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1. Full Text Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
by Halbritter, Jan and Bizet, Albane A and Schmidts, Miriam and Porath, Jonathan D and Braun, Daniela A and Gee, Heon Yung and McInerney-Leo, Aideen M and Krug, Pauline and Filhol, Emilie and Davis, Erica E and Airik, Rannar and Czarnecki, Peter G and Lehman, Anna M and Trnka, Peter and Nitschké, Patrick and Bole-Feysot, Christine and Schueler, Markus and Knebelmann, Bertrand and Burtey, Stéphane and Szabó, Attila J and Tory, Kálmán and Leo, Paul J and Gardiner, Brooke and McKenzie, Fiona A and Zankl, Andreas and Brown, Matthew A and Hartley, Jane L and Maher, Eamonn R and Li, Chunmei and Leroux, Michel R and Scambler, Peter J and Zhan, Shing H and Jones, Steven J and Kayserili, Hülya and Tuysuz, Beyhan and Moorani, Khemchand N and Constantinescu, Alexandru and Krantz, Ian D and Kaplan, Bernard S and Shah, Jagesh V and Hurd, Toby W and Doherty, Dan and Katsanis, Nicholas and Duncan, Emma L and Otto, Edgar A and Beales, Philip L and Mitchison, Hannah M and Saunier, Sophie and Hildebrandt, Friedhelm and UK10K Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Proteins | Genotype & phenotype | Zebrafish | Index Medicus | Report
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2. Full Text Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
by Scott, Charles Anthony and Marsden, Autumn N and Rebagliati, Michael R and Zhang, Qihong and Chamling, Xitiz and Searby, Charles C and Baye, Lisa M and Sheffield, Val C and Slusarski, Diane C
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006936 - e1006936
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well... 
ZEBRAFISH EMBRYOS | KUPFFERS VESICLE | MCKUSICK-KAUFMAN-SYNDROME | SWI/SNF COMPLEX | PORE COMPLEX | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME GENES | MUTATIONS | BETA-CATENIN | MOUSE EMBRYO | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Uterine Diseases - metabolism | Bardet-Biedl Syndrome - metabolism | Humans | Uterine Diseases - pathology | Chromatin Assembly and Disassembly - genetics | Cytoplasm - metabolism | Polydactyly - metabolism | Group II Chaperonins - genetics | Heart Defects, Congenital - genetics | Hydrocolpos - genetics | Bardet-Biedl Syndrome - pathology | Bardet-Biedl Syndrome - genetics | Hydrocolpos - pathology | Active Transport, Cell Nucleus - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal | Cilia - pathology | Polydactyly - genetics | Heart Defects, Congenital - pathology | Hydrocolpos - metabolism | Transcription Factors - biosynthesis | Transcription Factors - genetics | Cilia - metabolism | Protein Transport - genetics | Zebrafish - genetics | Animals | Animals, Genetically Modified - genetics | Uterine Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Mutation | Chromatin - genetics | Polydactyly - pathology | Chromatin | Bardet-Biedl syndrome | Genetic aspects | Gene mutations | Health aspects | Heart | Pediatrics | Profiling | Transcription | Funding | Retinitis pigmentosa | Disorders | Transgenic | Cardiovascular disease | Biology | Remodeling | Nuclei | Defects | Proteins | Localization | Heart diseases | Cilia | Genetic disorders | Congenital diseases | Zebrafish | Roles | Gene expression | Patients | Coronary artery disease | Chromatin remodeling | Medicine | Alleles | McKusick-Kaufman syndrome | Genetic engineering | Retinitis | Transport | Position (location) | Cytoplasm | Index Medicus
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3. 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
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan... 
DEFECTS | PROTEIN | CRANIOECTODERMAL DYSPLASIA | SENSENBRENNER-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | NEPHRONOPHTHISIS | RIB-POLYDACTYLY SYNDROME | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT | PRIMARY CILIA | 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 | Renal failure | Fibroblasts | Abundance | Cilia | Jeune syndrome | Report
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4. Full Text Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
by Schmidts, Miriam and Vodopiutz, Julia and Christou-Savina, Sonia and Cortés, Claudio R and McInerney-Leo, Aideen M and Emes, Richard D and Arts, Heleen H and Tüysüz, Beyhan and D’Silva, Jason and Leo, Paul J and Giles, Tom C and Oud, Machteld M and Harris, Jessica A and Koopmans, Marije and Marshall, Mhairi and Elçioglu, Nursel and Kuechler, Alma and Bockenhauer, Detlef and Moore, Anthony T and Wilson, Louise C and Janecke, Andreas R and Hurles, Matthew E and Emmet, Warren and Gardiner, Brooke and Streubel, Berthold and Dopita, Belinda and Zankl, Andreas and Kayserili, Hülya and Scambler, Peter J and Brown, Matthew A and Beales, Philip L and Wicking, Carol and Duncan, Emma L and Mitchison, Hannah M and UK10K
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for... 
RETROGRADE INTRAFLAGELLAR TRANSPORT | PROTEIN | DYNC2H1 MUTATIONS | CILIOPATHIES | VERTEBRATE PHOTORECEPTORS | GENETICS & HEREDITY | RIB-POLYDACTYLY SYNDROME | CYTOPLASMIC DYNEIN-2 | DNA-SEQUENCING DATA | OUTER SEGMENT | PRIMARY CILIA | European Continental Ancestry Group - genetics | Exons | Humans | Asian Continental Ancestry Group - genetics | Cytoplasmic Dyneins - genetics | Cytoskeleton - genetics | Infant | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Axoneme - genetics | Cilia - metabolism | Cilia - genetics | Exome | Carrier Proteins - genetics | Animals | Chlamydomonas - genetics | Proteomics | Cytoskeleton - metabolism | Protein Conformation | Mutation | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Physiological aspects | Genetic code | Dysplasia | Genetic aspects | Research | Gene mutations | Proteins | Motor ability | Algae | Adenosine triphosphatase | Cytoplasm | Index Medicus | Report
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5. 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
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 94 - 110
Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human cause Meckel syndrome (MKS), a severe... 
INTRAFLAGELLAR TRANSPORT PROTEINS | SITUS-INVERSUS | NODAL CILIA | GRUBER-SYNDROME | MOUSE EMBRYOS | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | LEFT-RIGHT ASYMMETRY | REPRESSOR FUNCTIONS | PRIMARY CILIUM | SONIC-HEDGEHOG | 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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6. Full Text Hox Genes Regulate Digit Patterning by Controlling the Wavelength of a Turing-Type Mechanism
by Rushikesh Sheth and Luciano Marcon and M. Félix Bastida and Marisa Junco and Laura Quintana and Randall Dahn and Marie Kmita and James Sharpe and Maria A. Ros
Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6113, pp. 1476 - 1480
The formation of repetitive structures (such as stripes) in nature is often consistent with a reaction-diffusion mechanism, or Turing model, of self-organizing... 
Animal fins | Simulations | Vertebrates | Gene dosage | Phenotypes | Wavelengths | REPORTS | Polydactyly | Fish | Modeling | Modulated signal processing | VERTEBRATE LIMB DEVELOPMENT | NUMBER | EVOLUTION | DOWNSTREAM | MULTIDISCIPLINARY SCIENCES | CHICK LIMB | FINS | EXPRESSION | GLI3 | REACTION-DIFFUSION MODEL | SONIC-HEDGEHOG | Transcription Factors - physiology | Polydactyly - genetics | Zinc Finger Protein Gli3 | Genes, Homeobox - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Animals | Mice, Mutant Strains | Computer Simulation | Mice | Models, Genetic | Homeodomain Proteins - physiology | Body Patterning - genetics | Genes, Homeobox - physiology | Kruppel-Like Transcription Factors - genetics | Fetus | Human physiology | Genetic aspects | Research | Growth | Human genetics | Genotype & phenotype | Genetics | Evolution & development | Index Medicus | Patterning | Pathways | Genes | Digits | Fins | Evolution | Extreme values
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7. 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
Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage... 
ACTIVATOR | GLI | GENES | GENETICS & HEREDITY | C-ELEGANS | CILIA | REPRESSOR FUNCTIONS | 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 | Gene mutations | Carrier proteins | Chondrodysplasia punctata | Physiological aspects | Genetic aspects | Diagnosis | Research | Health aspects | Risk factors | Babies | Proteins | Genetic disorders | Mortality | Genetics | Fish | Mutation | Index Medicus
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8. Full Text Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
by Johnston, Jennifer J and Olivos-Glander, Isabelle and Killoran, Christina and Elson, Emma and Turner, Joyce T and Peters, Kathryn F and Abbott, Margaret H and Aughton, David J and Aylsworth, Arthur S and Bamshad, Michael J and Booth, Carol and Curry, Cynthia J and David, Albert and Dinulos, Mary Beth and Flannery, David B and Fox, Michelle A and Graham, John M and Grange, Dorothy K and Guttmacher, Alan E and Hannibal, Mark C and Henn, Wolfram and Hennekam, RaoulC.M and Holmes, Lewis B and Hoyme, H. Eugene and Leppig, Kathleen A and Lin, Angela E and MacLeod, Patrick and Manchester, David K and Marcelis, Carlo and Mazzanti, Laura and McCann, Emma and McDonald, Marie T and Mendelsohn, Nancy J and Moeschler, John B and Moghaddam, Billur and Neri, Giovanni and Newbury-Ecob, Ruth and Pagon, Roberta A and Phillips III, John A and Sadler, Laurie S and Stoler, Joan M and Tilstra, David and Walsh Vockley, Catherine M and Zackai, Elaine H and Zadeh, Touran M and Brueton, Louise and Black, Graeme Charles M and Biesecker, Leslie G
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 4, pp. 609 - 622
Mutations in the zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable... 
POINT MUTATIONS | MICRODELETION | DELINEATION | ANOMALIES | FAMILIES | HYPOTHALAMIC HAMARTOMA | ACROCALLOSAL SYNDROME | DISEASE | GENETICS & HEREDITY | SPECTRUM | INTERSTITIAL DELETION | Polydactyly - genetics | Epiglottis - abnormalities | Humans | Hypertelorism - genetics | Zinc Finger Protein Gli3 | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Syndrome | Hypothalamic Diseases - genetics | Kruppel-Like Transcription Factors | Hamartoma - genetics | Phenotype | Zinc Fingers - genetics | Mutation | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Syndactyly - genetics | Case studies | Genotype | Dosage compensation (Genetics) | Genotype & phenotype | Molecules | Genetics | Index Medicus
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9. 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
The American Journal of Human Genetics, ISSN 0002-9297, 03/2014, Volume 94, Issue 3, pp. 405 - 414
Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of... 
DEFECTS | PROTEOGLYCAN SYNTHESIS | LARSEN-SYNDROME | XYLOSYLTRANSFERASE | SULFATE | GENETICS & HEREDITY | SKELETAL | VARIANT | DEFICIENCY | EHLERS-DANLOS-SYNDROME | XT-II | 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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10. Full Text Megalencephaly syndromes: Exome pipeline strategies for detecting low-level mosaic mutations
by Tapper, William J and Foulds, Nicola and Cross, Nicholas C. P and Aranaz, Paula and Score, Joannah and Hidalgo-Curtis, Claire and Robinson, David O and Gibson, Jane and Ennis, Sarah and Temple, I. Karen and Collins, Andrew
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e86940 - e86940
Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly-hydrocephalus (MPPH), have... 
OVERGROWTH | PIK3CA | SEQUENCING DATA | FORMAT | MULTIDISCIPLINARY SCIENCES | Megalencephaly - pathology | Capillaries - pathology | Humans | Hydrocephalus - pathology | Infant | Male | Syndactyly - pathology | Proto-Oncogene Proteins c-akt - genetics | Fatal Outcome | Female | Hydrocephalus - genetics | Megalencephaly - genetics | Genetic Predisposition to Disease - genetics | Polydactyly - genetics | Gene Frequency | Genotype | Syndrome | Vascular Malformations - pathology | Phosphatidylinositol 3-Kinases - genetics | Exome - genetics | Phenotype | Class I Phosphatidylinositol 3-Kinases | Polymorphism, Single Nucleotide | Capillaries - abnormalities | Mutation | Vascular Malformations - genetics | Sequence Analysis, DNA - methods | Polydactyly - pathology | Syndactyly - genetics | Medicine, Experimental | Medical research | Genetic aspects | Gene mutations | Analysis | Neuroimaging | Medical imaging | Hydrocephalus | Laboratories | Pipelines | <