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Journal of Medical Genetics, ISSN 0022-2593, 10/2015, Volume 53, Issue 2, pp. 98 - 110
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2017, Volume 101, Issue 6, pp. 1021 - 1033
Journal Article
by Rainger, Joe and Rainger, Jacqueline K and Pehlivan, Davut and Johansson, Stefan and Bengani, Hemant and Sanchez-Pulido, Luis and Williamson, Kathleen A and Ture, Mehmet and Barker, Heather and Rosendahl, Karen and Spranger, Jürgen and Horn, Denise and Meynert, Alison and Floyd, Jamie and Floyd, James A.B and Prescott, Trine and Anderson, Carl and Anderson, Carl A and Karaca, Ender and Gonzaga-Jauregui, Claudia and Jhangiani, Shalini and Muzny, Donna M and Seawright, Anne and Soares, Dinesh C and Kharbanda, Mira and Murday, Victoria and Finch, Andrew and Hurles, Matthew E and Hurles, Matthew and FitzPatrick, David R and FitzPatrick, David R and Al-Turki, Saeed and Barroso, Inês and Beales, Philip and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebhattin and Cosgrove, Catherine and Daly, Allan and Franklin, Chris and Futema, Marta and Humphries, Steve and McCarthy, Shane and Mitchison, Hannah and Muntoni, Francesco and Onoufriadis, Alexandros and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David and Scambler, Peter and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Wood, Gretta and Gibbs, Richard A and van Heyningen, Veronica and Taylor, Martin S and Yakut, Tahsin and Knappskog, Per M and Ponting, Chris P and Lupski, James R and Houge, Gunnar and UK10K and Baylor-Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 915 - 923
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 5, pp. e10565 - e10565
Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe... 
CONGENITAL DIAPHRAGMATIC-HERNIA | MENTAL-RETARDATION | COPY-NUMBER | HEART-DEFECTS | ARRAY-CGH | CANDIDATE GENES | MUTATION | BIOLOGY | ENDOPLASMIC-RETICULUM | COMPARATIVE GENOMIC HYBRIDIZATION | EXPRESSION | Eye - pathology | Oligonucleotide Array Sequence Analysis | Microphthalmos - genetics | Protein Disulfide-Isomerases - metabolism | Homeodomain Proteins - metabolism | Humans | Coloboma - genetics | Molecular Sequence Data | Infant | Male | Microphthalmos - pathology | RNA, Messenger - metabolism | Anophthalmos - genetics | Coloboma - pathology | In Situ Hybridization | DNA Mutational Analysis | Larva - drug effects | Base Pairing - genetics | Base Sequence | Eye - drug effects | Oligonucleotides, Antisense - pharmacology | RNA, Messenger - genetics | Gene Expression Regulation, Developmental - drug effects | Eye - growth & development | Zebrafish - genetics | Organ Size - drug effects | Phenotype | Protein Disulfide-Isomerases - genetics | Animals | LIM-Homeodomain Proteins | Mice | Transcription Factors | Sequence Deletion - genetics | Medicine, Experimental | Medical research | Birth defects | Gene expression | Genes | Glutamine | Pediatrics | Larvae | Transcription factors | Congenital defects | Pathogenesis | Families & family life | Antisense | Retina | Genomes | Hybridization | Neurogenesis | Eye | Morphogenesis | Clonal deletion | Coinjection | Deletion | Genetics | Physiology | Ganglion cells | Chromosome 18 | Phenotypes | Optic nerve | Fertilization | Albinism | Dermatology | Zebrafish | Chromosome deletion | Artificial chromosomes | Injection | Anatomy & physiology | Epithelium | Patients | Haploinsufficiency | Retinal ganglion cells | Islet-1 protein | Hernias | Anophthalmia | Mutation | Microphthalmia | Apoptosis | Eye lens | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2006, Volume 43, Issue 4, pp. 306 - 314
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 685 - 688
Journal Article
PLoS genetics, ISSN 1553-7390, 2011, Volume 7, Issue 7, pp. e1002114 - e1002114
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, pp. e60274 - e60274
Background: The Coloboma mouse carries a similar to 2 cM deletion encompassing the SNAP25 gene and has a hyperactive phenotype similar to that of ADHD. Such... 
MOUSE MUTANT COLOBOMA | ATTENTION | POLYMORPHISMS | SNARE COMPLEX | DEFICIT HYPERACTIVITY DISORDER | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | CANDIDATE GENE | IDENTIFICATION | SNAP-25 GENE | GENOME-WIDE ASSOCIATION | Synaptosomal-Associated Protein 25 - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Risk Factors | Linkage Disequilibrium - genetics | Male | Prefrontal Cortex - pathology | DNA - genetics | Haplotypes - genetics | Animals | Attention Deficit Disorder with Hyperactivity - genetics | Prefrontal Cortex - metabolism | Polymorphism, Single Nucleotide - genetics | Adult | Mice | Synaptosomal-Associated Protein 25 - metabolism | Child | Brain | Genes | DNA | Attention-deficit hyperactivity disorder | Genetic research | Genetic aspects | Single nucleotide polymorphisms | Risk factors | Haplotypes | Attention deficit disorder | Transcription | Hyperactivity | Families & family life | Association analysis | Risk | Genomes | Single-nucleotide polymorphism | Gene deletion | Proteins | Clonal deletion | Cortex (frontal) | Deletion | Active control | Deoxyribonucleic acid--DNA | Cortex (prefrontal) | Dopamine | Attention deficit hyperactivity disorder | Gene expression | Frontal gyrus | Children & youth | Alleles | SNAP-25 protein | Adults | Mutation | Psychiatry | Binding sites | Index Medicus | Deoxyribonucleic acid
Journal Article