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The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | 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 | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2018, Volume 27, Issue 10, pp. 1743 - 1753
Abstract LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively... 
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 | Index Medicus | 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
The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 275 - 282
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1962 - 1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and... 
Cerebellum | Hypertension | Polycystic kidney, autosomal recessive | Nephronophthisis | Joubert syndrome 1 | Ciliopathies | Retina | Cystic kidney | Prospective studies | Kidney diseases, cystic | Abnormalities, multiple | Genetic renal disease | Kidney | Sequence analysis, DNA | Pregnancy | Ciliopathy | Multicystic dysplastic kidney | Eye abnormalities | Phenotype | Kidney failure, chronic | Genetic association studies | Ultrasonography, prenatal | Mutation | Polycystic kidney disease | URINARY-TRACT MALFORMATIONS | MULTICYSTIC DYSPLASTIC KIDNEY | UROLOGY & NEPHROLOGY | FOLLOW-UP | DISORDERS | MUTATIONS | ATAXIA | SENIOR-LOKEN | MOLAR TOOTH SIGN | CHILDREN | Abnormalities, Multiple - metabolism | Retina - metabolism | Eye Abnormalities - diagnostic imaging | Prospective Studies | Multicystic Dysplastic Kidney - complications | Humans | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Cerebellum - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Multicystic Dysplastic Kidney - genetics | Membrane Proteins - genetics | Cerebellum - metabolism | Abnormalities, Multiple - diagnostic imaging | Genotype | Eye Abnormalities - genetics | Polycystic Kidney, Autosomal Recessive - diagnostic imaging | Kidney Failure, Chronic - genetics | Proteins - genetics | Magnetic Resonance Imaging | Retina - diagnostic imaging | Kidney Diseases, Cystic - metabolism | Multicystic Dysplastic Kidney - diagnostic imaging | Ultrasonography, Prenatal | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Retina - abnormalities | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Eye Abnormalities - complications | Kidney Failure, Chronic - etiology | Index Medicus | nephronophthisis | cystic kidney | kidney | Eye Abnormalities | polycystic kidney disease | Kidney Diseases, Cystic | Multicystic Dysplastic Kidney | Polycystic Kidney, Autosomal Recessive | Genetic Association Studies | Abnormalities, Multiple | Sequence Analysis, DNA | genetic renal disease | ciliopathy | Kidney Failure, Chronic | Original | hypertension
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 289 - 294
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2/2008, Volume 17, Issue 4, pp. 539 - 554
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, pp. 521 - 529
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2000, Volume 24, Issue 4, pp. 391 - 395
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 121 - 135
Journal Article