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1. Full Text Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
by Bredrup, Cecilie and Saunier, Sophie and Oud, Machteld M and Fiskerstrand, Torunn and Hoischen, Alexander and Brackman, Damien and Leh, Sabine M and Midtbø, Marit and Filhol, Emilie and Bole-Feysot, Christine and Nitschké, Patrick and Gilissen, Christian and Haugen, Olav H and Sanders, Jan-Stephan F and Stolte-Dijkstra, Irene and Mans, Dorus A and Steenbergen, Eric J and Hamel, Ben C.J and Matignon, Marie and Pfundt, Rolph and Jeanpierre, Cécile and Boman, Helge and Rødahl, Eyvind and Veltman, Joris A and Knappskog, Per M and Knoers, Nine V.A.M and Roepman, Ronald and Arts, Heleen H
American journal of human genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Medical genetics | Nephrology. Urinary tract diseases | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Polycystic Kidney Diseases - genetics | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Mutation, Missense | Young Adult | Netherlands | Morocco | Adult | Female | Flagella - genetics | Child | Craniofacial Abnormalities - genetics | Fibroblasts - metabolism | Polycystic Kidney Diseases - congenital | Cilia - pathology | Short Rib-Polydactyly Syndrome - genetics | Cilia - genetics | Proteins - genetics | Exome - genetics | Flagella - pathology | Norway | Pedigree | Adolescent | Thoracic Diseases - genetics | Ectodermal Dysplasia - genetics | Genetic disorders | Mutation | Gene expression | Morphology | Cells | Index Medicus | Renal insufficiency | Missense mutation | Nephronophthisis | Nephropathy | Retinitis pigmentosa | Polydactyly | Fibroblasts | Abundance | Cilia | Jeune syndrome | Report
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2. Full Text XYLT1 Mutations in Desbuquois Dysplasia Type 2
by Bui, Catherine and Huber, Céline and Tuysuz, Beyhan and Alanay, Yasemin and Bole-Feysot, Christine and Leroy, Jules G and Mortier, Geert and Nitschke, Patrick and Munnich, Arnold and Cormier-Daire, Valérie
American journal of human genetics, ISSN 0002-9297, 03/2014, Volume 94, Issue 3, pp. 405 - 414
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pentosyltransferases - genetics | Genetic Predisposition to Disease | Polydactyly - genetics | Humans | Joint Instability - genetics | Proteoglycans - metabolism | Male | Pentosyltransferases - metabolism | Sequence Analysis, DNA | Microsatellite Repeats - genetics | Exome | Dwarfism - genetics | Homozygote | Bone and Bones - metabolism | Adolescent | Adult | Female | Consanguinity | Mutation | Ossification, Heterotopic - genetics | Child | DNA, Complementary - metabolism | Craniofacial Abnormalities - genetics | Fibroblasts - metabolism | Enzymes | Dysplasia | Genetic aspects | Health aspects | Mutation (Biology) | Cell culture | Biosynthesis | Genetic disorders | Genes | Index Medicus | Life Sciences | Genetics | Biomolecules | Biochemistry, Molecular Biology | Human genetics
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3. Full Text Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
by Dowdle, William E and Robinson, Jon F and Kneist, Andreas and Sirerol-Piquer, M. Salomé and Frints, Suzanna G.M and Corbit, Kevin C and Zaghloul, Norran A and van Lijnschoten, Gesina and Mulders, Leon and Verver, Dideke E and Zerres, Klaus and Reed, Randall R and Attié-Bitach, Tania and Johnson, Colin A and García-Verdugo, José Manuel and Katsanis, Nicholas and Bergmann, Carsten and Reiter, Jeremy F
American journal of human genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 94 - 110
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Malformations of the nervous system | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Polycystic Kidney Diseases - genetics | Amino Acid Sequence | NIH 3T3 Cells | Polydactyly - genetics | Signal Transduction | Humans | Mice, Inbred C57BL | RNA, Messenger - genetics | Molecular Sequence Data | RNA, Messenger - metabolism | Protein Transport - genetics | Zebrafish - genetics | Proteins - genetics | Homozygote | Phenotype | Animals | Proteins - metabolism | DNA Mutational Analysis | Mice | Mutation | Ciliary Motility Disorders - genetics | Encephalocele - genetics | Genetic Linkage | Neural Tube - abnormalities | Eye | Gene mutations | Causes of | Muscles | Physiological aspects | Genetic aspects | Meckel-Gruber syndrome | Diagnosis | Research | Proteins | Genotype & phenotype | Genetic disorders | Rodents | Index Medicus
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4. Full Text Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways
by Bakrania, Preeti and Efthymiou, Maria and Klein, Johannes C and Salt, Alison and Bunyan, David J and Wyatt, Alex and Ponting, Chris P and Martin, Angela and Williams, Steven and Lindley, Victoria and Gilmore, Joanne and Restori, Marie and Robson, Anthony G and Neveu, Magella M and Holder, Graham E and Collin, J Richard O and Robinson, David O and Farndon, Peter and Johansen-Berg, Heidi and Gerrelli, Dianne and Ragge, Nicola K
American journal of human genetics, ISSN 0002-9297, 2008, Volume 82, Issue 2, pp. 304 - 319
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Eye - metabolism | Bone Morphogenetic Protein 4 | Polydactyly - genetics | Humans | Electrophysiology | Hedgehog Proteins - metabolism | DNA Primers - genetics | Signal Transduction - genetics | Bone Morphogenetic Proteins - metabolism | Eye - embryology | In Situ Hybridization | Hedgehog Proteins - genetics | Chromosome Aberrations | Nervous System Malformations - genetics | Bone Morphogenetic Proteins - genetics | Chromosomes, Human, Pair 14 - genetics | Frameshift Mutation - genetics | Cohort Studies | Child development deviations | Bone morphogenetic proteins | Genetic aspects | Research | Structure | Developmental disabilities | Index Medicus
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5. 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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6. Full Text NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
by Thiel, Christian and Kessler, Kristin and Giessl, Andreas and Dimmler, Arno and Shalev, Stavit A and von der Haar, Sigrun and Zenker, Martin and Zahnleiter, Diana and Stöss, Hartmut and Beinder, Ernst and Abou Jamra, Rami and Ekici, Arif B and Schröder-Kreß, Nadja and Aigner, Thomas and Kirchner, Thomas and Reis, André and Brandstätter, Johann H and Rauch, Anita
American journal of human genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 106 - 114
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 | Cilia - physiology | NIMA-Related Kinase 1 | Severity of Illness Index | Humans | Cytoplasmic Dyneins - genetics | Protein-Serine-Threonine Kinases - genetics | Male | Short Rib-Polydactyly Syndrome - genetics | Chromosome Mapping | DNA Repair - genetics | Genes, Recessive | Sequence Analysis, DNA | Cilia - genetics | Radiography | Short Rib-Polydactyly Syndrome - diagnostic imaging | Phenotype | Cell Cycle Proteins - genetics | Female | Heterozygote | Short Rib-Polydactyly Syndrome - pathology | Mutation | Causes of | Cellular signal transduction | Genetic aspects | Research | Gene mutations | Short rib-polydactyly syndrome | Genotype & phenotype | Signal transduction | Genomics | Cell cycle | Kinases | DNA repair | Index Medicus | Report
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7. Full Text Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)
by Will, Anja J and Cova, Giulia and Osterwalder, Marco and Chan, Wing-Lee and Wittler, Lars and Brieske, Norbert and Heinrich, Verena and De Villartay, Jean-Pierre and Vingron, Martin and Klopocki, Eva and Visel, Axel and Lupianez, Darío G and Mundlos, Stefan
Nature genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1539 - 1545
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Regulatory Sequences, Nucleic Acid | Gene Expression Regulation, Developmental - genetics | Foot Deformities, Congenital - genetics | Hedgehog Proteins - physiology | Bone Diseases, Developmental - genetics | DNA-Binding Proteins - deficiency | DNA Copy Number Variations | Hedgehog Proteins - genetics | Base Sequence | Gene Deletion | Skull - abnormalities | Transcription, Genetic | Genes, Reporter | Hedgehog Proteins - deficiency | Osteogenesis - genetics | Polydactyly - genetics | Mice, Inbred C57BL | Gene Dosage | DNA-Binding Proteins - genetics | Gene Knockout Techniques | Sequence Analysis, DNA | Animals | Enhancer Elements, Genetic - genetics | Mice | Copy number variations | Abnormalities | Bones | Development and progression | Genetic aspects | Gene expression | Health aspects | Hedgehog proteins | Sequences | Copy number | Craniosynostosis | Transgenic | Genomes | Microcephaly | Dosage | Kinases | DNA repair | Studies | Enhancers | Developmental stages | Hedgehog protein | Rodents | Stem cells | Sutures | Syndactyly | Skull | Bioinformatics | Binding sites | Deoxyribonucleic acid--DNA | Index Medicus
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8. Full Text IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
by Tobin, Jonathan L and Irving, Melita and Hartley, Jane and Elcioglu, Nursel and Scambler, Peter J and Tuysuz, Beyhan and Bacchelli, Chiara and Johnson, Colin and Winey, Mark and Rix, Suzanne and Bland, Elizabeth and Pearson, Chad G and Hill, Josephine and Tada, Masazumi and Kai, Masatake and Beales, Philip L
Nature genetics, ISSN 1061-4036, 06/2007, Volume 39, Issue 6, pp. 727 - 729
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Asphyxia - genetics | Tetrahymena thermophila - genetics | Polydactyly - genetics | Humans | Male | Bone Diseases, Developmental - genetics | Mutation - genetics | Zebrafish - growth & development | Zebrafish - genetics | Tetrahymena thermophila - growth & development | Carrier Proteins - genetics | Animals | Pedigree | Kidney Diseases, Cystic - genetics | Female | Thoracic Diseases - genetics | Infant, Newborn | Care and treatment |