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1. Full Text Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study
by Meador, Kimford J, Prof and Baker, Gus A, PhD and Browning, Nancy, PhD and Cohen, Morris J, EdD and Bromley, Rebecca L, PhD and Clayton-Smith, Jill, MD and Kalayjian, Laura A, MD and Kanner, Andres, MD and Liporace, Joyce D, MD and Pennell, Page B, MD and Privitera, Michael, MD and Loring, David W, PhD and for the NEAD Study Group and NEAD Study Grp and NEAD Study Group
Lancet neurology, ISSN 1474-4422, 2013, Volume 12, Issue 3, pp. 244 - 252
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epilepsy - psychology | Prospective Studies | Triazines - therapeutic use | Humans | Anticonvulsants - therapeutic use | Child, Preschool | Infant | Male | Prenatal Exposure Delayed Effects - physiopathology | Cognition - drug effects | Pregnancy Complications - drug therapy | Pregnancy | Anticonvulsants - adverse effects | Phenytoin - therapeutic use | Phenytoin - adverse effects | Observation - methods | Adult | Epilepsy - drug therapy | Female | Triazines - adverse effects | Child Development - drug effects | Child | Infant, Newborn | Prenatal Exposure Delayed Effects - chemically induced | Drugs | Anticonvulsants | Index Medicus | Intelligence | lamotrigine | Epilepsy | Fetuses | Cognitive ability | Antiepileptic agents | Valproic acid | Carbamazepine | Folic acid | Children | Age | Phenytoin
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2. Full Text Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs
by Meador, Kimford J and Baker, Gus A and Browning, Nancy and Clayton-Smith, Jill and Combs-Cantrell, Deborah T and Cohen, Morris and Kalayjian, Laura A and Kanner, Andres and Liporace, Joyce D and Pennell, Page B and Privitera, Michael and Loring, David W and NEAD Study Grp and NEAD Study Group
The New England journal of medicine, ISSN 0028-4793, 04/2009, Volume 360, Issue 16, pp. 1597 - 1605
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Anticonvulsants. Antiepileptics. Antiparkinson agents | Medical sciences | Neuropharmacology | Pharmacology. Drug treatments | Prospective Studies | Humans | Child, Preschool | Cognition - drug effects | Prenatal Exposure Delayed Effects - diagnosis | Intelligence Tests | Developmental Disabilities - chemically induced | Pregnancy Complications - drug therapy | Dose-Response Relationship, Drug | Neuropsychological Tests | Pregnancy | Regression Analysis | Anticonvulsants - adverse effects | Carbamazepine - adverse effects | Phenytoin - adverse effects | Adult | Epilepsy - drug therapy | Female | Triazines - adverse effects | Intelligence - drug effects | Valproic Acid - adverse effects | Developmental Disabilities - diagnosis | Prenatal Exposure Delayed Effects - chemically induced | Complications and side effects | Anticonvulsants | Pregnant women | Growth | Epilepsy | Physiological aspects | Fetus | Drug therapy | Health aspects | Risk factors | Drug abuse | Womens health | Minority & ethnic groups | Drug use | Children & youth | Alcohol use | Index Medicus | Abridged Index Medicus
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3. Full Text Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome
by Urquhart, Jill E and Williams, Simon G and Bhaskar, Sanjeev S and Bowers, Naomi and Clayton-Smith, Jill and Newman, William G
Journal of human genetics, ISSN 1434-5161, 12/2015, Volume 60, Issue 12, pp. 781 - 785
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Eczema - genetics | Microcephaly - genetics | Twins, Monozygotic - genetics | Growth Disorders - pathology | Humans | Intellectual Disability - pathology | Male | Intellectual Disability - genetics | Chromosomes, Human, Pair 19 - genetics | Base Sequence | Microcephaly - pathology | Alleles | Eczema - pathology | Facies | Adult | Growth Disorders - genetics | Phenotypes | Congenital diseases | Intellectual disabilities | Genes | Science | Genomes | Heredity | Microcephaly | Hereditary diseases | Genotype & phenotype | Microencephaly | Eczema | Genetics | Learning disabilities | Age | Index Medicus
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4. Full Text Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
by Jenkinson, Emma M and Rehman, Atteeq U and Walsh, Tom and Clayton-Smith, Jill and Lee, Kwanghyuk and Morell, Robert J and Drummond, Meghan C and Khan, Shaheen N and Naeem, Muhammad Asif and Rauf, Bushra and Billington, Neil and Schultz, Julie M and Urquhart, Jill E and Lee, Ming K and Berry, Andrew and Hanley, Neil A and Mehta, Sarju and Cilliers, Deirdre and Clayton, Peter E and Kingston, Helen and Smith, Miriam J and Warner, Thomas T and Black, Graeme C and Trump, Dorothy and Davis, Julian R.E and Ahmad, Wasim and Leal, Suzanne M and Riazuddin, Sheikh and King, Mary-Claire and Friedman, Thomas B and Newman, William G and University of Washington Center for Mendelian Genomics and Univ Washington
American journal of human genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 605 - 613
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondria - enzymology | ATP-Dependent Proteases - genetics | Humans | Endopeptidase Clp - genetics | Male | Mutation - genetics | Genes, Recessive | Young Adult | Homozygote | Exome - genetics | Phenotype | In Situ Hybridization | Mitochondria - genetics | Pedigree | Adenosine Triphosphate - metabolism | Hearing Loss, Sensorineural - etiology | Adolescent | Gonadal Dysgenesis, 46,XX - etiology | Adult | Female | ATP-Dependent Proteases - metabolism | Mitochondrial biogenesis | Gene mutations | Analysis | Research | Nucleotide sequencing | Protein-protein interactions | DNA sequencing | Deafness | Proteases | Ligases | Proteolysis | Genomics | Medical genetics | Genetic aspects | Transfer RNA | Signal transduction | Mitochondria | Congenital diseases | Homeostasis | Mutation | Adenosine triphosphatase | Index Medicus | Report
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5. Full Text Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2
by Sergouniotis, Panagiotis I and Urquhart, Jill E and Williams, Simon G and Bhaskar, Sanjeev S and Black, Graeme C and Lovell, Simon C and Whitby, David J and Newman, William G and Clayton-Smith, Jill
Journal of human genetics, ISSN 1434-5161, 04/2015, Volume 60, Issue 4, pp. 199 - 202
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Genetic Association Studies | Velopharyngeal Insufficiency - genetics | Humans | Models, Molecular | Male | Velopharyngeal Insufficiency - diagnosis | Reading Frames | Phenotype | Otx Transcription Factors - genetics | Pedigree | Abnormalities, Multiple - diagnosis | Adult | Female | Heterozygote | Protein Conformation | Mutation | Otx Transcription Factors - chemistry | Child | Abnormalities, Multiple - genetics | Hypoplasia | Mandible | Fetuses | Insertion | Genetic screening | Pregnancy | Homeobox | Progeny | Ear | Otx2 protein | Palate | Ultrasound | Deoxyribonucleic acid--DNA | DNA sequencing | Glutamine | Index Medicus
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6. Full Text Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
by Urquhart, Jill and Roberts, Rebecca and de Silva, Deepthi and Shalev, Stavit and Chervinsky, Elena and Nampoothiri, Sheela and Sznajer, Yves and Revencu, Nicole and Gunasekera, Romesh and Suri, Mohnish and Ellingford, Jamie and Williams, Simon and Bhaskar, Sanjeev and Clayton‐Smith, Jill
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2016, Volume 170, Issue 5, pp. 1216 - 1224
3MC syndrome | COLEC11 | Malpuech syndrome | Carnevale syndrome | Michels syndrome | MASP1 | Mingarelli syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Face - abnormalities | Humans | Hypertelorism - genetics | Child, Preschool | Infant | Male | Cleft Palate - genetics | Cleft Palate - physiopathology | Collectins - genetics | Eye Abnormalities - genetics | Face - physiopathology | Cleft Lip - genetics | Cleft Lip - physiopathology | Mannose-Binding Protein-Associated Serine Proteases - genetics | Adolescent | Eye Abnormalities - physiopathology | Female | Hypertelorism - physiopathology | Mutation | Sequence Analysis | Urogenital Abnormalities - physiopathology | Child | Urogenital Abnormalities - genetics | Medicine, Experimental | Medical research | Index Medicus
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7. Full Text Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child
by Weston, Jennifer and Bromley, Rebecca and Jackson, Cerian F and Adab, Naghme and Clayton‐Smith, Jill and Greenhalgh, Janette and Hounsome, Juliet and McKay, Andrew J and Tudur Smith, Catrin and Marson, Anthony G and Bromley, Rebecca
Cochrane library, ISSN 1469-493X, 11/2016, Volume 2017, Issue 4, pp. CD010224 - CD010224
Neural Tube Defects | Epilepsy | Pregnancy Complications | Epilepsy: drugs for broad populations | Drugs for broad populations | Musculoskeletal Abnormalities | Cardiovascular Abnormalities | Antiepileptic drugs in broad populations with epilepsy | Neurology | Anticonvulsants | Abnormalities, Drug‐Induced | Child health | Craniofacial Abnormalities | Medicine General & Introductory Medical Sciences | Antiepileptic drugs | Antiepileptic drugs in pregnancy | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Pregnancy | Anticonvulsants - adverse effects | Humans | Abnormalities, Drug-Induced - classification | Epilepsy - drug therapy | Female | Infant, Newborn | Pregnancy Complications - drug therapy | Index Medicus
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8. Full Text Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
by Gillespie, Rachel L., PhD and Urquhart, Jill, PhD and Anderson, Beverley, MSc and Williams, Simon, PhD and Waller, Sarah, PhD and Ashworth, Jane, FRCOphth and Biswas, Susmito, FRCOphth and Jones, Simon, MRCPCH and Stewart, Fiona, FRCPCH and Lloyd, I. Christopher, FRCOphth and Clayton-Smith, Jill, MD, FRCP and Black, Graeme C.M., DPhil, FRCOphth
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2016, Volume 123, Issue 1, pp. 217 - 220
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | DNA - genetics | Eye Proteins - metabolism | Cataract - congenital | Cataract - diagnosis | DNA Mutational Analysis | Humans | Cataract - genetics | Eye Proteins - genetics | Mutation | Child | Sequence Analysis, DNA - methods | Pediatrics | Cataract | Hospitals | Diagnosis | Children | Diseases | Index Medicus
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9. Full Text Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature
by Le Fevre, Anna and Beygo, Jasmin and Silveira, Cheryl and Kamien, Benjamin and Clayton‐Smith, Jill and Colley, Alison and Buiting, Karin and Dudding‐Byth, Tracy
American journal of medical genetics. Part A, ISSN 1552-4825, 03/2017, Volume 173, Issue 3, pp. 753 - 757
hyperphagia | Angelman syndrome | mosaic Angelman | atypical Angelman | imprinting center defect | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genomic Imprinting | Genetic Association Studies | Humans | Angelman Syndrome - diagnosis | Male | Chromosome Mapping | Genetic Heterogeneity | Incidence | DNA Methylation | Phenotype | Adolescent | Facies | Angelman Syndrome - genetics | Female | Mosaicism | snRNP Core Proteins - genetics | Child | Methylation | Analysis | Phenotypes | Intellectual disabilities | Case reports | Defects | Literature reviews | Uniparental disomy | Microencephaly | Imprinting | DNA methylation | Ataxia | Chromosome 15 | Ubiquitin-protein ligase | Hyperphagia | Seizures | Index Medicus
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