المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Shchelochkov OA; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Farmer CA; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA., Chlebowski C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA., Adedipe D; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA., Ferry S; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Manoli I; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Pass A; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., McCoy S; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Van Ryzin C; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Sloan J; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA., Venditti CP; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. venditti@mail.nih.gov.

المصدر: Molecular psychiatry [Mol Psychiatry] 2024 Apr; Vol. 29 (4), pp. 974-981. Date of Electronic Publication: 2024 Jan 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Propionic Acidemia*/genetics , Biomarkers*/blood , Intellectual Disability*/genetics , Mitochondria*/metabolism , Autism Spectrum Disorder*/metabolism , Autism Spectrum Disorder*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Autistic Disorder/metabolism ; Autistic Disorder/genetics ; Adult ; Methylmalonyl-CoA Decarboxylase/genetics ; Methylmalonyl-CoA Decarboxylase/metabolism ; Young Adult ; Carnitine/analogs & derivatives ; Carnitine/metabolism ; Carnitine/blood ; Citrates

المؤلفون: Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pass AR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Harrington EA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sloan JL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gagné J; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McCoy S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bell SL; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Hattenbach JD; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Leitner BP; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Duckworth CJ; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Fletcher LA; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Cassimatis TM; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Galarreta CI; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Thurm A; Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Snow J; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ferry S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mew NA; Children's National Health System, Washington, DC, USA., Shchelochkov OA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Chen KY; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Venditti CP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. venditti@mail.nih.gov.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2233.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Shchelochkov OA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Juneau P; NIH Library, Office of Research Services, National Institutes of Health, Bethesda, MD, USA.; Zimmerman Associates, Inc., Fairfax, VA, USA., Sloan JL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Ferry S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Myles J; Nutrition Department, Clinical Research Center, National Institutes of Health, Bethesda, MD, USA., Schoenfeld M; Nutrition Department, Clinical Research Center, National Institutes of Health, Bethesda, MD, USA., Pass A; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., McCoy S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Wenger O; New Leaf Center, Mount Eaton, OH, USA., Levin M; National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Zein W; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Huryn L; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Snow J; National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Chlebowski C; National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Thurm A; National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Kopp JB; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Chen KY; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Venditti CP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA. venditti@mail.nih.gov.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1534-1542. Date of Electronic Publication: 2021 May 18.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Liver Transplantation* , Propionic Acidemia*/diagnosis , Propionic Acidemia*/genetics, Biomarkers ; Humans ; Laboratories

المؤلفون: Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pass AR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Harrington EA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sloan JL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gagné J; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McCoy S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bell SL; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Hattenbach JD; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Leitner BP; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Duckworth CJ; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Fletcher LA; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Cassimatis TM; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Galarreta CI; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Thurm A; Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Snow J; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA., Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ferry S; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mew NA; Children's National Health System, Washington, DC, USA., Shchelochkov OA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Chen KY; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Venditti CP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. venditti@mail.nih.gov.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1522-1533. Date of Electronic Publication: 2021 Apr 05.

نوع المنشور: Clinical Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/diagnosis , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/therapy , Propionates*, Biomarkers ; Breath Tests ; Humans ; Liver ; Methylmalonic Acid

SCR Disease Name: Methylmalonic acidemia

المؤلفون: Beck TF; Department of Molecular and Human Genetics., Veenma D; Department of Pediatric Surgery.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Shchelochkov OA; Department of Pediatrics, The University of Iowa, Iowa City, IA 52242, USA., Yu Z; Department of Molecular and Human Genetics., Kim BJ; Department of Molecular and Human Genetics., Zaveri HP; Department of Molecular and Human Genetics., van Bever Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Choi S; Institute for Genetic Medicine and Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA., Douben H; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Bertin TK; Department of Molecular and Human Genetics., Patel PI; Institute for Genetic Medicine and Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA 90033, USA., Lee B; Department of Molecular and Human Genetics.; Howard Hughes Medical Institute, Houston, TX 77030, USA., Tibboel D; Department of Pediatric Surgery., de Klein A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GJ, The Netherlands., Stockton DW; Department of Pediatrics.; Department of Internal Medicine, Wayne State University, Detroit, MI 48201, USA., Justice MJ; Department of Molecular and Human Genetics., Scott DA; Department of Molecular and Human Genetics.; Department of Molecular Physiology and Biophysics Baylor College of Medicine, Houston, TX 77030, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2020 Apr 15; Vol. 29 (6), pp. 1054.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Shchelochkov OA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Manoli I; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sloan JL; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ferry S; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pass A; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Van Ryzin C; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Myles J; Nutrition Department, Clinical Research Center, National Institutes of Health, Bethesda, MD, USA., Schoenfeld M; Nutrition Department, Clinical Research Center, National Institutes of Health, Bethesda, MD, USA., McGuire P; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Rosing DR; National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Levin MD; National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Kopp JB; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Venditti CP; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. venditti@mail.nih.gov.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Dec; Vol. 21 (12), pp. 2830-2835. Date of Electronic Publication: 2019 Jun 28.

نوع المنشور: Clinical Trial; Journal Article; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Propionic Acidemia/*complications , Renal Insufficiency, Chronic/*epidemiology, Adolescent ; Adult ; Biomarkers ; Child ; Child, Preschool ; Creatinine/blood ; Cross-Sectional Studies ; Cystatin C/analysis ; Cystatin C/blood ; Female ; Glomerular Filtration Rate ; Humans ; Kidney ; Lipocalin-2/analysis ; Lipocalin-2/blood ; Male ; Middle Aged ; Prevalence ; Propionic Acidemia/epidemiology ; Uric Acid/analysis ; Uric Acid/blood

المؤلفون: Magoulas PL; Texas Children's Hospital, Houston, TX.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Shchelochkov OA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Bainbridge MN; Rady Children's Institute for Genomic Medicine, San Diego, CA., Ben-Shachar S; Genetics Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Yatsenko S; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine.; Department of Pathology, School of Medicine, and.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA., Potocki L; Texas Children's Hospital, Houston, TX.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Ophthalmology, Baylor College of Medicine, Houston, TX., Searby C; University of Iowa, Iowa City, IA., Marcogliese AN; Texas Children's Hospital, Houston, TX.; Department of Pathology and Immunology and.; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Elghetany MT; Texas Children's Hospital, Houston, TX.; Department of Pathology and Immunology and.; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; US Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Hernández PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; US Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Gadkari M; Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Einhaus D; Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Muzny DM; The Human Genome Sequencing Center and., Gibbs RA; The Human Genome Sequencing Center and., Bertuch AA; Texas Children's Hospital, Houston, TX.; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Scott DA; Texas Children's Hospital, Houston, TX.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX; and., Corvera S; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA., Franco LM; Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

المصدر: Blood [Blood] 2018 Aug 09; Vol. 132 (6), pp. 658-662. Date of Electronic Publication: 2018 May 21.

نوع المنشور: Case Reports; Letter; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Primary Myelofibrosis/*genetics , Vesicular Transport Proteins/*deficiency, Abnormalities, Multiple/genetics ; Bone Marrow Transplantation ; Child ; Consanguinity ; Fatal Outcome ; Female ; Gonadal Dysgenesis, 46,XY/genetics ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Pedigree ; Phenotype ; Primary Myelofibrosis/congenital ; Primary Myelofibrosis/therapy ; Syndrome ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/physiology

المؤلفون: Kho J; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Tian X; School of Biomedical Sciences, the Chinese University of Hong Kong, Shatin, NT, Hong Kong., Wong WT; School of Life Sciences, the Chinese University of Hong Kong, Hong Kong, Shatin, NT, Hong Kong., Bertin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Chen S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jin Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Shchelochkov OA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Reddy AK; Department of Medicine - Cardiovascular Sciences, Baylor College of Medicine, Houston, TX 77030, USA., Jiang H; Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center, Houston, TX 77030, USA., Abo-Zahrah R; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Ma S; Division of Nanomedicine and Molecular Intervention, Department of Medicine, Michigan State University, East Lansing, MI 48823, USA., Zhang P; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX 77030, USA., Bissig KD; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX 77030, USA., Kim JJ; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX 77030, USA., Devaraj S; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA., Rodney GG; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Erez A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Biological Regulation, Weizmann Institute of Science, Rehovot 76100, Israel., Bryan NS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lee BH; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: blee@bcm.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Aug 02; Vol. 103 (2), pp. 276-287.

نوع المنشور: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Argininosuccinate Lyase/*genetics , Argininosuccinic Aciduria/*genetics , Endothelial Cells/*pathology , Hypertension/*genetics, Adolescent ; Animals ; Blood Pressure/genetics ; Cells, Cultured ; Child ; Disease Models, Animal ; Endothelium, Vascular/pathology ; Female ; Humans ; Male ; Mice ; Mice, Transgenic ; Neovascularization, Pathologic/genetics ; Nitric Oxide/genetics ; Oxidative Stress/genetics ; Urea Cycle Disorders, Inborn/genetics

المؤلفون: Panzer K, Ekhaguere OA; The Children's Hospital of Philadelphia, Division of Neonatal and Perinatal Medicine, Philadelphia, USA Phone: +1 319 855-9093 E-mail: ekhaguereo@email.chop.edu., Darbro B, Cook J, Shchelochkov OA

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2017 Mar 01; Vol. 9 (1), pp. 70-73. Date of Electronic Publication: 2016 Oct 31.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive* , Uniparental Disomy*, Adrenal Hyperplasia, Congenital/*genetics , Chromosomes, Human, Pair 1/*genetics , Progesterone Reductase/*genetics, Adrenal Hyperplasia, Congenital/enzymology ; DNA Mutational Analysis ; Homozygote ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Mutation, Missense ; Progesterone Reductase/deficiency