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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 | Index Medicus | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 95 - 104
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 262 - 268
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here,... 
ASYMMETRY | DEFECTS | MUTANTS | DYSKINESIA | GENETICS & HEREDITY | ARMS | RADIAL SPOKES | MUTATIONS | CHLAMYDOMONAS-FLAGELLA | IDENTIFICATION | INNER | Axoneme - metabolism | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | Chlamydomonas - metabolism | Axoneme - genetics | Chlamydomonas - ultrastructure | Sperm Tail - metabolism | Axonemal Dyneins - ultrastructure | Plasminogen Activator Inhibitor 1 - metabolism | Axoneme - ultrastructure | Chlamydomonas - genetics | Algal Proteins - genetics | Cilia - ultrastructure | Plasminogen Activator Inhibitor 1 - genetics | Amino Acid Sequence | Cytoskeleton - genetics | Kartagener Syndrome - physiopathology | Cilia - metabolism | Cilia - genetics | Carrier Proteins - genetics | Ciliary Motility Disorders - pathology | Sperm Tail - ultrastructure | Cytoskeleton - metabolism | Kartagener Syndrome - metabolism | Mutation | Ciliary Motility Disorders - genetics | Genetic disorders | Gene mutations | Dynein | Physiological aspects | Genetic aspects | Research | Health aspects | Genetic screening | Motility | Genes | Algae | Cloning | Colleges & universities | Genomes | Data bases | Molecular weight | Defects | Proteins | Microscopy | Proteomics | Mass spectrometry | Clinical Medicine | Oto-rhino-laryngologi | Medical and Health Sciences | Medicin och hälsovetenskap | Otorhinolaryngology | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 672 - 686
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 336 - 345
Journal Article
Science, ISSN 0036-8075, 4/2010, Volume 328, Issue 5978, pp. 636 - 639
Journal Article
Breast Cancer Research, ISSN 1465-5411, 05/2014, Volume 16, Issue 3, pp. R46 - R46
Introduction: Pure invasive micropapillary carcinoma (IMPC) is a special type of breast carcinoma characterised by clusters of cells presenting polarity... 
PATHWAYS | TRANSCRIPTS | ONCOLOGY | SUBTYPES | CLASSIFICATION | COMPARATIVE GENOMIC HYBRIDIZATION | CANCER | TUMORS | MUTATIONAL EVOLUTION | DISCOVERY | FEATURES | Carcinoma, Ductal, Breast - genetics | Cytoskeletal Proteins - genetics | Humans | Axonemal Dyneins - genetics | Serine C-Palmitoyltransferase - genetics | Mutation, Missense | Tumor Suppressor Protein p53 - genetics | DNA Copy Number Variations | Group II Chaperonins - genetics | Nuclear Proteins - biosynthesis | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Carcinoma, Ductal, Breast - pathology | Female | Retrospective Studies | Neoplasm Proteins - genetics | Breast - pathology | Calmodulin-Binding Proteins - genetics | Forkhead Transcription Factors - biosynthesis | Receptor, ErbB-2 - biosynthesis | Membrane Proteins - genetics | Forkhead Transcription Factors - genetics | Sequence Analysis, DNA | Membrane Glycoproteins - genetics | Phosphatidylinositol 3-Kinases - genetics | Cell Polarity - genetics | Exome - genetics | Membrane Proteins - biosynthesis | Microfilament Proteins - biosynthesis | Breast Neoplasms - genetics | Class I Phosphatidylinositol 3-Kinases | Sequence Analysis, RNA | Breast Neoplasms - pathology | Receptors, Estrogen - biosynthesis | Gene Amplification - genetics | Forkhead Box Protein O3 | Neoplasm Invasiveness - genetics | Sequence Deletion - genetics | RNA sequencing | Breast cancer | Genetic aspects | Analysis
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2016, Volume 12, Issue 12, p. e1006469
Journal Article