المؤلفون: Lopes, Filipa, Woolf, Adrian S., Ho, Yee Mang, et, al

المصدر: Lopes , F , Woolf , A S , Ho , Y M & et , A 2024 , ' Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies ' , NPJ Genomic Medicine , vol. 9 , no. 18 . https://doi.org/10.1038/s41525-024-00398-9

مصطلحات موضوعية: CELSR3, Bi-allelic variants, Central nervous system (CNS) anomalies, Neurodevelopmental disorder, Seizures, Neural tube defects, Congenital anomalies of the kidneys and urinary tract (CAKUT), Kidney, Zebrafish (Danio rerio)

Relation: https://research.manchester.ac.uk/en/publications/39aaec05-5587-45e9-8970-a928e608a355

الاتاحة: https://research.manchester.ac.uk/en/publications/39aaec05-5587-45e9-8970-a928e608a355
https://doi.org/10.1038/s41525-024-00398-9

المؤلفون: Xue Yang, Yaqi Li, Ye Fang, Hua Shi, Tianchao Xiang, Jiaojiao Liu, Jialu Liu, Xiaoshan Tang, Xiaoyan Fang, Jing Chen, Yihui Zhai, Qian Shen, Yunli Bi, Yanyan Qian, Bingbing Wu, Huijun Wang, Wenhao Zhou, Duan Ma, Haitao Bai, Jianhua Mao, Lizhi Chen, Xiaowen Wang, Xiaojie Gao, Ruifeng Zhang, Jieqiu Zhuang, Aihua Zhang, Xiaoyun Jiang, Hong Xu, Jia Rao

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Congenital anomalies of the kidneys and urinary tract (CAKUT), PAX2, Renal coloboma syndrome (RCS), Phenotypic cluster analysis, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/8899d41f183342d5afdd1a32a630a7c5

المؤلفون: Ciuntu, A.O., Bernic, J.V., Берник, Ж.В.

المصدر: Actualități în practica pediatrică: provocări și succese

مصطلحات موضوعية: congenital anomalies of the kidneys and urinary tract, dilatations of the urinary tract, prenatal screening, postnatal diagnosis, врожденные аномалии почек и мочевыводящих путей, дилатация мочевыводящих путей, пренатальный скрининг, постнатальная диагностика, anomalii congenitale ale rinichilor și tractului urinar, dilatări ale tractului urinar, screening prenatal, diagnostic postnatal

وصف الملف: application/pdf

Relation: https://ibn.idsi.md/vizualizare_articol/177786

الاتاحة: https://ibn.idsi.md/vizualizare_articol/177786

المؤلفون: Arundhati Biswas, Tathagata Bose, Rahul Ranjan Mandal, Toshi Kapoor, Suprita Kalra

المصدر: Journal of Marine Medical Society, Vol 22, Iss 2, Pp 156-160 (2020)

مصطلحات موضوعية: chronic kidney disease, congenital anomalies of the kidneys and urinary tract, end-stage renal disease, Naval Science, Medicine

وصف الملف: electronic resource

Relation: http://www.marinemedicalsociety.in/article.asp?issn=0975-3605;year=2020;volume=22;issue=2;spage=156;epage=160;aulast=Biswas; https://doaj.org/toc/0975-3605

URL الوصول: https://doaj.org/article/2399bf0f810e476c8e289df030894661

المؤلفون: Xue Yang (144876), Yaqi Li (2936265), Ye Fang (60292), Hua Shi (7282), Tianchao Xiang (10717737), Jiaojiao Liu (1943275), Jialu Liu (333406), Xiaoshan Tang (10717740), Xiaoyan Fang (2264767), Jing Chen (4762), Yihui Zhai (4875226), Qian Shen (89639), Yunli Bi (10029374), Yanyan Qian (164913), Bingbing Wu (3608228), Huijun Wang (288634), Wenhao Zhou (2855447), Duan Ma (40293), Haitao Bai (11605282), Jianhua Mao (447450), Lizhi Chen (5146637), Xiaowen Wang (15759), Xiaojie Gao (10973574), Ruifeng Zhang (1587220), Jieqiu Zhuang (11605284), Aihua Zhang (174376), Xiaoyun Jiang (568078), Hong Xu (71477), Jia Rao (2266615)

مصطلحات موضوعية: Medicine, Genetics, Pharmacology, Computational Biology, Congenital anomalies of the kidneys and urinary tract (CAKUT), PAX2, Renal coloboma syndrome (RCS), Phenotypic cluster analysis

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Phenotypic_spectrum_and_genetics_of_PAX2-related_disorder_in_the_Chinese_cohort/16869832

الاتاحة: https://doi.org/10.6084/m9.figshare.16869832.v1

المؤلفون: Giuseppe Masnata, Valeria Manca, Laura Chia, Francesca Esu

المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 4, Iss 2, Pp e040225-e040225 (2015)

مصطلحات موضوعية: cakut (congenital anomalies of the kidneys and urinary tract), cap (continuous antibiotic prophylaxis), utis (urinary tract infections), lutd (lower urinary tract dysfunction), bbd (bowel bladder dysfunction), rals (robot-assisted laparoscopic surgery), Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.jpnim.com/index.php/jpnim/article/view/312; https://doaj.org/toc/2281-0692

URL الوصول: https://doaj.org/article/15a90b61a5de49f184d5153fc16c164a

المؤلفون: Rufeng Dai, Shrikant Mane, Marcello Scala, Shirlee Shril, Alina C. Hilger, Dervla M. Connaughton, Franziska Kause, Heidi L. Rehm, Bernd Hoppe, Gianluca Piatelli, Stefanie Märzheuser, Makiko Nakayama, Caroline M. Kolvenbach, Richard P. Lifton, Vincenzo Nigro, Luca Schierbaum, Thomas M. Kitzler, Friedhelm Hildebrandt, Eberhard Schmiedeke, Gabriel C. Dworschak, Sophia Schneider, Heiko Reutter, Annalaura Torella, Valeria Capra, Amelie T. van der Ven, Ronen Schneider, Nina Mann, Andrea Accogli

المساهمون: Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Marzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H., Hildebrandt, F.

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Heart Diseases, Tracheoesophageal fistula, Kidney, digestive system, Gastroenterology, Article, VATER/VACTERL association, 03 medical and health sciences, anorectal malformation (ARM), monogenic disease causation, Genes, X-Linked, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, HSP90 Heat-Shock Proteins, Exome, Esophageal Atresia, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Phenocopy, Hemizygote, Homeodomain Proteins, 0303 health sciences, business.industry, exome sequencing (WES), 030305 genetics & heredity, Receptors, Interleukin, medicine.disease, VACTERL association, Phenotype, digestive system diseases, Anorectal Malformations, 3. Good health, DNA-Binding Proteins, Cytoskeletal Proteins, congenital anomalies of the kidneys and urinary tract (CAKUT), HOXD13, Female, business, Tracheoesophageal Fistula, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72bd4d2d86317627cfbf9ccf0ecc14ba
https://europepmc.org/articles/PMC8595524/

المؤلفون: Kolvenbach C. M., van der Ven A. T., Kause F., Shril S., Scala M., Connaughton D. M., Mann N., Nakayama M., Dai R., Kitzler T. M., Schneider R., Schierbaum L., Schneider S., Accogli A., Torella A., Piatelli G., Nigro V., Capra V., Hoppe B., Marzheuser S., Schmiedeke E., Rehm H. L., Mane S., Lifton R. P., Dworschak G. C., Hilger A. C., Reutter H., Hildebrandt F.

المساهمون: Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Marzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H., Hildebrandt, F.

مصطلحات موضوعية: anorectal malformation (ARM), congenital anomalies of the kidneys and urinary tract (CAKUT), exome sequencing (WES), monogenic disease causation, VATER/VACTERL association

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000680036900001; volume:185; firstpage:3784; lastpage:3792; numberofpages:9; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11567/1119287; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111676219

الاتاحة: https://hdl.handle.net/11567/1119287
https://doi.org/10.1002/ajmg.a.62447

المؤلفون: Asinobi, Adanze O, Ademola, Adebowale D, Ogunkunle, Oluwatoyin O, Mott, Susan A

مصطلحات موضوعية: End-stage renal disease, Children, Chronic kidney disease, Glomerulonephritis, Congenital anomalies of the kidneys and urinary tract, Nephrotic syndrome, Nigeria

Relation: http://www.biomedcentral.com/1471-2369/15/25

الاتاحة: http://www.biomedcentral.com/1471-2369/15/25

المؤلفون: Vieira, M, Ferreira, A, Nolasco, F

المصدر: Portuguese Journal of Nephrology & Hypertension, Volume: 32, Issue: 4, Pages: 362-368, Published: DEC 2018
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Portuguese Journal of Nephrology & Hypertension v.32 n.4 2018
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação

مصطلحات موضوعية: dysplasia, congenital anomalies of the kidneys and urinary tract, HCC NEF, ciliopathies, vesicoureteral reflux, posterior urethral valves, Congenital Anomalies

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8474ef3275ce943bc0f839684612c2b2
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-01692018000400006&lng=en&tlng=en

المؤلفون: Asinobi, Adanze O., Ademola, Adebowale D., Ogunkunle, Oluwatoyin O., Mott, Susan A.

مصطلحات موضوعية: Chronic kidney disease, Congenital anomalies of the kidneys and urinary tract, End stage renal disease (ESRD), Glomerulonephritis, Nephrotic syndrome, 2727 Nephrology

Relation: orcid:0000-0003-0117-4718; D43 TW009140

الاتاحة: https://espace.library.uq.edu.au/view/UQ:324579

المؤلفون: Susan A. Mott, O. O. Ogunkunle, Adebowale D. Ademola, Adanze Onyenonachi Asinobi

المصدر: BMC Nephrology

مصطلحات موضوعية: Nephrology, Male, medicine.medical_specialty, Pediatrics, Congenital anomalies of the kidneys and urinary tract, Adolescent, medicine.medical_treatment, Population, Nephrotic syndrome, Nigeria, Health Services Accessibility, Peritoneal dialysis, End stage renal disease, Tertiary Care Centers, End-stage renal disease, Age Distribution, Glomerulonephritis, Interquartile range, Risk Factors, Internal medicine, Chronic kidney disease, medicine, Prevalence, Humans, Renal replacement therapy, Sex Distribution, education, Child, Survival rate, Children, education.field_of_study, business.industry, Tertiary Healthcare, Incidence (epidemiology), Survival Rate, Socioeconomic Factors, Child, Preschool, Kidney Failure, Chronic, Female, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2bd77d96af7d4ab1b216022e67ac28
https://pubmed.ncbi.nlm.nih.gov/24490759

المؤلفون: Vieira,Marina, Ferreira,Aníbal, Nolasco,Fernando

مصطلحات موضوعية: congenital anomalies of the kidneys and urinary tract, dysplasia, ciliopathies, posterior urethral valves, vesicoureteral reflux

وصف الملف: text/html

Relation: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692018000400006

الاتاحة: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692018000400006