المؤلفون: Andrea Stefekova, Pavlina Capkova, Zuzana Capkova, Vaclava Curtisova, Josef Srovnal, Enkhjargalan Mracka, Eva Klaskova, Martin Prochazka

المصدر: Biomedical Papers, Vol 166, Iss 2, Pp 187-194 (2022)

مصطلحات موضوعية: congenital heart defect, bilateral renal agenesis, clinical variability, copy number variants, Medicine

وصف الملف: electronic resource

العلاقة: https://biomed.papers.upol.cz/artkey/bio-202202-0010_mlpa-analysis-of-32-foetuses-with-a-congenital-heart-defect-and-1-foetus-withTest-renal-defects-pilot-study-the.php; https://doaj.org/toc/1213-8118Test; https://doaj.org/toc/1804-7521Test

الوصول الحر: https://doaj.org/article/d7895605c7434adb8be9ddb11e1edc9dTest

المؤلفون: Rheder, Helga, Schoner, Katharina, Witsch-Baumgartner, Martina, Behunova, Jana, Petrovic, Robert, Bald, Rainer, Kircher, Susanne G., Ramaswamy, Annette, Kluge, Britta, Meyer-Wittkopf, Matthias, Schmitz, Ralf, Fritz, Barbara, Zschocke, Johannes, Laccone, Franco

مصطلحات موضوعية: atrioventricular septal defect, bilateral renal agenesis, DHCR7 gene mutations, fetal Smith‐Lemli‐Opitz syndrome, holoprosencephaly

جغرافية الموضوع: UMW:14491

وصف الملف: text/html

العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-28295/128Test; urn:nbn:at:at-ubmuw:3-28295; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-28295Test; local:99145603616403331; system:AC15746121

الإتاحة: https://doi.org/10.1002/bdr2.1620Test
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-28295Test

المؤلفون: Mari Charisse Trinidad, Sherif A. Shazly, Andre Terzic, Mikel Prieto, Brenda Schiltz, Victoria Novoa, David J. Sas, Simrit K. Warring, Rodrigo Ruano

المصدر: Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 4, Iss 4, Pp 391-409 (2020)
Mayo Clinic Proceedings: Innovations, Quality & Outcomes

مصطلحات موضوعية: medicine.medical_specialty, PPROM, preterm premature rupture of membranes, medicine.medical_treatment, Oligohydramnios, Review, 030204 cardiovascular system & hematology, WHO, World Health Organization, Amnioinfusion, 03 medical and health sciences, Pulmonary hypoplasia, 0302 clinical medicine, MVP, maximal vertical pocket, Interquartile range, AFI, AF index, BRA, bilateral renal agenesis, medicine, 030212 general & internal medicine, PD, peritoneal dialysis, AFV, AF volume, IQR, interquartile range, lcsh:R5-920, AF, amniotic fluid, business.industry, Obstetrics, SAT, serial amnioinfusion therapy, Gestational age, medicine.disease, DOL, day of life, Bilateral Renal Agenesis, LUTO, lower urinary tract obstruction, Apgar score, CRA, congenital renal anomaly, lcsh:Medicine (General), Urinary tract obstruction, business, GA, gestational age

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9565b63f4a188a6fed6d800400fae3feTest
https://doi.org/10.1016/j.mayocpiqo.2020.04.008Test

المؤلفون: Franco Laccone, Martina Witsch-Baumgartner, Matthias Meyer‐Wittkopf, Helga Rehder, Johannes Zschocke, Barbara Fritz, Robert Petrovic, Annette Ramaswamy, Ralf Schmitz, Jana Behunova, Katharina Schoner, Britta Kluge, Susanne Gerit Kircher, Rainer Bald

المصدر: Birth Defects Research

مصطلحات موضوعية: 0301 basic medicine, Oxidoreductases Acting on CH-CH Group Donors, congenital, hereditary, and neonatal diseases and abnormalities, Embryology, Microcephaly, Pathology, medicine.medical_specialty, Health, Toxicology and Mutagenesis, Mutation, Missense, Autopsy, 030105 genetics & heredity, Toxicology, fetal Smith‐Lemli‐Opitz syndrome, 03 medical and health sciences, Fetus, Holoprosencephaly, Pregnancy, Humans, Medicine, Missense mutation, Abnormalities, Multiple, Cyst, atrioventricular septal defect, Research Articles, DHCR7 gene mutations, business.industry, Heart Septal Defects, bilateral renal agenesis, medicine.disease, Smith-Lemli-Opitz Syndrome, Bilateral Renal Agenesis, Phenotype, holoprosencephaly, 030104 developmental biology, Smith–Lemli–Opitz syndrome, Polysyndactyly, Mutation, Pediatrics, Perinatology and Child Health, Female, Dandy-Walker Syndrome, business, Research Article, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fc76ea07ac6734415342ad813fa634Test
https://doi.org/10.1002/bdr2.1620Test

المؤلفون: E. F. Andreeva, N. D. Savenkova

المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 1, Pp 47-51 (2021)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, newborns, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Oligohydramnios, renal oligohydramnios, Pediatrics, RJ1-570, 03 medical and health sciences, Cystic kidney disease, 0302 clinical medicine, 030225 pediatrics, medicine, Potter Syndrome, business.industry, potter sequence, medicine.disease, Renal hypoplasia, Autosomal Recessive Polycystic Kidney Disease, Bilateral Renal Agenesis, potter phenotype, Pediatrics, Perinatology and Child Health, business, cystic kidney disease, Potter sequence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7596b7694a64b401eae6c2c5e92e4b96Test
https://www.ped-perinatology.ru/jour/article/view/1337Test

المؤلفون: A. N. Chukanov

المصدر: Health and Ecology Issues. :43-48

مصطلحات موضوعية: Bilateral Renal Agenesis, medicine.medical_specialty, Fetus, Obstetrics, business.industry, medicine, Prenatal diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::439463cf6f41c444dd8bcb41cf99f938Test
https://doi.org/10.51523/2708-6011.2020-17-3-6Test

المؤلفون: Michael Gattas, Lindsay F. Fowles, Katherine Holman, Gladys Ho, Joanna Crawford, Catherine Quinlan, Bruce Bennetts, Andrew Mallett, Chirag Patel, Richard Baer, Cas Simons

المصدر: Kidney Medicine, Vol 1, Iss 5, Pp 315-318 (2019)
Kidney Medicine

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Twitter, Genomics, Case Report, Disease, Precision medicine, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923, Bilateral Renal Agenesis, Nephrology, Health care, Internal Medicine, medicine, Social media, Kidney disorder, Intensive care medicine, business, Genetic Kidney Disease, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb070dd65a8800b3386c9682fde36d7Test
http://www.sciencedirect.com/science/article/pii/S2590059519300792Test

المؤلفون: Joseph de Nanassy, Chunyan Wang, Kristin D. Kernohan, Ruobing Zou, Gabrielle Lemire, Bryan Lo, Priya T. Bhola, Shirlee Shril, Caitlin Chisholm, Sherif El Desoky, Sarah L. Sawyer, Grace U Ediae, Jameela A. Kari, Kym M. Boycott, Bixia Zheng, Friedhelm Hildebrandt, Xueqi Wang, Mohammed Shalaby

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pathology, medicine.medical_specialty, 030105 genetics & heredity, Kidney, Renal tubule morphogenesis, Article, Congenital Abnormalities, 03 medical and health sciences, Mice, Pregnancy, Genetics, medicine, Animals, Humans, Child, Urinary Tract, Renal agenesis, Genetics (clinical), business.industry, Homozygote, Infant, medicine.disease, Renal hypoplasia, Hypoplasia, Bilateral Renal Agenesis, Wnt Proteins, 030104 developmental biology, Kidney Tubules, Dysplasia, Agenesis, Urogenital Abnormalities, Female, Kidney Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ddfa02391d738882cd637ce5f06c9b8Test
https://europepmc.org/articles/PMC8446303Test/

المؤلفون: Myriam Vezain, Bruno J. Gonzalez, Florent Marguet, Annie Laquerrière, Nathalie Drouot, Arie Horowitz, Pascale Saugier-Veber, Kévin Cassinari, Pascale Marcorelles, Séverine Audebert-Bellanger, Pascal Chambon

المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Choroid plexus hydrops, Case Report, Neuropathology, Diaphragmatic defect, Biology, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Fetus, Multiple ependymal malformations, Pregnancy, Foetal hydrocephalus, medicine, Humans, RC346-429, CCDC88C pathogenic variants, Neural tube defect, Microfilament Proteins, Wnt signaling pathway, Neural tube, Intracellular Signaling Peptides and Proteins, Brain, medicine.disease, Planar cell polarity, Autosomal recessive inheritance, Hydrocephalus, Pedigree, Bilateral Renal Agenesis, Fetal Diseases, medicine.anatomical_structure, Renal agenesis, Mutation, Choroid plexus, Female, Neurology. Diseases of the nervous system, Neurology (clinical), Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d273b6f70da243ef1ab5c28a62fe021aTest
http://europepmc.org/articles/PMC8183048Test

المؤلفون: Khalsa Al-Kharusi, Adila Al-Kindi, Zandre Bruwer, Bushra Al-Shamsi, Ghalia Al-Kasbi, Almundher Al-Maawali

المصدر: European journal of medical genetics. 65(1)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Glial Cell Line-Derived Neurotrophic Factor Receptors, Biology, urologic and male genital diseases, Kidney, Congenital Abnormalities, Mesonephric duct, Neurotrophic factors, Loss of Function Mutation, Exome Sequencing, Genetics, medicine, Humans, Exome, Renal agenesis, Genetics (clinical), Loss function, Exome sequencing, Infant, Newborn, General Medicine, medicine.disease, Bilateral Renal Agenesis, Ureteric bud, Kidney Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331ef5d7f72e88f53da00cfee7882e42Test
https://pubmed.ncbi.nlm.nih.gov/34737117Test