Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP

Autor: SA Carter, AM Stephenson, Ss Papiha, A Jackson, C. F. Inglehearn, T J Keen, Ss Bhattacharya, U Atif, A C Bird, Janet C. Lindsey, R. Bashir, Marcelle Jay

Publikováno v: Genomics. 14(1)

Genetic studies have revealed that 25 to 30% of autosomal dominant retinitis pigmentosa (adRP) families have mutations in the rhodopsin gene, while the remainder do not. More recently linkage data and mutation detection have demonstrated two further

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2e8b09f422adabdd90706229c744d9
https://pubmed.ncbi.nlm.nih.gov/1427827

Patient, Parental, and Health Professional Perspectives on Growth in Children With CKD.

Autor: Wu JG; Sydney School of Public Health, University of Sydney, Sydney, Australia; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, Australia. Electronic address: justin.wu@sydney.edu.au., Guha C; Sydney School of Public Health, University of Sydney, Sydney, Australia; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, Australia., Hughes A; Sydney School of Public Health, University of Sydney, Sydney, Australia; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, Australia., Torrisi LG; Sydney School of Public Health, University of Sydney, Sydney, Australia; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, Australia., Craig JC; College of Medicine and Public Health, Flinders University, Adelaide, Australia., Sinha A; Department of Pediatrics, Division of Nephrology, All India Institute of Medical Sciences, New Delhi, India., Dart A; Department of Pediatrics and Child Health, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada., Eddy AA; Department of Pediatrics, University of British Columbia, and BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada., Bockenhauer D; Paediatric Nephrology, University Hospital Leuven, Leuven, Belgium; UCL Department of Renal Medicine and Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Yap HK; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Groothoff J; Department of Pediatric Nephrology, Emma Children's Hospital AMC Academic Medical Center, Amsterdam, the Netherlands., Alexander SI; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, Australia., Furth SL; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Samuel S; Section of Pediatric Nephrology, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Carter SA; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, Australia; Department of Nephrology and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia., Walker A; Department of Nephrology and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia., Kausman J; Department of Nephrology and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia., Jaure A; Sydney School of Public Health, University of Sydney, Sydney, Australia; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, Australia.

Publikováno v: American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2024 Aug 09. Date of Electronic Publication: 2024 Aug 09.

Maternal obesity and diabetes during pregnancy and early autism screening score at well-child visits in standard clinical practice.

Autor: Carter SA; Kaiser Permanente Southern California, USA., Lin JC; Kaiser Permanente Southern California, USA., Chow T; Kaiser Permanente Southern California, USA., Martinez MP; Kaiser Permanente Southern California, USA., Alves JM; University of Southern California, USA., Feldman KR; Kaiser Permanente Southern California, USA., Qiu C; Kaiser Permanente Southern California, USA., Page KA; University of Southern California, USA., McConnell R; University of Southern California, USA., Xiang AH; Kaiser Permanente Southern California, USA.

Publikováno v: Autism : the international journal of research and practice [Autism] 2024 Apr; Vol. 28 (4), pp. 975-984. Date of Electronic Publication: 2023 Aug 30.

Intraoperative Evaluation of Breast Tissues During Breast Cancer Operations Using the MasSpec Pen.

Autor: Garza KY; Department of Chemistry, The University of Texas at Austin., King ME; Department of Chemistry, The University of Texas at Austin.; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Nagi C; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas., DeHoog RJ; Department of Chemistry, The University of Texas at Austin.; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Zhang J; Department of Chemistry, The University of Texas at Austin., Sans M; Department of Chemistry, The University of Texas at Austin., Krieger A; Department of Chemistry, The University of Texas at Austin., Feider CL; Department of Chemistry, The University of Texas at Austin., Bensussan AV; Department of Chemistry, The University of Texas at Austin., Keating MF; Department of Chemistry, The University of Texas at Austin.; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Lin JQ; Department of Chemistry, The University of Texas at Austin., Sun MW; Department of Biomedical Data Science, Stanford University, Stanford, California., Tibshirani R; Department of Biomedical Data Science, Stanford University, Stanford, California., Pirko C; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Brahmbhatt KA; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Al-Fartosi AR; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Thompson AM; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Bonefas E; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Suliburk J; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Carter SA; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas., Eberlin LS; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas.

Publikováno v: JAMA network open [JAMA Netw Open] 2024 Mar 04; Vol. 7 (3), pp. e242684. Date of Electronic Publication: 2024 Mar 04.

Types of diabetes during pregnancy and risk of depression and anxiety in offspring from childhood to young adulthood.

Autor: Xiang AH; Department of Research & Evaluation, Kaiser Permanente Southern California, Pasadena, California, USA., Lin JC; Department of Research & Evaluation, Kaiser Permanente Southern California, Pasadena, California, USA., Chow T; Department of Research & Evaluation, Kaiser Permanente Southern California, Pasadena, California, USA., Martinez MP; Department of Research & Evaluation, Kaiser Permanente Southern California, Pasadena, California, USA., Negriff S; Department of Research & Evaluation, Kaiser Permanente Southern California, Pasadena, California, USA., Page KA; Division of Endocrinology, Diabetes and Obesity Research Institute, Los Angeles, California, USA., McConnell R; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Carter SA; Department of Research & Evaluation, Kaiser Permanente Southern California, Pasadena, California, USA.

Publikováno v: Diabetes, obesity & metabolism [Diabetes Obes Metab] 2024 Jan; Vol. 26 (1), pp. 224-232. Date of Electronic Publication: 2023 Oct 12.