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European journal of human genetics : EJHG, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
...  European Journal of Human Genetics (2015) 23, 11651170& 2015 Macmillan Publishers Limited All rights reserved 1018-4813/15 http://www.nature.com/ejhg Web End... 
BLEPHAROPHIMOSIS | OHDO SYNDROME | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HISTONE ACETYLTRANSFERASE KAT6B | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Life Sciences | Human genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
.... In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | Congenital ataxia | Hypomorphic variants | Developmental defects | Ciliopathies | Polymicrogyria | Molar tooth sign | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing
Journal Article
Journal Article
Human molecular genetics, ISSN 1460-2083, 2018, Volume 27, Issue 10, pp. 1743 - 1753
... copy number and MRI abnormalities consistent with Leigh syndrome, identifying biallelic variants... 
TRANSLOCATION | CODAS SYNDROME | DNA | SUBSTRATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | DEGRADATION | MUTATIONS | TRANSCRIPTION FACTOR | BINDING | AAA PROTEASE | Hip Dislocation, Congenital - metabolism | ATP-Dependent Proteases - genetics | Tooth Abnormalities - physiopathology | Tooth Abnormalities - metabolism | Humans | Mitochondrial Diseases - metabolism | Infant | Male | Leigh Disease - metabolism | Mitochondrial Proteins - genetics | Craniofacial Abnormalities - physiopathology | Osteochondrodysplasias - genetics | Mitochondria - genetics | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Leigh Disease - physiopathology | Mitochondrial Diseases - genetics | Cell Line | Tooth Abnormalities - genetics | Oxidative Phosphorylation | Hip Dislocation, Congenital - genetics | Mitochondria - pathology | Eye Abnormalities - genetics | Leigh Disease - genetics | Whole Exome Sequencing | Exome - genetics | Osteochondrodysplasias - physiopathology | Growth Disorders - metabolism | Biopsy | Muscle, Skeletal - physiopathology | Eye Abnormalities - physiopathology | Hip Dislocation, Congenital - physiopathology | Mutation | Growth Disorders - genetics | Mitochondrial Diseases - physiopathology | Growth Disorders - physiopathology | Osteochondrodysplasias - metabolism | transcription factor | translocation | binding | degradation | aaa protease | Genetics & Heredity | Medicinsk genetik | Medical Genetics | Biochemistry & Molecular Biology | mutations | Biokemi och molekylärbiologi | codas syndrome | dna | Biochemistry and Molecular Biology | copy number | substrate
Journal Article
Human Mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1520 - 1525
Genitopatellar syndrome (GPS) and Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct... 
MYST4 | database | genitopatellar syndrome | KAT6B | Ohdo syndrome | Database | Genitopatellar syndrome | BLEPHAROPHIMOSIS | PROTEIN | MENTAL-RETARDATION | ANOMALIES | PHENOTYPE | ACUTE MYELOID-LEUKEMIA | HISTONE ACETYLTRANSFERASE | MORF | GENETICS & HEREDITY | OHDO-SYNDROME | QUERKOPF | Abnormalities, Multiple - pathology | Sequence Deletion | Scrotum - abnormalities | Kidney - pathology | Blepharoptosis - genetics | Histone Acetyltransferases - chemistry | Blepharophimosis - enzymology | Humans | Kidney - enzymology | Psychomotor Disorders - enzymology | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Molecular Sequence Data | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Base Sequence | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Patella - abnormalities | Intellectual Disability - enzymology | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Patella - enzymology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Scrotum - enzymology | Genetic Association Studies | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Haploinsufficiency | Patella - pathology | DNA - genetics | Urogenital Abnormalities - pathology | Kidney - abnormalities | Craniofacial Abnormalities - enzymology | Abnormalities, Multiple - enzymology | Mutation | Blepharoptosis - pathology | Databases, Nucleic Acid | Urogenital Abnormalities - genetics | Histones | Medical colleges | Congenital heart disease | Genetic disorders | Kidney diseases | Genes | Ohdo Syndrome | mutation database
Journal Article
American journal of human genetics, ISSN 0002-9297, 2013, Volume 92, Issue 6, pp. 990 - 995
Journal Article
Developmental biology, ISSN 0012-1606, 2016, Volume 415, Issue 2, pp. 326 - 337
.... Despite having distinct genetic causes, both mutants have recently been identified as ciliopathic... 
Oral-facial-digital syndrome | Primary cilia | Joubert syndrome | talpid3 | Ciliopathies | talpid2 | Chicken | Craniofacial | Talpid | SONIC HEDGEHOG | FACIAL-DIGITAL SYNDROME | DEVELOPMENTAL BIOLOGY | CENTROSOMAL PROTEIN | JOUBERT-SYNDROME | TALPID CILIOPATHY | CEPHALIC NEURAL CREST | DEVELOPMENTAL ABNORMALITIES | talpid | MOUSE MODEL | MECKEL-GRUBER-SYNDROME | Abnormalities, Multiple - metabolism | Ciliopathies - embryology | Retina - metabolism | Humans | Craniofacial Abnormalities - embryology | Cerebellum - abnormalities | Craniofacial Abnormalities - veterinary | Genes, Lethal | Ciliopathies - genetics | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Chickens - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Maxillofacial Development - genetics | Poultry Diseases - genetics | Disease Models, Animal | Polydactyly - genetics | Genetic Association Studies | Animals, Genetically Modified | Cerebellum - metabolism | Orofaciodigital Syndromes - genetics | Eye Abnormalities - genetics | Chick Embryo | Poultry Diseases - embryology | Ciliopathies - veterinary | Kidney Diseases, Cystic - metabolism | Animals | Retina - abnormalities | Mice | Polydactyly - veterinary | Mutation | Cell Cycle Proteins - physiology | Orofaciodigital Syndromes - embryology | Surgery, Plastic | Developmental biology | Analysis | Genomics | Medicine, Experimental | Medical research | chicken | ciliopathies | primary cilia | craniofacial
Journal Article
Genetics in medicine, ISSN 1530-0366, 2018, Volume 21, Issue 8, pp. 1719 - 1725
Journal Article
Nature genetics, ISSN 1546-1718, 2008, Volume 40, Issue 12, pp. 1466 - 1471
Journal Article
Journal Article