MRI appearance of isolated fallopian tube torsion in an adolescent with a congenital müllerian duct anomaly and ispilateral renal agenesis.

Autor: Kopec M (AUTHOR), Rosenkrantz AB (AUTHOR), Rivera R (AUTHOR), Wells JL (AUTHOR), Berg RE (AUTHOR), Milla SS (AUTHOR)

Publikováno v: Clinical Radiology. Jan2010, Vol. 65 Issue 1, p89-93. 5p.

The influence of voxelotor on cerebral blood flow and oxygen extraction in pediatric sickle cell disease.

Autor: Brothers RO; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA., Turrentine KB; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA., Akbar M; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA., Triplett S; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA., Zhao H; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA., Urner TM; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA., Goldman-Yassen A; Department of Radiology and Imaging Sciences, Children's Healthcare of Atlanta and Emory University, Atlanta, GA., Jones RA; Department of Radiology, Children's Healthcare of Atlanta, Atlanta, GA., Knight-Scott J; Department of Radiology, Children's Healthcare of Atlanta, Atlanta, GA., Milla SS; Department of Pediatric Radiology, Children's Hospital Colorado, Aurora, CO.; Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO., Bai S; Pediatric Biostatistics Core, Emory University School of Medicine, Atlanta, GA., Tang A; Department of Pediatrics, Children's Healthcare of Atlanta and Emory University, Atlanta, GA.; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA., Brown RC; Department of Pediatrics, Children's Healthcare of Atlanta and Emory University, Atlanta, GA.; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA., Buckley EM; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, GA.; Department of Pediatrics, Emory University, Atlanta, GA.; Children's Research Scholar, Children's Healthcare of Atlanta, Atlanta, GA.

Publikováno v: Blood [Blood] 2024 May 23; Vol. 143 (21), pp. 2145-2151.

Art in medicine: in the classroom, exam room, and Reading room.

Autor: Guth T; Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USA., Medakovich M; Museum Education, Denver Art Museum, Denver, CO, USA., Milla SS; Department of Radiology, University of Colorado School of Medicine, Aurora, CO, USA.; Department of Radiology, Children's Hospital Colorado, Aurora, CO, USA.

Publikováno v: International review of psychiatry (Abingdon, England) [Int Rev Psychiatry] 2023 Nov-Dec; Vol. 35 (7-8), pp. 583-590. Date of Electronic Publication: 2023 Sep 28.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Autor: Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., Zhang J; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; State Key Laboratory of Bio-Organic and Natural Products Chemistry, Research Center of Chemical Kinomics, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Zeng X; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Robert SM; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Josiah SS; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Kiziltug E; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Denommé-Pichon AS; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Hao LT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Li H; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Louie RJ; Greenwood Genetic Center, Greenwood, SC., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Torti E; GeneDx, Gaithersburg, MD., Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., McWalter K; GeneDx, Gaithersburg, MD., Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom; Centre for Trials Research, Cardiff University, Cardiff, United Kingdom., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Bourgogne Franche-Comté, Besançon, France., Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Ilves P; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Radiology, Tartu University Hospital, Tartu, Estonia., Wentzensen IM; GeneDx, Gaithersburg, MD., Barr EE; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA., Guihard SH; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Groupe de Recherche Clinique, Déficience Intellectuelle et Autisme, Sorbonne University, Paris, France., Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Genomic Informatics Group, University of Southampton, Southampton, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Rio M; Developmental Brain Disorders laboratory, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Necker Enfants Malades Hospital, APHP, Paris, France., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University New York, NY., Wilson A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Quinquis D; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Bréhéret F; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Retterer K; GeneDx, Gaithersburg, MD., Lindenbaum P; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Scalais E; Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Rhodes L; GeneDx, Gaithersburg, MD., Stouffs K; Neurogenetics Research Group, Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan, Brussels, Belgium., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Milla SS; Department of Radiology and Imaging Sciences, School of Medicine, Emory University, Atlanta, GA., Jaykumar AB; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX., Cobb MH; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX., Panchagnula S; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Duy PQ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Vincent M; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Gilbert-Dussardier B; Service de Génétique, CHU Poitiers, Poitiers, France., Le Guillou X; Service de Génétique, CHU Poitiers, Poitiers, France., Audebert-Bellanger S; Génétique Médicale, CHRU Brest, Brest, France., Odent S; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Schmitt S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Boisseau P; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Toutain A; Unité de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, France; Unité Mixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France., Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Pasquier L; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Redon R; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Friez MJ; Greenwood Genetic Center, Greenwood, SC., Pérez-Peña H; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom., Akhtar Rizvi SR; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom; Centre for Advanced Research Computing, University College London, London, United Kingdom., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland., Schwartz CE; Greenwood Genetic Center, Greenwood, SC., Martínez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kahle KT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; Department of Cellular and Molecular Physiology, Yale School of Medicine, Yale University, New Haven, CT; NIH-Yale Centers for Mendelian Genomics, Yale School of Medicine, Yale University, New Haven, CT; Yale Stem Cell Center, Yale School of Medicine, Yale University, New Haven, CT. Electronic address: kahle.kristopher@mgh.harvard.edu., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1941-1951. Date of Electronic Publication: 2022 Jun 09.

Advances in Neuroimaging of the Fetus and Newborn.

Autor: Kanekar S; Penn State Health, Penn State College of Medicine, Mail Code H066, 500 University Drive, Hershey, PA 17033, USA. Electronic address: skanekar@pennstatehealth.psu.edu., Milla SS; University of Colorado School of Medicine, Children's Hospital Colorado, 7108 East Lowry Boulevard, #4100, Denver, CO 80230, USA. Electronic address: sarah.milla@childrenscolorado.org.

Publikováno v: Clinics in perinatology [Clin Perinatol] 2022 Sep; Vol. 49 (3), pp. xix-xx. Date of Electronic Publication: 2022 Aug 01.