المؤلفون: Lee J; Committee on Cancer Biology, The University of Chicago, Chicago, IL, 60637, USA.; Department of Pathology, The University of Chicago, Chicago, IL, 60637, USA., Yurkovetskiy LA; Department of Pathology, The University of Chicago, Chicago, IL, 60637, USA.; Committee on Microbiology, The University of Chicago, Chicago, IL, 60637, USA.; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, 01655, USA., Reiman D; Toyota Technological Institute at Chicago, Chicago, IL, 60637, USA., Frommer L; Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, 55101, Germany., Strong Z; Department of Pathology, The University of Chicago, Chicago, IL, 60637, USA., Chang A; Department of Pathology, The University of Chicago, Chicago, IL, 60637, USA., Kahaly GJ; Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, 55101, Germany., Khan AA; Department of Pathology, The University of Chicago, Chicago, IL, 60637, USA. aakhan@uchicago.edu.; Toyota Technological Institute at Chicago, Chicago, IL, 60637, USA. aakhan@uchicago.edu.; Department of Family Medicine, The University of Chicago, Chicago, IL, 60637, USA. aakhan@uchicago.edu.; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, 01655, USA. aakhan@uchicago.edu., Chervonsky AV; Department of Pathology, The University of Chicago, Chicago, IL, 60637, USA. achervon@bsd.uchicago.edu.; Committee on Microbiology, The University of Chicago, Chicago, IL, 60637, USA. achervon@bsd.uchicago.edu.; Committee on Immunology, The University of Chicago, Chicago, IL, 60637, USA. achervon@bsd.uchicago.edu.

المصدر: Nature communications [Nat Commun] 2024 Sep 03; Vol. 15 (1), pp. 7688. Date of Electronic Publication: 2024 Sep 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Protein Tyrosine Phosphatase, Non-Receptor Type 22*/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 22*/metabolism , Autoimmunity* , Receptors, Androgen*/metabolism , Receptors, Androgen*/genetics , T-Lymphocytes*/immunology , T-Lymphocytes*/metabolism , Lupus Erythematosus, Systemic*/immunology , Lupus Erythematosus, Systemic*/genetics , Androgens*/metabolism, Animals ; Male ; Female ; Mice ; Mice, Knockout ; Lymphocyte Activation ; Mice, Inbred NOD ; Mice, Inbred C57BL ; Disease Models, Animal ; Signal Transduction

المؤلفون: Wang Q; National Clinical Research Center for Hematological Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China; Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China, Zeng LJ; Guangdong Provincial People’s Hospital, Department of Hematology, Guangzhou, China, Wang M; National Clinical Research Center for Hematological Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China; Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China, Weng JY; Guangdong Provincial People’s Hospital, Department of Hematology, Guangzhou, China, Pan JL; National Clinical Research Center for Hematological Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China; Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China

المصدر: Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2024 Aug 28; Vol. 41 (3), pp. 194-199. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Galenos Yayinevi Country of Publication: Turkey NLM ID: 9606065 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5263 (Electronic) Linking ISSN: 13007777 NLM ISO Abbreviation: Turk J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 22*/genetics , Chromosomes, Human, Pair 9*/genetics , Leukemia, Promyelocytic, Acute*/genetics , Leukemia, Promyelocytic, Acute*/diagnosis , Oncogene Proteins, Fusion*/genetics , Translocation, Genetic*, Female ; Humans ; Middle Aged ; Mitogen-Activated Protein Kinase 1 ; Proto-Oncogene Proteins c-bcr/genetics

المؤلفون: Galluccio M; Laboratory of Biochemistry, Molecular Biotechnology, and Molecular Biology, Department of Biology, Ecology and Earth Sciences (DiBEST), University of Calabria, Via P. Bucci 4c, 87036 Arcavacata di Rende, Italy., Tripicchio M; Laboratory of Biochemistry, Molecular Biotechnology, and Molecular Biology, Department of Biology, Ecology and Earth Sciences (DiBEST), University of Calabria, Via P. Bucci 4c, 87036 Arcavacata di Rende, Italy., Pochini L; Laboratory of Biochemistry, Molecular Biotechnology, and Molecular Biology, Department of Biology, Ecology and Earth Sciences (DiBEST), University of Calabria, Via P. Bucci 4c, 87036 Arcavacata di Rende, Italy.; Institute of Biomembranes, Bioenergetics and Molecular Biotechnology (IBIOM), National Research Council (CNR), Via Amendola 122/O, 70126 Bari, Italy.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 10; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 10.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Solute Carrier Family 22 Member 5*/genetics , Solute Carrier Family 22 Member 5*/metabolism , Gene Expression Regulation*, Humans ; Organic Cation Transport Proteins/genetics ; Organic Cation Transport Proteins/metabolism ; Organic Cation Transport Proteins/chemistry ; Protein Conformation ; Symporters/genetics ; Symporters/metabolism ; Symporters/chemistry

المؤلفون: Yan L; Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. lihaibo-775@163.com., Zhang Y, Tian L, Liu Y, He Y, Han C, Zhuang D, Li H

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Sep 10; Vol. 41 (9), pp. 1059-1065.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 22*/genetics , Chromosome Deletion* , Chromosome Disorders*/genetics, Humans ; Female ; Male ; Child, Preschool ; Child ; Nerve Tissue Proteins/genetics ; Exome Sequencing ; Genetic Testing ; Intellectual Disability/genetics

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

المؤلفون: Lin Y; Department of Clinical Laboratory, Quanzhou Maternity and Children's Hospital, Quanzhou, Fujian, China., Zheng Z; Department of Clinical Laboratory, Quanzhou Maternity and Children's Hospital, Quanzhou, Fujian, China., Lin W; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, Quanzhou, Fujian, China., Peng W; Department of Clinical Laboratory, Quanzhou Maternity and Children's Hospital, Quanzhou, Fujian, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70003.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Carnitine*/blood , Carnitine*/deficiency , Solute Carrier Family 22 Member 5*/genetics , High-Throughput Nucleotide Sequencing*/methods , High-Throughput Nucleotide Sequencing*/standards , Hyperammonemia*/genetics , Hyperammonemia*/diagnosis , Genetic Testing*/methods , Genetic Testing*/standards, Humans ; Infant, Newborn ; Male ; Female ; Cardiomyopathies/genetics ; Cardiomyopathies/diagnosis ; Neonatal Screening/methods ; Neonatal Screening/standards ; Muscular Diseases/genetics ; Muscular Diseases/diagnosis ; Mutation

SCR Disease Name: Systemic carnitine deficiency

المؤلفون: Spineli-Silva S; Laboratory of Human Cytogenetics and Cytogenomics, Department of Translational Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil., Monlleó IL; Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.; Clinical Genetics Service, University Hospital, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil., Félix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil., Gil-da-Silva-Lopes VL; Laboratory of Human Cytogenetics and Cytogenomics, Department of Translational Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil., Vieira TP; Laboratory of Human Cytogenetics and Cytogenomics, Department of Translational Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.

المصدر: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Sep; Vol. 61 (9), pp. 1578-1585. Date of Electronic Publication: 2023 May 14.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: SAGE Publications in Association with American Cleft Palate-Craniofacial Association Country of Publication: United States NLM ID: 9102566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-1569 (Electronic) Linking ISSN: 10556656 NLM ISO Abbreviation: Cleft Palate Craniofac J Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Chromosomes, Human, Pair 22*/genetics , Eye Abnormalities*/genetics, Humans ; Female ; Male ; Goldenhar Syndrome/genetics ; Child, Preschool ; Chromosome Disorders/genetics ; Infant ; Child ; Abnormalities, Multiple/genetics ; Aneuploidy

SCR Disease Name: Schmid-Fraccaro syndrome

المؤلفون: Soomann M; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland. Electronic address: Maarja.Soomann@kispi.uzh.ch., Prader S; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland., Lorenzini T; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland., Soulard C; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada; Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, Montreal, Quebec, Canada., Sayasith K; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Haddad E; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada; Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, Montreal, Quebec, Canada; Research Center, Centre hospitalier universitaire (CHU) Sainte-Justine (CHU), Montreal, Quebec, Canada., Pachlopnik Schmid J; Division of Immunology and the Children's Research Center, University Children's, Hospital Zurich, University of Zurich, Zurich, Switzerland.

المصدر: The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2024 Aug; Vol. 12 (8), pp. 2199-2200.e1. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Case Reports; Letter; Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101597220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-2201 (Electronic) NLM ISO Abbreviation: J Allergy Clin Immunol Pract Subsets: MEDLINE

مواضيع طبية MeSH: Lymphopenia*/genetics , Lymphopenia*/diagnosis , Neonatal Screening* , Chromosomes, Human, Pair 22*/genetics , T-Lymphocytes*/immunology , DiGeorge Syndrome*/genetics , DiGeorge Syndrome*/diagnosis , DiGeorge Syndrome*/immunology , DiGeorge Syndrome*/complications, Humans ; Infant, Newborn ; Chromosome Duplication ; Male ; Female

المؤلفون: Zhou J; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China., Li G; Department of Preventive Medicine, School of Public Health, Fujian Medical University, Fuzhou, 350122, Fujian Province, China., Zeng Y; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China., Qiu X; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China., Zhao P; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China., Huang T; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China., Wang X; Department of Clinical Laboratory, Changdu Maternity and Child Hospital, Tibet Autonomous Region, Changdu, 854085, China., Luo J; Obstetrics and Gynecology Department, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China. luojinying2021@fjmu.edu.cn., Lin N; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China. linna1088@fjmu.edu.cn., Xu L; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China. xiliangpu@fjmu.edu.cn.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 03; Vol. 19 (1), pp. 248. Date of Electronic Publication: 2024 Jul 03.

نوع المنشور: Systematic Review; Journal Article; Meta-Analysis; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Carnitine*/deficiency , Solute Carrier Family 22 Member 5*/genetics , Hyperammonemia*/genetics , Hyperammonemia*/epidemiology , Hyperammonemia*/diagnosis, Humans ; China/epidemiology ; Infant, Newborn ; Cardiomyopathies/genetics ; Cardiomyopathies/epidemiology ; Muscular Diseases/genetics ; Muscular Diseases/epidemiology ; Mutation/genetics ; Neonatal Screening/methods ; East Asian People

SCR Disease Name: Systemic carnitine deficiency

المؤلفون: Cai H; Department of Endocrinology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian 362000, China. Electronic address: HuiyaoCaidft@163.com., Chen S; Department of Endocrinology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian 362000, China., Jiang Z; Department of Endocrinology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian 362000, China., Chen L; Department of Endocrinology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian 362000, China., Yang X; Department of Endocrinology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian 362000, China.

المصدر: Tissue & cell [Tissue Cell] 2024 Oct; Vol. 90, pp. 102502. Date of Electronic Publication: 2024 Jul 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Churchill Livingstone Country of Publication: Scotland NLM ID: 0214745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3072 (Electronic) Linking ISSN: 00408166 NLM ISO Abbreviation: Tissue Cell Subsets: MEDLINE

مواضيع طبية MeSH: Protein Tyrosine Phosphatase, Non-Receptor Type 22*/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 22*/metabolism , Graves Disease*/pathology , Graves Disease*/metabolism , Graves Disease*/immunology , T-Lymphocytes, Regulatory*/immunology , T-Lymphocytes, Regulatory*/metabolism , Th17 Cells*/immunology , Th17 Cells*/metabolism, Animals ; Mice ; Disease Models, Animal ; Signal Transduction

المؤلفون: Federico C; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy., Brancato D; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy., Bruno F; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy., Galvano D; Cytogenetic Laboratory, A.O.U. Policlinico Vittorio Emanuele, 95124 Catania, Italy., Caruso M; Cytogenetic Laboratory, A.O.U. Policlinico Vittorio Emanuele, 95124 Catania, Italy., Saccone S; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.

المصدر: Genes [Genes (Basel)] 2024 Jun 01; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 01.

نوع المنشور: Journal Article; Case Reports

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: Chromosomes, Human, Pair 21*/genetics , Chromosomes, Human, Pair 22*/genetics , Translocation, Genetic*/genetics, Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotyping ; Phenotype