Psychomotor Disorders - genetics | Triiodothyronine - metabolism | Gene Deletion | Genetic Diseases, X-Linked - genetics | Monocarboxylic Acid Transporters - genetics | Mutation | Psychomotor Disorders - blood | Child | Physiological aspects | Genetic aspects | Diagnosis | Thyroid hormones | Psychomotor disorders | Developmentally disabled children | Gene mutations | Analysis | X chromosome | Causes of | Research | Health aspects | Clinical trials | Boys | Thyroid gland | Mental retardation | Intellectual disabilities | Exons | Genes | Hypothyroidism | Metabolism | Patients | Gene sequencing | Missense mutation | Coding | Triiodothyronine | Transporter | Thyroid | Index Medicus | Abridged Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
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