Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?

Autor: Mackenzie WG, Dhawale AA, Demczko MM, Ditro C, Rogers KJ, Bober MB, Campbell JW, Grissom LE

Publikováno v: Journal of Pediatric Orthopaedics; 2013 Jan, Vol. 33 Issue 1, p91-98, 8p

Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.

Autor: Wongkittichote P; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Pantano C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bogush E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Alves CAP; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hong X; Division of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., He M; Division of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA., Demczko MM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA., Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA., Goldstein A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA. Electronic address: goldsteina@chop.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2023 Sep-Oct; Vol. 140 (1-2), pp. 107710. Date of Electronic Publication: 2023 Oct 20.

Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.

Autor: Demczko MM; Division of Diagnostic Referral Services, Nemours Children's Hospital, Wilmington, DE, USA.; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, USA., Liu TT; Division of Diagnostic Referral Services, Nemours Children's Hospital, Wilmington, DE, USA., Napoli JA; Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Jul 07; Vol. 35 (9), pp. 1201-1205. Date of Electronic Publication: 2022 Jul 07 (Print Publication: 2022).

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.

Autor: Aluri J; Division of Rheumatology/Immunology and., Bach A; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Kaviany S; Pediatric Hematology Oncology, Vanderbilt University Medical Center, Nashville, TN., Chiquetto Paracatu L; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Kitcharoensakkul M; Division of Rheumatology/Immunology and.; Division of Allergy and Pulmonary Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Walkiewicz MA; Centralized Sequencing Initiative, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Putnam CD; Department of Medicine, University of California School of Medicine, San Diego, La Jolla, CA.; San Diego Branch, Ludwig Institute for Cancer Research, La Jolla, CA., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics and., Saucier N; Division of Rheumatology/Immunology and., Rizzi EM; Division of Allergy and Immunology, Department of Medicine, Washington University School of Medicine, St. Louis, MO., Harmon MT; Division of Rheumatology/Immunology and., Keppel MP; Division of Rheumatology/Immunology and., Ritter M; Division of Rheumatology/Immunology and., Similuk M; Centralized Sequencing Initiative, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Kulm E; Clinical Research Directorate, Frederick National Laboratory for Cancer Research sponsored by the National Cancer Institute, Frederick, MD., Joyce M; Nemours Children's Specialty Care, Jacksonville, FL., de Jesus AA; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Goldbach-Mansky R; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Lee YS; Division of Anatomic and Molecular Pathology and., Cella M; Division of Immunology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO., Kendall PL; Division of Allergy and Immunology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.; Division of Immunology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO., Dinauer MC; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Bednarski JJ; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Bemrich-Stolz C; Division of Hematology and Oncology, Department of Pediatrics, University of Alabama School of Medicine, Birmingham, AL., Canna SW; Division of Pediatric Rheumatology and RK Mellon Institute, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, PA., Abraham SM; Division of Hematology and Oncology, Department of Pediatrics, University of New Mexico, Albuquerque, NM., Demczko MM; Division of Diagnostic Referral and., Powell J; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Nemours Alfred I. DuPont Hospital for Children, Wilmington, DE., Jones SM; Division of Allergy and Immunology, Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., Scurlock AM; Division of Allergy and Immunology, Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., De Ravin SS; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD; and., Bleesing JJ; Division of Bone Marrow Transplantation and Immunodeficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Connelly JA; Pediatric Hematology Oncology, Vanderbilt University Medical Center, Nashville, TN., Rao VK; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD; and., Schuettpelz LG; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Cooper MA; Division of Rheumatology/Immunology and.

Publikováno v: Blood [Blood] 2021 May 06; Vol. 137 (18), pp. 2450-2462.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Autor: Williams KB; Clinic for Special Children, Strasburg, PA, USA., Brigatti KW; Clinic for Special Children, Strasburg, PA, USA., Puffenberger EG; Clinic for Special Children, Strasburg, PA, USA., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA., Griffin LB; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA.; Medical Scientist Training Program, University of Michigan, Ann Arbor, MI, USA., Martinez ED; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA, USA., Wenger OK; New Leaf Center, Mount Eaton, OH, USA.; Department of Pediatrics, Akron Children's Hospital, Akron, OH, USA., Yoder MA; Northeast Ohio Medical University, Rootstown, OH, USA., Kandula VVR; Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Fox MD; Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA., Demczko MM; Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA., Poskitt L; Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA., Furuya KN; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.; Division of Pediatric Gastroenterology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.; Division of Pediatric Gastroenterology, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Reid JG; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA., Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA., Baras A; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA., Miles L; Department of Pathology and Laboratory Medicine, Nemours Children's Hospital, Orlando FL, USA., Radhakrishnan K; Department of Gastroenterology, Children's Hospital at Cleveland Clinic, Cleveland, OH USA.; Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA., Carson VJ; Clinic for Special Children, Strasburg, PA, USA., Antonellis A; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA.; Medical Scientist Training Program, University of Michigan, Ann Arbor, MI, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Jinks RN; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA, USA., Strauss KA; Clinic for Special Children, Strasburg, PA, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2019 Feb 15; Vol. 28 (4), pp. 525-538.