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1. Full Text The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
by Callaway, Jonathan L. A and Shaffer, Lisa G and Chitty, Lyn S and Rosenfeld, Jill A and Crolla, John A
Prenatal diagnosis, ISSN 0197-3851, 12/2013, Volume 33, Issue 12, pp. 1119 - 1123
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Pregnancy | Maternal Age | Microarray Analysis | Ultrasonography, Prenatal | Humans | Chromosome Aberrations | Female | Cytogenetic Analysis | Prenatal Diagnosis - methods | Karyotype | Cytogenetics | Pregnant women | Chromosomes | Index Medicus | Review
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2. Full Text 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients
by Barber, John C.K and Rosenfeld, Jill A and Foulds, Nicola and Laird, Sophie and Bateman, Mark S and Thomas, N. Simon and Baker, Samantha and Maloney, Viv K and Anilkumar, Arayamparambil and Smith, Wendy E and Banks, Valerie and Ellingwood, Sara and Kharbutli, Yara and Mehta, Lakshmi and Eddleman, Keith A and Marble, Michael and Zambrano, Regina and Crolla, John A and Lamb, Allen N
American journal of medical genetics. Part A, ISSN 1552-4825, 03/2013, Volume 161, Issue 3, pp. 487 - 500
pair 8 | candidate genes | DNA array | common features | chromosomes | chromosome duplication | variable penetrance | human | 8p23.1 | genomic disorder | Human | Genomic disorder | Common features | Variable penetrance | Candidate genes | Chromosome duplication | Chromosomes | Pair 8 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosomes, Human, Pair 8 - genetics | Learning Disorders - diagnosis | Humans | Infant | Male | Developmental Disabilities - genetics | Abnormal Karyotype | Syndrome | Trisomy - diagnosis | Trisomy - genetics | Comparative Genomic Hybridization | Abnormalities, Multiple - diagnosis | Adult | Female | Learning Disorders - genetics | Child | Developmental Disabilities - diagnosis | Abnormalities, Multiple - genetics | Genetic disorders | DNA microarrays | MicroRNA | Pregnant women | Analysis | Genes | Attention-deficit hyperactivity disorder | Medical genetics | Cytogenetics | Universities and colleges | Seizures (Medicine) | Heart diseases | Index Medicus | Attention deficit hyperactivity disorder
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3. Full Text 17q24.2 microdeletions: A new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
by Vergult, Sarah and Dauber, Andrew and Chiaie, Barbara Delle and Van Oudenhove, Elke and Simon, Marleen and Rihani, Ali and Loeys, Bart and Hirschhorn, Joel and Pfotenhauer, Jean and Phillips III, John A and Mohammed, Shehla and Ogilvie, Caroline and Crolla, John and Mortier, Geert and Menten, Björn
European journal of human genetics : EJHG, ISSN 1018-4813, 05/2012, Volume 20, Issue 5, pp. 534 - 539
17q24.2 deletion | mood swings | PRKCA | array CGH | hallucinations | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | 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 | Chromosome Deletion | Hallucinations - genetics | Irritable Mood | Seizures - genetics | Humans | Protein Kinase C-alpha - genetics | Child, Preschool | MicroRNAs - metabolism | Chromosomes, Human, Pair 17 - genetics | Syndrome | Intellectual Disability - genetics | Young Adult | Female | Obesity, Abdominal - genetics | Child | Obesity | Potassium channels (inwardly-rectifying) | Intellectual disabilities | MiRNA | Gene deletion | KCNJ2 gene | Carney complex | Hearing loss | Hearing | Mood | Clonal deletion | Hallucinations | Speech | Chromosome 17 | Seizures | Index Medicus | Chromosome deletion | Mental retardation | speech | miRNA | chromosome 17
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4. Full Text Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
by Moreno-De-Luca, Daniel and Mulle, Jennifer G and Kaminsky, Erin B and Sanders, Stephan J and Myers, Scott M and Adam, Margaret P and Pakula, Amy T and Eisenhauer, Nancy J and Uhas, Kim and Weik, LuAnn and Guy, Lisa and Care, Melanie E and Morel, Chantal F and Boni, Charlotte and Salbert, Bonnie Anne and Chandrareddy, Ashadeep and Demmer, Laurie A and Chow, Eva W.C and Surti, Urvashi and Aradhya, Swaroop and Pickering, Diane L and Golden, Denae M and Sanger, Warren G and Aston, Emily and Brothman, Arthur R and Gliem, Troy J and Thorland, Erik C and Ackley, Todd and Iyer, Ram and Huang, Shuwen and Barber, John C and Crolla, John A and Warren, Stephen T and Martin, Christa L and Ledbetter, David H and SGENE Consortium and GeneSTAR and Simons Simplex Collection Genetics Consortium and Simons Simplex Collection Genetics
American journal of human genetics, ISSN 0002-9297, 2010, Volume 87, Issue 5, pp. 618 - 630
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Phenotype | Schizophrenia - genetics | Chromosomes, Human, Pair 17 | Child Development Disorders, Pervasive - genetics | Humans | Facies | Child, Preschool | Female | Male | Child | DNA Copy Number Variations | Autism | Analysis | Schizophrenia | Nervous system | Genetic aspects | Chromosome deletion | Degeneration | Diabetes | Risk factors | Genetic polymorphisms | Brain | Genotype & phenotype | Kidneys | Cysts | Genomics | Patients | Neurological disorders | Developmental disabilities | Index Medicus
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5. Full Text Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort
by Baptista, Julia and Mercer, Catherine and Prigmore, Elena and Gribble, Susan M and Carter, Nigel P and Maloney, Viv and Thomas, N. Simon and Jacobs, Patricia A and Crolla, John A
American journal of human genetics, ISSN 0002-9297, 04/2008, Volume 82, Issue 4, pp. 927 - 936
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome aberrations | Chromosome Deletion | Translocation, Genetic | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | In Situ Hybridization, Fluorescence | Male | Chromosome Mapping | Phenotype | Karyotyping | Adolescent | Chromosome Disorders - diagnosis | Adult | Female | Child | Chromosome Breakage | Chromosome Disorders - genetics | Cohort Studies | Chromosome mapping | Chromosome abnormalities | Research | Human genome | Translocation (Genetics) | Analysis | Studies | Genotype & phenotype | Chromosomes | Genomics | Index Medicus
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6. Full Text Pallister-Killian syndrome: a study of 22 British patients
by Blyth, Moira and Maloney, Viv and Beal, Sarah and Collinson, Morag and Huang, Shuwen and Crolla, John and Temple, I Karen and Baralle, Diana
Journal of medical genetics, ISSN 0022-2593, 07/2015, Volume 52, Issue 7, pp. 454 - 464
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Chromosome Disorders - epidemiology | Chromosome Disorders - pathology | Humans | Intellectual Disability - pathology | In Situ Hybridization, Fluorescence | Tetrasomy - pathology | Intellectual Disability - genetics | Phenotype | Comparative Genomic Hybridization | Mosaicism | Tetrasomy - genetics | Chromosomes, Human, Pair 12 - genetics | United Kingdom - epidemiology | Abnormalities, Multiple - genetics | Chromosome Disorders - genetics | Pallister-Killian syndrome | Demographic aspects | Diagnosis | Studies | Medical research | Genotype & phenotype | Researchers | Laboratories | Intellectual disabilities | Cytogenetics | Chromosomes | Patients | Special education | Age | Index Medicus
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7. Full Text Newton E. Morton (1929–2018)
by Sherman, Stephanie L and Rao, D.C and Keats, Bronya J and Yee, Shirley and Spence, M. Anne and Hassold, Terry J and Chakravarti, Aravinda and Elston, Robert C and Crolla, John A and Ennis, Sarah and Risch, Neil
American journal of human genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1011 - 1017
Index Medicus
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8. Full Text SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development
by Kelberman, Daniel and de Castro, Sandra C. P and Huang, Shuwen and Crolla, John A and Palmer, Rodger and Gregory, John W and Taylor, David and Cavallo, Luciano and Faienza, Maria F and Fischetto, Rita and Achermann, John C and Martinez-Barbera, Juan Pedro and Rizzoti, Karine and Lovell-Badge, Robin and Robinson, Iain C. A. F and Gerrelli, Dianne and Dattani, Mehul T
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 05/2008, Volume 93, Issue 5, pp. 1865 - 1873
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Fundamental and applied biological sciences. Psychology | Feeding. Feeding behavior | Vertebrates: anatomy and physiology, studies on body, several organs or systems | Vertebrates: endocrinology | Biological and medical sciences | Endocrinopathies | Medical sciences | DNA-Binding Proteins - physiology | Transcription Factors - physiology | Signal Transduction | Humans | Hypopituitarism - etiology | RNA, Messenger - analysis | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Eye Abnormalities - genetics | Pituitary Gland - embryology | Eye - embryology | Adolescent | HMGB Proteins - genetics | HMGB Proteins - physiology | Eye Abnormalities - etiology | Adult | Female | beta Catenin - physiology | Hypopituitarism - genetics | Mutation | Prosencephalon - embryology | SOXB1 Transcription Factors | Child | Index Medicus | Abridged Index Medicus
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9. Full Text An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
by Kaminsky, Erin B and Kaul, Vineith and Paschall, Justin and Church, Deanna M and Bunke, Brian and Kunig, Dawn and Moreno-De-Luca, Daniel and Moreno-De-Luca, Andres and Mulle, Jennifer G and Warren, Stephen T and Richard, Gabriele and Compton, John G and Fuller, Amy E and Gliem, Troy J and Huang, Shuwen and Collinson, Morag N and Beal, Sarah J and Ackley, Todd and Pickering, Diane L and Golden, Denae M and Aston, Emily and Whitby, Heidi and Shetty, Shashirekha and Rossi, Michael R and Rudd, M. Katharine and South, Sarah T and Brothman, Arthur R and Sanger, Warren G and Iyer, Ramaswamy K and Crolla, John A and Thorland, Erik C and Aradhya, Swaroop and Ledbetter, David H and Martin, Christa L
Genetics in medicine, ISSN 1098-3600, 09/2011, Volume 13, Issue 9, pp. 777 - 784
ID/DD | evidence-based approach | clinical significance | consortium | CNVs | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Evidence-Based Medicine - methods | Humans | Developmental Disabilities - genetics | Gene Dosage | Cytogenetic Analysis | Genome, Human | DNA Copy Number Variations | Intellectual Disability - genetics | Index Medicus
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