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Journal of Glaucoma, ISSN 1057-0829, 03/2018, Volume 27, Issue 6, pp. e110 - e112
BACKGROUND:Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes... 
congenital glaucoma | anterior segment dysgenesis | glaucoma | Crouzon syndrome | ANTERIOR-CHAMBER DYSGENESIS | MUTATION | OPHTHALMOLOGY | CRANIOSYNOSTOSIS | Glaucoma | Complications and side effects | Risk factors | Craniofacial dysostosis
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 302 - 312
Journal Article
by Song, W and Hu, XD
MEDICINE, ISSN 0025-7974, 08/2017, Volume 96, Issue 33
Rationale: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. Patient... 
FOXC1 | embryotoxon | KOREAN FAMILY | anterior segment dysgenesis | MEDICINE, GENERAL & INTERNAL | PITX2 GENE | DISEASE | 4Q25 | CYP1B1 MUTATIONS | SPECTRUM | autosomal dominant | GLAUCOMA | PROTEINS | retinal detachment | SYNDROME MAPS | Axenfeld-Rieger syndrome
Journal Article
Journal Article
The Journal of Urology, ISSN 0022-5347, 2006, Volume 175, Issue 5, pp. 1858 - 1860
The presence of a Y chromosome in the extrascrotal gonad of patients with intersex disorders has been associated with a high risk of GB and, potentially, GCT.... 
Turner syndrome | mosaicism | gonadoblastoma | Y-CHROMOSOME MOSAICISM | PHENOTYPE | UROLOGY & NEPHROLOGY | GONADAL-DYSGENESIS | DYSGERMINOMA | TUMORS | Gonadoblastoma - complications | Humans | Adolescent | Child, Preschool | Turner Syndrome - complications | Female | Ovarian Neoplasms - complications | Child | Polymerase chain reaction | Germ cell tumors | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Glaucoma, ISSN 1057-0829, 02/2017, Volume 26, Issue 2, pp. e84 - e86
Journal Article
Indian Journal of Medical Research, ISSN 0971-5916, 2016, Volume 144, Issue August, pp. 276 - 280
Background & objectives: Clinically, nephrotic syndrome (NS) is a diverse group of symptoms; about 20 per cent of NS cases are resistant to steroid treatment,... 
Denys-drash syndrome | Wilms’ tumour 1 | Frasier syndrome | Steroid-resistant nephrotic syndrome | Focal segmental glomerulosclerosis | Indian children | MEDICINE, RESEARCH & EXPERIMENTAL | ASSOCIATIONS | MANAGEMENT | WILMS-TUMOR-1 GENE | Wilms' tumour 1 | PHENOTYPE | PREVALENCE | IMMUNOLOGY | focal segmental glomerulosclerosis | Denys-Drash syndrome | MEDICINE, GENERAL & INTERNAL | WT1 GENE | steroid-resistant nephrotic syndrome | DISEASES | SPLICE-SITE MUTATION | GONADAL-DYSGENESIS | FRASIER-SYNDROME | Glomerulosclerosis, Focal Segmental - genetics | Humans | Kidney Failure, Chronic - drug therapy | Child, Preschool | Gonads - pathology | Nephrotic Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Drug Resistance - genetics | Kidney Failure, Chronic - pathology | Glomerulosclerosis, Focal Segmental - drug therapy | Female | Steroids - therapeutic use | Mutation | Gonads - surgery | Child | WT1 Proteins - genetics | Glomerulosclerosis, Focal Segmental - pathology | Gene mutations | Genetic aspects | Nephrotic syndrome | Children | Nephroblastoma | Health aspects | Diseases | Genotype & phenotype | Nephrology | Biopsy | Boys | Females | Girls | Deoxyribonucleic acid--DNA | Age | Children & youth | Index Medicus | Original | Denys-Drash syndrome - focal segmental glomerulosclerosis - Frasier syndrome - Indian children - steroid-resistant nephrotic syndrome - Wilms′ tumour 1
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 282 - 288
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 605 - 613
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2011, Volume 108, Issue 16, pp. 6543 - 6548
Perrault syndrome is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss. In a nonconsanguineous... 
Enzymes | Yeasts | Mitochondria | Phenotypes | Sensorineural hearing loss | Medical genetics | Amino acids | Genetic mutation | Transfer RNA | Apoptosis | NERVOUS-SYSTEM INVOLVEMENT | APOPTOSIS | MARIE-TOOTH-DISEASE | CAENORHABDITIS-ELEGANS | NEUROPATHY | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | DEAFNESS | GENE ENCODES | AMINOACYLATION | SACCHAROMYCES-CEREVISIAE | Amino Acyl-tRNA Synthetases - genetics | Histidine-tRNA Ligase - metabolism | Gonadal Dysgenesis, 46,XX - genetics | Caenorhabditis elegans - genetics | Saccharomyces cerevisiae - genetics | Alternative Splicing - genetics | Humans | Male | Hearing Loss, Sensorineural - genetics | Mitochondrial Proteins - genetics | Mutation, Missense | Gonadal Dysgenesis, 46,XX - enzymology | Histidine-tRNA Ligase - genetics | Animals | Mitochondrial Proteins - metabolism | Hearing Loss, Sensorineural - enzymology | Saccharomyces cerevisiae - enzymology | Amino Acyl-tRNA Synthetases - metabolism | Caenorhabditis elegans - enzymology | Amino Acid Substitution | Ovarian diseases | Causes of | Physiological aspects | Genetic aspects | Mitochondrial DNA | Hearing loss | Deafness | Yeast | Nematodes | Mutation | Causality | Aminoacylation | Translation | tRNA | RNA-mediated interference | Data processing | Lethality | Nucleotides | Gene deletion | Deletion mutant | Hereditary diseases | Heterozygosity | Gonadal dysgenesis | Fertility | genomics | Codons | Linkage analysis | Siblings | Index Medicus | Biological Sciences
Journal Article