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1. Full Text A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
by Wieczorek, Dagmar and Bögershausen, Nina and Beleggia, Filippo and Steiner-Haldenstätt, Sabine and Pohl, Esther and Li, Yun and Milz, Esther and Martin, Marcel and Thiele, Holger and Altmüller, Janine and Alanay, Yasemin and Kayserili, Hülya and Klein-Hitpass, Ludger and Böhringer, Stefan and Wollstein, Andreas and Albrecht, Beate and Boduroglu, Koray and Caliebe, Almuth and Chrzanowska, Krystyna and Cogulu, Ozgur and Cristofoli, Francesca and Czeschik, Johanna Christina and Devriendt, Koenraad and Dotti, Maria Teresa and Elcioglu, Nursel and Gener, Blanca and Goecke, Timm O and Krajewska-Walasek, Małgorzata and Guillén-Navarro, Encarnación and Hayek, Joussef and Houge, Gunnar and Kilic, Esra and Simsek-Kiper, Pelin Özlem and López-González, Vanesa and Kuechler, Alma and Lyonnet, Stanislas and Mari, Francesca and Marozza, Annabella and Dramard, Michèle Mathieu and Mikat, Barbara and Morin, Gilles and Morice-Picard, Fanny and Özkinay, Ferda and Rauch, Anita and Renieri, Alessandra and Tinschert, Sigrid and Eda Utine, G and Vilain, Catheline and Vivarelli, Rossella and Zweier, Christiane and Nürnberg, Peter and Rahmann, Sven and Vermeesch, Joris and Lüdecke, Hermann-Josef and Zeschnigk, Michael and Wollnik, Bernd
Human molecular genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5121 - 5135
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Abnormalities, Multiple - pathology | Face - abnormalities | Humans | Hypotrichosis - genetics | Child, Preschool | Chromatin Assembly and Disassembly - genetics | Foot Deformities, Congenital - genetics | Infant | Male | Mutation, Missense | Micrognathism - pathology | Intellectual Disability - genetics | SMARCB1 Protein | Karyotyping | Facies | Adult | Female | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Foot Deformities, Congenital - pathology | Face - pathology | Micrognathism - genetics | Intellectual Disability - pathology | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | Exome - genetics | Hand Deformities, Congenital - genetics | Neck - pathology | Adolescent | High-Throughput Nucleotide Sequencing | Hypotrichosis - pathology | Hand Deformities, Congenital - pathology | Sequence Deletion - genetics | Index Medicus
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2. Full Text The genetics of cognitive epigenetics
by Kleefstra, Tjitske and Schenck, Annette and Kramer, Jamie M and van Bokhoven, Hans
Neuropharmacology, ISSN 0028-3908, 05/2014, Volume 80, pp. 83 - 94
Genetic | Chromatin | Intellectual disability | Cognitive disorder | Epigenetic | Mutation | Pharmacology & Pharmacy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epigenesis, Genetic | Humans | Brain - enzymology | Cognition Disorders - metabolism | Foot Deformities, Congenital - genetics | Foot Deformities, Congenital - metabolism | Cognition | Intellectual Disability - metabolism | Brain - metabolism | Chromosomes, Human, Pair 9 - genetics | Heart Defects, Congenital - genetics | Micrognathism - metabolism | Facies | Neurons - metabolism | Hypotrichosis - metabolism | Neck - physiopathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Micrognathism - physiopathology | Chromosome Deletion | Micrognathism - genetics | Chromatin Assembly and Disassembly | Neck - abnormalities | Abnormalities, Multiple - physiopathology | Chromosomes, Human, Pair 9 - metabolism | Hand Deformities, Congenital - physiopathology | Models, Biological | Neurons - enzymology | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Abnormalities, Multiple - metabolism | Face - abnormalities | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Cognition Disorders - etiology | Foot Deformities, Congenital - physiopathology | Hand Deformities, Congenital - metabolism | Craniofacial Abnormalities - metabolism | Gene Expression Regulation | Cognition Disorders - genetics | Nerve Tissue Proteins - genetics | Face - physiopathology | Intellectual Disability - physiopathology | Nerve Tissue Proteins - metabolism | Animals | Hand Deformities, Congenital - genetics | Genetic aspects | Genetic transcription | Gene mutations | Genes | Index Medicus
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3. Full Text Multiple synostoses syndrome: Clinical report and retrospective analysis
by Pan, Zhaoyu and Lu, Wei and Li, Xiaohong and Huang, Shasha and Dai, Pu and Yuan, Yongyi
American journal of medical genetics. Part A, ISSN 1552-4825, 06/2020, Volume 182, Issue 6, pp. 1438 - 1448
conductive hearing loss | multiple synostoses syndrome | NOG | proximal symphalangism | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Stapes - abnormalities | Tarsal Bones - abnormalities | Humans | Child, Preschool | Foot Deformities, Congenital - genetics | Male | Synostosis - genetics | Ankylosis - genetics | Mutation, Missense - genetics | Synostosis - complications | Ankylosis - epidemiology | Tarsal Bones - pathology | Ankylosis - complications | Female | Foot Deformities, Congenital - complications | Hearing Loss, Conductive - epidemiology | Toes - pathology | Child | Carpal Bones - pathology | Foot Deformities, Congenital - epidemiology | Foot Deformities, Congenital - pathology | Ankylosis - pathology | Carpal Bones - abnormalities | Genetic Predisposition to Disease | Hand Deformities, Congenital - complications | Hand Deformities, Congenital - epidemiology | Toe Phalanges - abnormalities | Genetic Association Studies | Hearing Loss, Conductive - pathology | China - epidemiology | Synostosis - pathology | Toe Phalanges - pathology | Whole Exome Sequencing | Carrier Proteins - genetics | Phenotype | Hand Deformities, Congenital - genetics | Pedigree | Hearing Loss, Conductive - genetics | Hearing Loss, Conductive - complications | Toes - abnormalities | Stapes - pathology | Synostosis - epidemiology | Hand Deformities, Congenital - pathology | Deafness | Phenotypes | Dysostosis | Hearing impairment | NOG gene | Genetic screening | Hereditary diseases | Hearing loss | Literature reviews | Genotype & phenotype | Missense mutation | Mutation | Symphalangia | Diagnosis | Genotypes | Index Medicus
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4. Full Text Genetic regulatory pathways of split‐hand/foot malformation
by Kantaputra, Piranit N and Carlson, Bruce M
Clinical genetics, ISSN 0009-9163, 01/2019, Volume 95, Issue 1, pp. 132 - 139
SHFM | ectrodactyly | lobster claw deformity | malformation of limb | oligodactyly | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Gene Expression Regulation - genetics | Humans | Foot Deformities, Congenital - genetics | Syndactyly - pathology | Homeodomain Proteins - genetics | Hand Deformities, Congenital - genetics | Wnt Signaling Pathway - genetics | Mutation | Fibroblast Growth Factor 8 - genetics | Bone Morphogenetic Proteins - genetics | Hand Deformities, Congenital - pathology | Foot Deformities, Congenital - pathology | Limb Deformities, Congenital - pathology | Syndactyly - genetics | Genetic research | Cell death | Fibroblast growth factors | Signal transduction | Wnt protein | Hedgehog protein | Syndactyly | Fibroblast growth factor 8 | Fibroblast growth factor receptor 1 | Feet | Apoptosis | Index Medicus
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5. Full Text Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
by Pascolini, Giulia and Valiante, Michele and Bottillo, Irene and Laino, Luigi and Fleischer, Nicole and Ferraris, Alessandro and Grammatico, Paola
European journal of medical genetics, ISSN 1769-7212, 03/2020, Volume 63, Issue 3, pp. 103739 - 103739
Intellectual disability (ID) | Nicolaides-Baraitser syndrome (NCBRS) | Coffin-Siris syndrome (CSS) | ARID1B gene | 6q25.3 microdeletion | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Sequence Deletion | Neck - diagnostic imaging | Twins, Monozygotic - genetics | Face - abnormalities | Humans | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Foot Deformities, Congenital - genetics | Male | Mutation, Missense | Micrognathism - pathology | Intellectual Disability - genetics | RNA Splicing | Facies | Foot Deformities, Congenital - physiopathology | Neck - physiopathology | Abnormalities, Multiple - genetics | Foot Deformities, Congenital - pathology | Micrognathism - physiopathology | Hand Deformities, Congenital - diagnostic imaging | Hypotrichosis - diagnostic imaging | Intellectual Disability - diagnostic imaging | Face - pathology | Micrognathism - genetics | Intellectual Disability - pathology | Abnormalities, Multiple - diagnostic imaging | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Micrognathism - diagnostic imaging | Neck - pathology | Face - diagnostic imaging | Foot Deformities, Congenital - diagnostic imaging | Hypotrichosis - pathology | Hand Deformities, Congenital - pathology | Index Medicus
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6. Full Text Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
by Klopocki, Eva and Hennig, Bianca P and Dathe, Katarina and Koll, Randi and de Ravel, Thomy and Baten, Emiel and Blom, Eveline and Gillerot, Yves and Weigel, Johannes F.W and Krüger, Gabriele and Hiort, Olaf and Seemann, Petra and Mundlos, Stefan
American journal of human genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 434 - 439
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Limb Deformities, Congenital - genetics | Sequence Deletion | Growth Disorders - pathology | Humans | Foot Deformities, Congenital - genetics | Male | Mutation, Missense | Genes, Dominant | Female | Parathyroid Hormone-Related Protein - deficiency | Disease Models, Animal | Foot Deformities, Congenital - pathology | Recombinant Proteins - metabolism | Parathyroid Hormone-Related Protein - genetics | Cells, Cultured | Recombinant Proteins - genetics | Codon, Nonsense | Chick Embryo | Mice, Knockout | Point Mutation | Phenotype | Animals | Hand Deformities, Congenital - genetics | Pedigree | Mice | Mutation | Growth Disorders - genetics | Hand Deformities, Congenital - pathology | Limb Deformities, Congenital - pathology | Chromosome deletion | Research | Gene mutations | Parathyroid hormone | Proteins | Cell culture | Bones | Hormones | Anatomy & physiology | Gene expression | Index Medicus | Report
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7. Full Text TCTN3 Mutations Cause Mohr-Majewski Syndrome
by Thomas, Sophie and Legendre, Marine and Saunier, Sophie and Bessières, Bettina and Alby, Caroline and Bonnière, Maryse and Toutain, Annick and Loeuillet, Laurence and Szymanska, Katarzyna and Jossic, Frédérique and Gaillard, Dominique and Yacoubi, Mohamed Tahar and Mougou-Zerelli, Soumaya and David, Albert and Barthez, Marie-Anne and Ville, Yves and Bole-Feysot, Christine and Nitschke, Patrick and Lyonnet, Stanislas and Munnich, Arnold and Johnson, Colin A and Encha-Razavi, Férechté and Cormier-Daire, Valérie and Thauvin-Robinet, Christel and Vekemans, Michel and Attié-Bitach, Tania
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 372 - 378
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Fetus - pathology | Hedgehog Proteins - metabolism | Molecular Sequence Data | Foot Deformities, Congenital - genetics | Cleft Palate - genetics | Cerebellum - abnormalities | Young Adult | Base Sequence | Child | Intracellular Signaling Peptides and Proteins - genetics | Foot Deformities, Congenital - pathology | Membrane Proteins - genetics | Orofaciodigital Syndromes - genetics | Signal Transduction - genetics | Mutation - genetics | Sequence Analysis, DNA | Cerebellum - pathology | Orofaciodigital Syndromes - pathology | Homozygote | Exome - genetics | Phenotype | Hand Deformities, Congenital - genetics | Cleft Palate - pathology | Adolescent | Hand Deformities, Congenital - pathology | Proteins | Genotype & phenotype | Signal transduction | Genetic disorders | Mutation | Genomics | Index Medicus | Brain | Orofaciodigital syndrome | Congenital defects | Fetuses | Brain mapping | Data processing | Rib | Neurodevelopmental disorders | Kidney | Oral cavity | Missense mutation | Hedgehog protein | Polydactyly | Bone dysplasia | Report
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8. Full Text Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
by Williams, Stephen R and Aldred, Micheala A and Der Kaloustian, Vazken M and Halal, Fahed and Gowans, Gordon and McLeod, D. Ross and Zondag, Sara and Toriello, Helga V and Magenis, R. Ellen and Elsea, Sarah H
American journal of human genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 219 - 228
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Child, Preschool | Molecular Sequence Data | Intellectual Disability - complications | Developmental Disabilities - genetics | Intellectual Disability - genetics | Haploidy | DNA Mutational Analysis | Developmental Disabilities - enzymology | Base Sequence | Gene Deletion | Intellectual Disability - enzymology | Adult | Female | Behavior | Child | Infant, Newborn | Hand Deformities, Congenital - diagnostic imaging | Hand Deformities, Congenital - complications | Histone Deacetylases - genetics | Repressor Proteins - genetics | Syndrome | Pregnancy | Radiography | Hand Deformities, Congenital - enzymology | Hand Deformities, Congenital - genetics | Adolescent | Developmental Disabilities - complications | Psychological aspects | Gene mutations | Analysis | Histones | Genetic aspects | Chromosome deletion | Research | Brachydactyly | Proteins | Genetics | Mental retardation | Chromosomes | Rodents | Genes | Index Medicus
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