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HUMAN REPRODUCTION, ISSN 0268-1161, 09/2019, Volume 34, Issue 9, pp. 1838 - 1846
The aetiology of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, characterized by uterovaginal agenesis in 46,XX women, remains poorly understood. Since... 
CAKUT | renal agenesis | penetrance | GREB1L | CLINICAL-ASPECTS | genomic imprinting | PREVALENCE | Mayer-Rokitansky-Kuster-Hauser syndrome | whole exome sequencing | OBSTETRICS & GYNECOLOGY | Mullerian aplasia | REPRODUCTIVE BIOLOGY | genetics | MUTATION | ASSOCIATION
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2005, Volume 102, Issue 5, pp. 1490 - 1495
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 803 - 814
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 288 - 294
Journal Article
Journal of Perinatal Medicine, ISSN 0300-5577, 07/2017, Volume 45, Issue 5, pp. 585 - 594
Journal Article
Clinical and Experimental Nephrology, ISSN 1342-1751, 6/2019, Volume 23, Issue 6, pp. 792 - 798
Journal Article
Israel Medical Association Journal, ISSN 1565-1088, 02/2019, Volume 21, Issue 2, pp. 85 - 87
Background: Unilateral renal agenesis is a rare finding. There are no large-scale studies reporting this finding in early pregnancy. Objectives: To evaluate... 
Associated anomalies | Unilateral renal agenesis (URA) | Early prenatal scans | Incidence | MEDICINE, GENERAL & INTERNAL | IMPACT | associated anomalies | ANOMALIES | early prenatal scans | SOLITARY FUNCTIONING KIDNEY | unilateral renal agenesis (URA) | EXPERIENCE | FETAL | incidence
Journal Article
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 215 - 228
Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis is almost... 
GREB1L | CAKUT | Renal agenesis | Whole exome sequencing | Retinoic acid | URETERAL BUD | renal agenesis | GREB1 | BRANCHING MORPHOGENESIS | KIDNEY DEVELOPMENT | CONGENITAL-ANOMALIES | IDENTIFICATION | whole exome sequencing | GENOME | retinoic acid | GENETICS & HEREDITY | MUTATIONS | COPY NUMBER VARIATION | TRANSCRIPTION FACTOR | Loss of Function Mutation | Kidney - embryology | Kidney - pathology | Humans | Male | Neoplasm Proteins - metabolism | Kidney Diseases - genetics | Receptors, Retinoic Acid - genetics | Exome | Kidney - metabolism | Congenital Abnormalities - genetics | Female | Neoplasm Proteins - genetics | Kidney Diseases - congenital | Kidney Diseases - pathology | Zebrafish Proteins - metabolism | Receptors, Retinoic Acid - metabolism | Zebrafish | Congenital Abnormalities - pathology | Proteins - genetics | Animals | Proteins - metabolism | Kidney - abnormalities | Pedigree | Mice | Zebrafish Proteins - genetics | Usage | Research | Genetic variation | Exome sequencing | Chromatin | Syngeneic grafts | Congenital defects | Genes | Retinoic acid receptors | Estrogen | Thyroid gland | Urinary tract | Defects | Morphogenesis | Genotype & phenotype | Receptors | Rodents | Urogenital system | CRISPR | Congenital diseases | Births | Heredity | Gene expression | Acids | Mutagenesis | Congenital anomalies | Stem cells | Mutation | Kidney diseases | Anomalies | Investigations
Journal Article
Obstetrical & Gynecological Survey, ISSN 0029-7828, 05/2019, Volume 74, Issue 5, pp. 298 - 302
IMPORTANCEBilateral renal agenesis is a rare congenital anomaly associated with poor prognosis. OBJECTIVEThe aims of this article are to review and summarize... 
ULTRASOUND | MRI | ANOMALIES | AMNIOINFUSIONS | OBSTETRICS & GYNECOLOGY | Fetal diseases | Ultrasonic imaging | Patient outcomes | Ultrasonics in obstetrics | Fetus | Diagnosis | Renal agenesis | Methods
Journal Article