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Journal of Immunology, ISSN 0022-1767, 10/2012, Volume 189, Issue 8, pp. 3957 - 3969
The lectin pathway of complement is an important component of innate immunity. Its activation has been thought to occur via recognition of pathogens by... 
SYSTEM | INDIVIDUALS | PATTERN-RECOGNITION MOLECULES | COMPLEMENT FACTOR-D | MBL | 3MC SYNDROME | STOICHIOMETRY | MUTATIONS | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | Craniofacial Abnormalities - immunology | Transcriptional Activation - genetics | Complement Pathway, Mannose-Binding Lectin - immunology | Blepharoptosis - genetics | Eye Abnormalities - enzymology | Mannose-Binding Protein-Associated Serine Proteases - physiology | Eye Abnormalities - immunology | Humans | Heart Defects, Congenital - immunology | Craniosynostoses - enzymology | Blepharoptosis - immunology | Developmental Disabilities - genetics | Transcriptional Activation - immunology | Strabismus - genetics | Abdominal Muscles - abnormalities | Abnormalities, Multiple - immunology | Heart Defects, Congenital - genetics | Developmental Disabilities - enzymology | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Mannose-Binding Protein-Associated Serine Proteases - genetics | Complement Pathway, Alternative - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Strabismus - enzymology | Abdominal Muscles - immunology | Craniosynostoses - genetics | Complement Pathway, Mannose-Binding Lectin - genetics | Cryptorchidism - enzymology | Abdominal Muscles - enzymology | Hip Dislocation, Congenital - genetics | Codon, Nonsense | Eye Abnormalities - genetics | Animals | Craniofacial Abnormalities - enzymology | Craniosynostoses - immunology | Cryptorchidism - immunology | Hip Dislocation, Congenital - immunology | Complement Pathway, Alternative - immunology | Strabismus - immunology | Abnormalities, Multiple - enzymology | Developmental Disabilities - immunology | Hip Dislocation, Congenital - enzymology | Cryptorchidism - genetics | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 5, pp. 679 - 686
Journal Article
Endocrine-Related Cancer, ISSN 1351-0088, 03/2010, Volume 17, Issue 1, pp. 17 - 25
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 161 - 169
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2012, Volume 49, Issue 1, pp. 58 - 65
Background Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and... 
GERM-CELL CANCER | KITLG | VARIANTS | GENETICS & HEREDITY | ADULT HUMAN TESTIS | GENE-EXPRESSION | ENVIRONMENTAL ASPECTS | CRYPTORCHIDISM | HYPOSPADIAS | SEMEN QUALITY | CARCINOMA IN-SITU | Receptors, Transforming Growth Factor beta - genetics | Testis - metabolism | Bone Morphogenetic Protein 7 - genetics | Humans | Male | Neoplasms, Germ Cell and Embryonal - genetics | Stem Cell Factor - genetics | Case-Control Studies | Protein Interaction Maps | Adult | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Testicular Neoplasms - genetics | Stem Cell Factor - metabolism | Gonadal Dysgenesis - genetics | Testicular Neoplasms - metabolism | Proteoglycans - metabolism | Genotype | Neoplasms, Germ Cell and Embryonal - metabolism | Genetic Markers | Linkage Disequilibrium | Testis - pathology | Receptors, Transforming Growth Factor beta - metabolism | Bone Morphogenetic Protein 7 - metabolism | Polymorphism, Single Nucleotide | Gonadal Dysgenesis - metabolism | Proteoglycans - genetics | Cohort Studies | Genomes | Research | Index Medicus | systems biology | developmental | TDS | GWAS | chromosomal | infertility | oncology | genetic epidemiology | cancer: urological | epidemiology | genome-wide | genetics | testis cancer | reproductive medicine | Complex Traits | 1506 | diabetes | endocrinology | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2015, Volume 103, Issue 1, pp. 44 - 52.e1
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 01/2016, Volume 80, Issue 1, pp. 50 - 62
Journal Article
Sexual Development, ISSN 1661-5425, 09/2016, Volume 10, Issue 3, pp. 136 - 146
The whole genome RNA profiling of testicular biopsies by DNA strand-specific RNA sequencing was examined to determine a potential causative role of isolated... 
Original Article | RNA sequencing | Idiopathic central hypogonadism | Ad spermatogonia | Infertility | Cryptorchidism | PROK2 | Mini-puberty | STEROIDOGENIC FACTOR-1 | DEVELOPMENTAL BIOLOGY | FERTILITY | HORMONE | BETA-GENE | KALLMANN-SYNDROME | RECEPTOR GENE | GNRH | PROMOTER | OLIGOZOOSPERMIA | Cryptorchidism - metabolism | Prospective Studies | Humans | Receptor, Fibroblast Growth Factor, Type 1 - metabolism | Child, Preschool | Infant | Male | Azoospermia - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Puberty - physiology | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Spermatogonia - metabolism | Cryptorchidism - physiopathology | Puberty - genetics | DNA-Binding Proteins - metabolism | Spermatogonia - physiology | Infertility, Male - genetics | Hypogonadism - metabolism | Gastrointestinal Hormones - metabolism | Hypogonadism - physiopathology | Neuropeptides - genetics | DNA Helicases - genetics | Intracellular Signaling Peptides and Proteins - genetics | Neuropeptides - metabolism | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Hypogonadism - genetics | Nerve Tissue Proteins - metabolism | DNA Helicases - metabolism | Azoospermia - physiopathology | Gastrointestinal Hormones - genetics | Azoospermia - genetics | Infertility, Male - metabolism | Cryptorchidism - genetics
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 213 - 216
Journal Article
Molecular Human Reproduction, ISSN 1360-9947, 05/2015, Volume 22, Issue 1, pp. 18 - 34
Journal Article