The Reliability of Ultrasound Markers in Identifying Fetuses With a Life-Limiting Skeletal Dysplasia.

Autor: Crane HM; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Schindewolf E; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Burrill N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Debari S; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Khalek N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Paidas Teefey C; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Soni S; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Coleman B; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Moldenhauer JS; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gebb J; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2024 Oct; Vol. 44 (11), pp. 1318-1326. Date of Electronic Publication: 2024 Jul 30.

Expanding Genetic Counselor Roles: A Model for Global Research Development.

Autor: Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rockart L; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Blaine Crowley T; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Asher S; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Back A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baldino SM; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bedoukian E; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Britt AD; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Burrill N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cacioppo C; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark DF; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark ME; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Conway L; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Dratch L; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Engelhardt NM; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ginn N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Gray C; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hartman T; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Hathaway ER; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hoffman-Andrews L; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Kasperski S; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keller KN; Center for Mitochondrial and Epigenomic Medicine, Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Long JM; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lulis L; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McGinn DE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Mueller R; Masters Genetic Counseling Program, Department of Medical Ethics and Health Policy, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Paul RA; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Pilchman L; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Powers J; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Raible SE; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Reichert S; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Arnold AG; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Center for Epilepsy and Neurodevelopmental Disorders (ENDD), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Schindewolf E; CHOP Precision Medicine Services, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sullivan KR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wang B; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wells M; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Wisniewski N; Obstetrics and Gynecology Reproductive Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wright R; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wood EM; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Woyciechowski S; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zelley K; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Valverde KD; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., McDonald-McGinn DM; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy.

Publikováno v: Genes [Genes (Basel)] 2024 Jul 01; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 01.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Autor: Burrill N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Khalek N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Oliver ER; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Linn R; Division of Anatomic Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Victoria T; Division of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA., Yates C; GeneDx, Gaithersburg, Maryland, USA., Moldenhauer JS; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2024 May; Vol. 44 (5), pp. 665-668. Date of Electronic Publication: 2024 Mar 30.

Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.

Autor: Wilson, Ella¹ (AUTHOR) ella.wilson@monashivfgroup.com, Leventer, Richard^1,2,3,4 (AUTHOR), Cunningham, Chloe^1,2,4,5 (AUTHOR), de Silva, Michelle G.^1,2,5 (AUTHOR), Hodgson, Jan¹ (AUTHOR), Uebergang, Eloise^2,3 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 9/5/2024, Vol. 19 Issue 1, p1-10. 10p.

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