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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
Journal of Neurology, ISSN 0340-5354, 6/2018, Volume 265, Issue 6, pp. 1338 - 1342
Journal Article
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 01/2016, Volume 4, Issue 1, pp. 106 - 119
In this study, we have determined the ability of eight new BLM variants (P690L, R717L, R791C, W803R, Y811C, P868L, G972V, G1120R) to complement defects of... 
BLM | genome instability | DNA | bloom syndrome | variants | helicase | hypomorphic | STRAND BREAK REPAIR | RECQ HELICASES | DNA-DAMAGE | TOPOISOMERASE-I | HISTONE H2AX | PROTEIN PHOSPHATASE 2A | SACCHAROMYCES-CEREVISIAE | MISSENSE MUTATIONS | BLM variants | DNA helicase | SISTER CHROMATIDS | IMAGE-ANALYSIS | GENETICS & HEREDITY
Journal Article
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 04/2019, Volume 7, p. 122
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J recombination that leads to generation of the T and... 
GRANULOMATOUS-DISEASE | hypomorphic variant | AUTOIMMUNITY | RAG deficiency | primary immunodeficiency | PEDIATRICS | MUTATIONS | RAG2 | compound heterozygous variant | combined immunodeficiency | Immunodeficiency
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2017, Volume 18, Issue 1, pp. 103 - 103
Journal Article
Kidney International, ISSN 0085-2538, 02/2012, Volume 81, Issue 4, pp. 412 - 417
Journal Article
Pediatrics, ISSN 0031-4005, 02/2013, Volume 131, Issue 2, pp. e620 - e625
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 957 - 969
Journal Article
Indian journal of nephrology, ISSN 0971-4065, 11/2018, Volume 28, Issue 6, pp. 482 - 484
Autosomal dominant polycystic kidney disease is characterized by multiple cysts in both kidneys manifesting in adult life. In general, the disorder is caused... 
Case studies | Care and treatment | Genetic aspects | Diagnosis | Research | EF hand proteins | Polycystic kidney disease | Hypertension | Proteins | Genotype & phenotype | Parents & parenting | Ultrasonic imaging | Cysts | Consent | Genes | Families & family life | Kidney diseases | Age | Siblings | genetic counseling | hypomorphic alleles | PKD1 | Autosomal dominant polycystic kidney disease | Case Report
Journal Article