المؤلفون: Salman MA; CTI Clinical Trial and Consulting Services, Cairo, Egypt. moh.salman.md@gmail.com., Elgebaly A; Smart Health Unit, University of East London, London, E16 2, UK., Soliman NA; Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Sep; Vol. 39 (9), pp. 2569-2578. Date of Electronic Publication: 2024 Jan 23.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney, Autosomal Recessive*/genetics , Polycystic Kidney, Autosomal Recessive*/epidemiology , Polycystic Kidney, Autosomal Recessive*/therapy , Polycystic Kidney, Autosomal Recessive*/diagnosis, Humans ; Middle East/epidemiology ; Africa, Northern/epidemiology ; Incidence ; Child ; Consanguinity ; Prevalence

المؤلفون: Qian C; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Yan J, Huang X, Wang Z, Lin F

المصدر: Medicine [Medicine (Baltimore)] 2024 Aug 02; Vol. 103 (31), pp. e39216.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney, Autosomal Recessive*/genetics , Receptors, Cell Surface*/genetics , Codon, Nonsense* , Pedigree*, Humans ; Female ; China ; Male ; Exome Sequencing ; Asian People/genetics ; RNA Splice Sites/genetics ; Mutation, Missense ; Adult ; East Asian People

المؤلفون: Tory K; MTA-SE Lendület Nephrogenetic Laboratory, Hungarian Academy of Sciences, Budapest, Hungary. tory.kalman@med.semmelweis-univ.hu.; Pediatric Center, MTA Center of Excellence, Semmelweis University, Budapest, Hungary. tory.kalman@med.semmelweis-univ.hu.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Jul; Vol. 39 (7), pp. 2049-2059. Date of Electronic Publication: 2023 Dec 05.

نوع المنشور: Journal Article; Historical Article; Review; Biography

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive* , Kidney Diseases*/genetics , Kidney Diseases*/history , Kidney Diseases*/diagnosis , Kidney Diseases*/congenital, Humans ; Male ; Genes, Dominant ; History, 19th Century ; History, 20th Century ; Phenotype

المؤلفون: Richards T; School of Biomedical Science and Physiology, Faculty of Science and Engineering, University of Wolverhampton, Wulfruna Street, Wolverhampton WV1 1LY, UK., Wilson P; Centre for Nephrology, UCL Medical School, Royal Free Campus, Rowland Hill, London NW3 2PF, UK., Goggolidou P; School of Biomedical Science and Physiology, Faculty of Science and Engineering, University of Wolverhampton, Wulfruna Street, Wolverhampton WV1 1LY, UK. Electronic address: p.goggolidou@wlv.ac.uk.

المصدر: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Oct; Vol. 1870 (7), pp. 167309. Date of Electronic Publication: 2024 Jun 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney, Autosomal Recessive*/genetics , Polycystic Kidney, Autosomal Recessive*/pathology , Polycystic Kidney, Autosomal Recessive*/metabolism , Wnt Signaling Pathway*/genetics , Receptors, Cell Surface*/genetics , Receptors, Cell Surface*/metabolism, Humans ; Male ; Female ; Exome Sequencing ; Child ; Severity of Illness Index ; High-Throughput Nucleotide Sequencing ; Adolescent ; Child, Preschool ; Kidney/metabolism ; Kidney/pathology

المؤلفون: Zhou W; Department of Pediatric Nephrology and Rheumatism and Immunology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.; Department of Pediatric Nephrology and Rheumatism and Immunology, Jinan Children's Hospital, Jinan, Shandong Province, China., Du Q; Department of Cardiovascular Medicine, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China. 459076541@qq.com., Liu Q; Department of Ultrasonography, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China., Liu X; Department of Ultrasonography, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China., Li L; Department of Cardiovascular Medicine, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China., Zhang H; Department of Pediatric Nephrology and Rheumatism and Immunology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China. 1036579519@qq.com.; Department of Pediatric Nephrology and Rheumatism and Immunology, Jinan Children's Hospital, Jinan, Shandong Province, China. 1036579519@qq.com.

المصدر: BMC nephrology [BMC Nephrol] 2024 Jun 25; Vol. 25 (1), pp. 209. Date of Electronic Publication: 2024 Jun 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney, Autosomal Recessive*/complications , Polycystic Kidney, Autosomal Recessive*/genetics , Polycystic Kidney, Autosomal Recessive*/diagnostic imaging, Humans ; Female ; Infant ; Isolated Noncompaction of the Ventricular Myocardium/complications ; Isolated Noncompaction of the Ventricular Myocardium/genetics ; Isolated Noncompaction of the Ventricular Myocardium/diagnostic imaging ; Ciliopathies/genetics ; Ciliopathies/complications

المؤلفون: Inoki Y; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Nishi K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Osaka K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Kaneda T; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Akiyama M; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Sato M; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Ogura M; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Ide K; Critical Care Medicine, National Center for Child Health and Development, Tokyo, Japan., Kamei K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan. kamei-k@ncchd.go.jp.

المصدر: CEN case reports [CEN Case Rep] 2024 Jun; Vol. 13 (3), pp. 181-187. Date of Electronic Publication: 2023 Oct 25.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2192-4449 (Electronic) Linking ISSN: 21924449 NLM ISO Abbreviation: CEN Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Nephrectomy*/methods , Peritoneal Dialysis*/adverse effects , Polycystic Kidney, Autosomal Recessive*/complications , Polycystic Kidney, Autosomal Recessive*/diagnosis, Humans ; Infant, Newborn ; Abnormalities, Multiple ; Anuria/etiology ; Lung/abnormalities ; Lung Diseases/etiology ; Lung Diseases/diagnosis ; Prognosis ; Renal Replacement Therapy/methods

SCR Disease Name: Lung agenesis

المؤلفون: Richter F; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Rutherford KD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Cooke AJ; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Meshkati M; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York., Eddy-Abrams V; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York., Greene D; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Kosowsky J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Park Y; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Aggarwal S; Division of Neonatology, Department of Pediatrics, Stony Brook Children's Hospital, New York, New York., Burke RJ; Department of Pediatrics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania., Chang W; Department of Neonatology, Pediatrics, East Carolina University, Greenville, North Carolina., Connors J; Division of Neonatology, The Children's Hospital at Montefiore, Bronx, New York., Giannone PJ; Division of Neonatology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky., Hays T; Division of Neonatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Khattar D; Division of Neonatology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky., Polak M; Department of Pediatrics, Division of Neonatology, West Virginia University School of Medicine, Morgantown, West Virginia., Senaldi L; Division of Newborn Medicine, Department of Pediatrics, Weill Cornell Medicine, New York-Presbyterian Hospital, New York, New York., Smith-Raska M; Division of Newborn Medicine, Department of Pediatrics, Weill Cornell Medicine, New York-Presbyterian Hospital, New York, New York., Sridhar S; Division of Neonatology, Department of Pediatrics, Stony Brook Children's Hospital, New York, New York., Steiner L; Department of Pediatrics, University of Rochester, Rochester, New York., Swanson JR; Division of Neonatology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia., Tauber KA; Department of Pediatrics, Albany Medical Center, Albany, New York., Barbosa M; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Guttmann KF; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York., Turro E; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: ernest.turro@mssm.edu.

المصدر: American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2024 Jun; Vol. 83 (6), pp. 829-833. Date of Electronic Publication: 2024 Jan 10.

نوع المنشور: Journal Article; Case Reports; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6838 (Electronic) Linking ISSN: 02726386 NLM ISO Abbreviation: Am J Kidney Dis Subsets: MEDLINE

مواضيع طبية MeSH: Introns*/genetics , Polycystic Kidney, Autosomal Recessive*/genetics , Polycystic Kidney, Autosomal Recessive*/diagnosis , Receptors, Cell Surface*/genetics, Humans ; Infant, Newborn ; Male ; Mutation, Missense

المؤلفون: Xiong X; College of Bioengineering, Jingchu University of Technology, Jingmen 448000, People's Republic of China., Li X; Key Laboratory of Vegetable Ecological Cultivation On Highland, Ministry of Agriculture and Rural Affairs, Hubei Key Laboratory of Vegetable Germplasm Enhancement and Genetic Improvement, Institute of Economic Crops, Hubei Academy of Agricultural Sciences, Wuhan 430063, People's Republic of China., Zhang S; Key Laboratory of Vegetable Ecological Cultivation On Highland, Ministry of Agriculture and Rural Affairs, Hubei Key Laboratory of Vegetable Germplasm Enhancement and Genetic Improvement, Institute of Economic Crops, Hubei Academy of Agricultural Sciences, Wuhan 430063, People's Republic of China., Hu Z; Key Laboratory of Vegetable Ecological Cultivation On Highland, Ministry of Agriculture and Rural Affairs, Hubei Key Laboratory of Vegetable Germplasm Enhancement and Genetic Improvement, Institute of Economic Crops, Hubei Academy of Agricultural Sciences, Wuhan 430063, People's Republic of China., Liu T; Zhejiang Institute of Landscape Plants and Flowers, Hangzhou 311251, People's Republic of China., Qiu Z; Key Laboratory of Vegetable Ecological Cultivation On Highland, Ministry of Agriculture and Rural Affairs, Hubei Key Laboratory of Vegetable Germplasm Enhancement and Genetic Improvement, Institute of Economic Crops, Hubei Academy of Agricultural Sciences, Wuhan 430063, People's Republic of China., Cao J; Laboratory of Cell and Molecular Biology, Institute of Vegetable Science, Zhejiang University, Hangzhou 310058, People's Republic of China., Huang L; Laboratory of Cell and Molecular Biology, Institute of Vegetable Science, Zhejiang University, Hangzhou 310058, People's Republic of China. Electronic address: lihuang@zju.edu.cn., Yan C; Key Laboratory of Vegetable Ecological Cultivation On Highland, Ministry of Agriculture and Rural Affairs, Hubei Key Laboratory of Vegetable Germplasm Enhancement and Genetic Improvement, Institute of Economic Crops, Hubei Academy of Agricultural Sciences, Wuhan 430063, People's Republic of China. Electronic address: yanch@hbaas.ac.cn.

المصدر: Gene [Gene] 2024 Oct 05; Vol. 924, pp. 148558. Date of Electronic Publication: 2024 May 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Brassica rapa*/genetics , Brassica rapa*/metabolism , Genes, Recessive* , Plant Infertility*/genetics , Plant Proteins*/genetics , Plant Proteins*/metabolism, Chromosome Mapping ; Genes, Plant ; Genetic Linkage ; Mutation

المؤلفون: Morali B; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Miranda V; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Raelson J; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada., Grimard G; Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada., Glavas P; Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada., Audibert F; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada., Dumont NA; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada., Barone J; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Bamshad M; Seattle Children's Hospital, Seattle, Washington, USA.; Department of Pediatrics and Genome Sciences, University of Washington, Seattle, Washington, USA., Lemyre E; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Campeau PM; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

المصدر: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 483-487. Date of Electronic Publication: 2024 Jun 10.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Arthrogryposis*/pathology , Alleles* , Genes, Recessive*, Humans ; Male ; Female ; Pedigree ; Molecular Motor Proteins/genetics ; Mutation/genetics ; Phenotype ; Genetic Predisposition to Disease ; Cytoskeletal Proteins

المؤلفون: Faridi R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Yousaf R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Inagaki S; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Olszewski R; Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Gu S; Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Morell RJ; Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Wilson E; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Xia Y; Department of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA., Qaiser TA; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Sector G-8/3, Ravi Road, Islamabad 44000, Pakistan., Rashid M; Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur 63100, Pakistan., Fenollar-Ferrer C; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Hoa M; Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Riazuddin S; Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore 54550, Pakistan., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

المصدر: Genes [Genes (Basel)] 2024 Jun 27; Vol. 15 (7). Date of Electronic Publication: 2024 Jun 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Pedigree* , Deafness*/genetics , Genes, Recessive* , MAP Kinase Kinase Kinase 1*/genetics , MAP Kinase Kinase Kinase 1*/metabolism, Animals ; Mice ; Humans ; Female ; Male ; Disease Models, Animal ; Hearing Loss/genetics ; Exome Sequencing ; Consanguinity

SCR Disease Name: Nonsyndromic Deafness